Contents

Foreword v
Preface vii
How to use this book IX
Index of DVD clips xi
Module editors xiii
Contributors xv
Abbreviations xix

MODULE 1: Normal children and child

health 1
Jonathan Darling

1. Child health in a changing society 3

Alan Craft
2. Child development and developmental
problems 8
Delyth Howard
3. Psychological and emotional
development 18
Melanie Epstein
4. Nutrition, infant feeding and
weaning 24
Chenotte Wright, Alison Kelly, Unda Wo~son

MODULE 2: Toolkit for child health

and disease 35
Jonathan Darling

5. History-taking and physical

examination 37
Mark Bradbury, Alan Cade
xxiii
 6. Diagnosis and management 54
Ragbir Thethy
7. Communication skills 63
Richard Hain, John Hain
8. Evaluation of the newborn 71
Colin Morgan
9. Clinical genetics 86
Mark Davies, Angus Clarke
10. Pharmacology and therapeutics 101
Imti Choonara
11. Ethics and children's rights 108
Julie-Clare Becher, Neil McIntosh
12. Practical procedures and
investigations 116
Jonathan Darling
13. Evidence-based paediatrics and
audit 125
David Evans. Alison Pike

MODULE 3: Child public health 137

Mitch Blair, Mary Rudolf

14. Epidemiology 139

Rachel Crowther
15. Screening 159
Rachel Crowther
16. Immunization 170
Kathleen Skinner
17. Health promotion and disease
prevention 177
Rachel Crowther

MODULE 4: Community child health 191

Mary Rudolf, Mitch Blair

18. Childhood disability 193

Valerie Harpin. Sue Gentle
19. Adolescent health and health
problems 203
Aidan MacFarlane

xxiv
 20. Emotional and behavioural problems:
primary care aspects 210
Melanie Epstein
21. Child protection in the
community 222
Malcolm Levene. Amanda Thomas,
Neela Shabde

MODULE 5: Common problems in primary

care 233
Malcolm Levene

22. Growth: normal and abnonTIal 235

Mary Rudo~
23. Heart and lung disorders 262
Simon Frazer
24. Brain and movement disorders 283
Arnab Seal, Gillian Robinson
25. Abdominal disorders 304
Nigel Kennedy
26. Disorders of the urinary tract 324
Ed Peile
27. Skin disorders 342
Malcolm Levene

Index 351

xxv
 Rachel Crowther

Health promotion and 17

disease prevention
Learning outcomes 177
Health and health improvement 177
Disease prevention 179
HealU, promotion 181
Examples of health promotion and disease prevention in key
areas of child health 184
Universal and targeted approaches 188
Improving health in everyday practice 189

• • •
By the end of this chapter you should:
• Understand the terms health promotion, disease prevention and health protection, and
how these relate to different definitions of health
• Understand the importance of thinking 'upstream' about the determinants of health
- 'prevention is better than cure'
• Understand why improving the health of the population is everyone's concern and the
importance of partnership working to improve health
• Know about different approaches to improving health
• Appreciate the different levels at which health promotion and disease prevention can
operate
• Be able to suggest examples of health promotion and disease prevention at various
levels for different conditions
• Understand the difference between universal and targeted approaches to health -I
•
promotion and disease prevention and the 'population paradox'
Be aware of opportunities for health promotion in everyday practice, and the skills
:I
required to be a health-promoting doctor. :D
m
m
you undCfSl.lmJ by the following lerlm, which will be
Health and health explored ill Ihis ch"pler. I low e.1SY is it to come up wilh
succinct definitions?
improvement • IICdith
Definitiono; and meanings an' imponam in thc drca of • Health improvemem
hc,llth promolion dlld prt:\'cnti\'e hCdllh "Ul' bl-'GUISC • I h'ahh promolion
they hell) lO i(\(-rllify what we Me trying to achieve • Ile<llth prolcclion
Ikfore reading funher, think for a moment about whal • Di~CiIs(' prl'\:('I,linn 177
 Valerie Harpin Sue Gentle CHAPTER

Childhood disability 18
Learning outcomes 193
Concepts of disability and terminology 193
Cultural attitudes to disability 194
The epidemiology of disability 195
Developmental problems and disability in primary care 195
Agencies with a responsibility for childhood disability 199
Specific conditions causing disability 202

.- • •
By the end 01 this chapter you should:
Understand concepts of disability and be familiar with the terminology in use
Be aware of cultural attitudes to disability
Know the causes of disability in childhood
Be able to identify abnormal patterns of development
Know when further assessment and investigation is required
Understand the need for a multidisciplinary approach to management
Appreciate the impact that disability has on the family ~
Know about the role that various agencies have in providing services for the child with o
a disability. o
c::
r-
Concepts of disability and definitions of these terms based on the \'\'orld Ilcalth
m
Organiz..1lion (WIIO) Intnnatioll<ll C.LI~siti(,tlioll of
terminology Imp<lirnu:nt.., Di~<lhilities and Ilandicaps (IUIlII). I low
Refore CtJllsi{krillg clinical <l~peCl~ of disability we do these definitions compare with yours?
need to think about what the terminology uSf'd in The distinction between disability 'Illd 11IIndicap is
relation to disability means and why this might be particulMly important One of our aims when looking
important. Thert: arc three groul"> of rteople who after children h'ilh disabilities should be to minimiLc
nt"t'd to hf' tonsidered: our fellow profe~ionals with the handicap that results from that disdbility. It i" abo
whom we need 10 be able to communicate clearly, and important to cullsidcr how pt"ople wilh dis<lhility are
importantly the children or young pt:oplc dnd their perceived by wdety: some dis.1bled people say Ihat the
parents who n«d to understand the terms we use \'o'e handicap lies in socicty, not with thelll. \\o'c GIll hell) by
need to avoid terms 10 which stigma is attached. Sadly helping the child to overcome or compen~lll" for the
many words pn:viously used by profo;sionals lIlay disability and by advocating for changes in altitudes to
now be lenTIS of abuse in the playground, e.g. 'spastic', disability in socicty.
'cretin' or 'retarded'. Some par~tHs prefer to de<>eribe Iheir child .1S a
!'our COlllmon terms used in itssoci<ltion witll children child with '''pee;"l needs' rather than as either dis.1bled
with dlSilhility are disord<':r, impainnem, disability and or handicapped 111is terminology is also widely used by
handicap (ilox 18.1). In ·'able 18.1 you will see accepted professiOlMIs. not only in discussion~ with (;unillcs. 11m 193
 Aidan MacFarlane CHAPTER

Adolescent health and 19

health problems
Learning outcomes 203
What is adolescence? 203
Sex and sexually transmitted infections 203
Eating disorders 206
Substance abuse 208
Acne 209

.. •
By the end of this chapter you should:
Understand and be able to apply the concepts of 'confidentiality' and 'informed
consent' when dealing with adolescents
Understand why the needs of adolescents may be different from those of children!
adults
Know broadly what health problems are more specific to adolescents
Have the skills and sensitivity to deal with the emotional and information needs of
young people when they consult you
Have the skills to diagnose and treat specific disorders relating to adolescence.

What is adolescence? • Common medical conditions of adolescence

A definition of adolescence
Adolescence begins with the onset of physiologically
normal puberty, and end~ when an adult identity and
behaviour are <lccepted. This period of development
corrl:sponJ~ roughly to the period between the ages of
10 (from the begillililigofthe 10th year) and runs till
19 years (the end of the 19th year), which is consistent
with the World Ilealth Organization's definition of
adolescence.
Note that adolescence contains biological, psycho-
logical and social elements (FiR 19.1).
TIle key health problems of <ldolescencc include the
follo\\'ing, which are nOt all considered in detail in this
chapter, but elsewhere in these books:
• Growth and puberty (Chs 22 and 25)
• Nutrition, exercise and obesity (Chs 4 and 22)
• Sexual and reproductive health
(induding acne, common orthopaedic diseases,
functional/psychosomatic disorders, sleep
disorders. fatigue and chronic f<lliguc
syndrome) 'T1
• Chronic conditions/disabilities (Chs 29 and 11)
o
• Mental health problems (eh. 30)
• Eating di~orJers c:
• Substance use and nl isuse, indlld ing smoki ng
• Injuries and violence, including accidents, self-
:D
harm, abuse etc. (Chs 37 and 50).
Sex and sexually transmitted
infections
Teenagers and sex: some facts
• Average age of firsl sex is 16 (boys and girls).
• 30% of boys and 26% of girls have sex before 16. 203
 N~el Kennedy

25 Abdominal disorders
Learning outcomes 304
Introduction 304
Constipation 304
Soiling and encopresis 306
Recurrent abdominal pain 307
Acute abdominal pain 309
Vomiting in children 312
Acute diarrhoea 314
Blood in the stool 317
Scrotal swelling 318
Food allergy 319
Iron deficiency anaemia 319
Bruising 320
Neonatal jaundice 320
Lumps in the neck 322

By the end of this chapter you should:

Know how to diagnose the common and important conditions responsible for
symptoms and signs in young children
Know the causes of these conditions and details of the important conditions
Know the appropriate management at primary care level

-
"II
<
Know when to refer for further hospital investigation
Know how to take a full clinical history and examine the child to formulate a
management plan.
m
Introduction Constipation
SymplOms rel,lIed to the child's abdominal system Problem-orientated topic:
present commol1ly to doctors ill primM)' car~, ,"'lany
of lhese Ji~order~ are self-limiting and require no a constipated child
lrt'atmenl, but less frequently, serious disease may
Mat.thew is a 3-year-old who 15 brought
be presenl and urgel1t referral 10 hospital is required,
'nlis chapter di~nl~t:s ,Ill appro<lch 10 these common
to see you, his GP, because hie; mother 19
304 synllHOJIIS
 Valerie A. Harpin Susan M. Gentle CHAPTER

Neurodevelopmental 29
disability
Learning outcomes 27
Introduction 27
Learning disability 27
Developmental coordination disorder 33
The cerebral palsies 36
Communication and its disorders 40
Autistic spectrum disorders 44

LEARNING OUTCOMES
By the end of this chapter you should:
● Understand the causes of learning disability, attention deficit/hyperactivity disorder
(ADHD), cerebral palsy and communication disorders
● Understand the principles of management of learning disability, ADHD, cerebral palsy
and the different types of language impairment and communication disorder
● Understand the concept of the autistic spectrum and what it includes.

MODULE S IX
You should also take the opportunity to ensure that:
● You can make an initial assessment of a child with learning difficulties, ADHD, delayed
walking and cerebral palsy, and delayed language development
● You are aware of the different ways of assessing of language impairment and
communication disorder
● You are aware of appropriate management.

Introduction Learning disability

The prevalence of physical and multiple disabilities in
children is estimated to be approximately 10–20 per
1000. Chapter 18 describes the concepts and causes of
disability, and emphasizes that its management requires
a multidisciplinary approach, often focused on a Child
Development Centre. This chapter concentrates on the
causes, investigation and management of common
specific neurodisabilities of childhood. Although each
disability is considered separately, multiple disabilities
in the same child are common.
Problem-orientated topic:
the slow learning child ●●●●●
Thomas is a 3-year-old boy who is referred
because of suspected developmental delay.
His vision and hearing are normal. There
is no family history of learning disability,
fits or serious illness. His parents are not
Continued overleaf

27

V0229-F01906.indd 27 2/13/07 5:38:36 PM

 related. Thomas was born at term weighing
3.5 kg, following a normal pregnancy. He had
no neonatal problems. There is no relevant
29 past medical history and no evidence of fits.
He smiled at 8 weeks, sat by 8 months and
walked at 15 months. He has had no feeding
Neurodevelopmental disability
difficulties. His early social interaction was
normal. On examination he is not dysmorphic.
His head circumference is on the 70% centile.
He has no neurocutaneous lesions; his gait,
fundi and deep-tendon reflexes are normal,
and his plantar reflexes are down-going. Arm
and leg tone is normal and symmetrical. He
shows good eye contact, early turn-taking
and uses his index finger to point for a drink
or food. The only word he uses is ‘Mum’, with
some other early babble.
Q1. What is the definition of learning disability?
Q2. How do you make the diagnosis of learning
disability?
Q3. What are the pros and cons of investigating a
child with a learning disability?
Q4. What investigations would you perform, if any?
Q5. How would you manage this child and family?
Q1. What is the definition of learning
disability?
A child or young person has a learning disability if
he or she has ‘a greater difficulty in learning than the
majority of children of the same age’ (Box 29.1).
The International Statistical Classification of Diseases–
10th revision (ICD-10) defines it as ‘a condition of arrested
or incomplete development of the mind which is especially
characterized by impairment of skills manifested during
the developmental period contributing to the overall
level of intelligence, i.e. cognitive, motor and social
abilities’. This is not a helpful definition for parents.
For research and study it is sometimes necessary to have
a definition that can be measured. Average intelligence
quotient (IQ) is 100, with a standard deviation (SD) of
15. Learning disability may then be defined as > 2 SD
below the mean or the ICD-10 definitions:
• Mild IQ 50–69
• Moderate IQ 35–49
• Severe IQ 20–34
• Profound IQ < 20.
In practice, people in the UK often use the defini-
28 tions shown in Table 29.1.
V0229-F01906.indd 28
BOX 29.1 Definitions in learning disability
In the UK, the term ‘learning disability’ is currently
used in preference to ‘mental subnormality’ or
‘mental retardation’, whereas in the USA the
term ‘learning disability’ means ‘specific learning
disability’ and ‘mental retardation’ is still the term
used to denote ‘general learning difficulties’.
Table 29.1 UK definitions and incidence
Definition IQ Incidence Cause
(per 1000) identified*
Mild/moderate 50–70 5 68%
Severe < 50 3.8 96%
Severe 9.3
(developing
countries)
* This is higher, however, than in routine clinical practice (Whiting K
2001 Investigating the child with learning difficulty. Current Paediatrics
11:240–247).
We will use the abbreviations ‘SLD’ for severe learning
disability and ‘MLD’ for mild/moderate learning
disability.
Some psychometric tests
The following two tests are commonly used by paedia-
tricians. Both require training and special equipment:
• Griffiths. This has been standardized on 0–8-year-old
British children but relies on parental reporting; many
items are timed. It has recently been updated.
• Bayley II. This scale (age range 0–42 months) is
used to assess developmental age and has been
standardized on American children.
Q2. How do you make the diagnosis of
learning disability? (Box 29.2)
Mild/moderate learning disability
While children with SLD often have associated problems
such as cerebral palsy, those with MLD often have no
other problems. Many will be the tail-end of the normal
distribution; others will have learning difficulties as
a result of environmental factors (lack of early oppor-
tunities or iron deficiency) and be functioning below
their genetic potential; some will have an identifiable
remediable cause such as vision or hearing problems;
some will have an intrinsic problem such as neuro-
fibromatosis or a chromosome abnormality.
BOX 29.2 A point to remember
History and examination are the main ways in which
a diagnosis is made. Investigations are most useful
in confirming or clarifying a diagnosis.
2/13/07 5:38:36 PM
 All children with significant learning difficulties mon or easily recognized syndromes, such as Down’s,
should have at least some paediatric assessment to Edwards’ and Sturge–Weber; and others with a number
contribute to identification of special educational of abnormal features not immediately recognizable
needs. as a syndrome but in whom it is possible to make a
When seeing a child referred from school with MLD diagnosis.
enquire about:
• History
• Birth http://www.ncbi.nlm.nih.gov/Omim/
• Progress from birth OMIM (Online Mendelian Inheritance in Man)
• Family dysmorphology database
• Other concerns
• Hearing and vision Developmental regression
• Behaviour If there is progressive loss of skills (Ch. 28) it is
• Poor general health important to consider:
• Time off school, leading to under-achievement • Hydrocephalus
• Whether children are working at their best in • Poorly controlled epilepsy
school • Metabolic disorder/neurodegenerative disorder
• Epilepsy (absences, minor status). • Rett’s disease
Look for dysmorphism or other clues to aetiology. • Infection, particularly in an immunocompromised
host (e.g. AIDS)
• Vascular problem, e.g. repeated minor strokes from
Severe learning disability
moyamoya or sickle cell disease; malformations
It is important to ask or examine for:
causing vascular ‘steal’.
• Genetic abnormalities:
– Dysmorphism True regression can be hard to ascertain because
– Malformations development is taking place at the same time. All child-
• Metabolic defects: ren, and particularly those with a learning disability, will
– Failure to thrive sometimes learn something new and then appear to
– Hypotonia forget it for a while.
– Consanguinity
– Recurrent unexplained illness (especially

MODULE S IX
Reasons to ask for further assessment
anorexia and vomiting) • To obtain an objective assessment of abilities
– Loss of skills • To identify strengths and weaknesses that may help
– Coarse facies with management
– Ocular abnormalities • To assess progress
– Macro- or microcephaly • For the court, such as in cases of neglect
– Family history of unexplained illness or death • For research.
• Brain malformation:
– Abnormal skull
– Focal deficit Q3. What are the pros and cons of
– Loss of skills investigating a child with a learning
– Micro- or macrocephaly
disability?
– Seizures
– Visual abnormality. Pros
• Treatable cause, e.g. hypothyroidism
Syndromes • Genetic counselling may be useful
These are more likely in children with SLD but should • For prognosis
be considered in all children with learning difficulties. • The parents may be helped by knowing the
In children with SLD, about one-quarter have a chromo- cause.
somal disorder; 80–90% of these have Down’s syndrome.
The next most common disorder is fragile X syndrome Cons
(p. 32). • False positives and false negatives
There are now over 2000 syndromes and the number • Pain and complications of investigations
continues to increase. From a practical day-to-day (especially anaesthesia)
perspective they fall into two broad groups: the more com- • Financial cost. 29

V0229-F01906.indd 29 2/13/07 5:38:36 PM

 BOX 29.3 Pitfalls in screening for metabolic
disorders
Beware of thinking you can ‘screen for metabolic
29 disorders’ and exclude them. ‘Screens’ look for only
a small number of things. Be prepared to investigate
again if things change. See also Chapter 15.
Neurodevelopmental disability
Q4. What investigations would you
perform, if any? (Box 29.3)
Investigations should be performed on the basis of
clues from the history and examination. The following
investigations may be indicated, particularly in children
with SLD:
• Chromosome analysis
• Brain imaging
• Metabolic investigations.
Q5. How would you manage this child and
family?
The neurodevelopmental paediatrician’s role is:
• Establishing whether there is a learning disability
(usually done with a multidisciplinary team). In
younger children it is the health services that are
primarily involved in this. In older children it is
primarily school-based.
• Identifying the cause. This may be from the history
and examination or may include investigation.
• Referral to other professionals as appropriate. These
may include:
– Speech and language therapy (SLT),
occupational therapy (OT), physiotherapy
– Psychology
– Other medical specialties
– Education
– Social services.
• Looking for and managing associated difficulties. There
may be problems with hearing, vision, motor
function, behaviour or epilepsy. Some are specific,
e.g. hypothyroidism in Down’s syndrome.
• Counselling parents. The neurodevelopmental
paediatrician may be the initial person to do this,
although others may take up the role later.
• Liaison with education.
• Explanation to child and parents of the likely effects of
the disabilities.
• Responding to concerns.
In metabolic disorders some pharmacological treat-
ments may have an effect on progress. This is a very
specialized area and one that is constantly changing,
but it is a good reason for trying to make a specific
30 diagnosis.
V0229-F01906.indd 30
Down’s syndrome (Tables 29.2 and 29.3)
Incidence is approximately 1 in 1000 live births. The
risk of having a child with Down’s syndrome increases
with maternal age, so that for a mother in her twenties
the risk is less than 1 in 1000, but greater than 1 in 100
in mothers over 40. However, most babies are born to
mothers in their twenties and thirties.
Almost everyone can recognize a child or adult
with Down’s syndrome. One of the problems with a
well-recognized syndrome is that people can have
preconceived ideas about what a child with Down’s
syndrome is like. Children with Down’s syndrome can
be as different from each other as any other group of
children in the population. Some children are able to
follow a mainstream curriculum and achieve GCSE
passes. Others may never develop language. Some have
very limited exercise tolerance, while others achieve
sporting excellence.
Genetic types (see also Ch. 9)
Most are caused by non-disjunction in meiosis, resulting
in an additional chromosome 21 (47 XY with additional
chromosome 21). In 20–25% the extra chromosome is
paternal. When Down’s syndrome is caused by trisomy
21, the recurrence risk is about double that of a woman
of the same age without a previous history.
Three to four percent result from translocation of
material from chromosome 21 on to another chromo-
some. A parent may often have a balanced translocation
(one of their chromosome 21s is attached to another
chromosome), but this causes no problem because they
have a normal total amount of chromosome material.
However, this tagged-on chromosome may be present
in a gamete in addition to a normal chromosome
21, giving rise to extra chromosome material in the
offspring. There is a greatly increased risk of a couple
having a second affected child.
Mosaicism accounts for 2–6% and such individuals
are usually affected to a lesser degree.
Diagnosis
If the diagnosis is not made on antenatal screening,
it is usually made early in the neonatal period by
recognition of the typical features of Down’s syndrome.
It may be a midwife, a paediatrician or the parents who
first recognize that there is a problem with the baby.
There is strong evidence from parents to suggest that
disclosure should be made as soon as the diagnosis is
suspected, preferably with both parents present. The
diagnosis is confirmed by chromosome analysis.
Management
Down’s syndrome has possible effects on all body
systems. Management of children therefore needs
2/13/07 5:38:37 PM
 Table 29.2 Down’s syndrome
Feature Comments
Facial features
Prominent epicanthic folds
Flat nasal bridge
Small nose
Protrusion of tongue This is not a large tongue but poor tone
Brachycephaly
Wide hands, short fingers
Distal tri-radius, clinodactyly
Single palmar crease Simian crease may be present in normal individuals
Wide gap between first and second toes
Brushfield spots Spots on iris
Fine soft hair Can have alopecia
Dry, hyperkeratotic skin Helped by simple emulsifying cream and appropriate bath oil
Other skin problems Such as vitiligo, papular erythema, mottled skin (cutis marmorata)
Hypotonia Prominent in the neonatal period. Influences motor development. May result in joint
dislocation
Orthopaedic problems Atlanto-axial instability (see below)
Hip dysplasia/dislocation
Dislocation/displacement of other joints
Cardiac problems See below
Bowel problems Duodenal atresia presents neonatally
Also look out for constipation (Hirschsprung’s disease, hypothyroidism) and malabsorption
Infections More prone to infections, e.g. bacterial pneumonia, otitis media
Hypothyroidism Higher incidence of autoimmune hypothyroidism; important to screen for this
Leukaemia About a 10–20-fold increase. Children may cope badly with intensive treatment
Low fertility Females are fertile
Males often have undescended testes and hypogonadism
Behaviour difficulties Management should be appropriate to developmental age

Poor growth and weight problems
Presenile dementia
MODULE S IX
Frequently poor feeders in infancy. Later a tendency to become overweight and attention to
diet and activity levels is needed
N.B. Use growth charts for children with Down’s syndrome
Important for long-term support, as carers may be elderly with an affected young adult

Table 29.3 Average milestones for children with Down’s Atrioventricular (AV) canal defects (endocardial
syndrome cushion defects) occur very specifically in children
Milestone Mean age Range with Down’s syndrome (p. 215). Any newborn
Sitting 13 months 6–30 months found to have an AV canal defect should have
Standing 22 months 9–48 months chromosomal analysis.
Walking 30 months 12–60 months Patent ductus arteriosus (PDA), ventricular septal
defect (VSD) and atrial septal defect (ASD) are also
Single words 34 months 12–72 months
more common in children with Down’s syndrome.
40% of children with Down’s syndrome are able to learn to read
Damage to pulmonary vasculature with
irreversible pulmonary hypertension can occur
a multidisciplinary approach. Of the many other much earlier in children with Down’s syndrome
potential problems in a child with Down’s syndrome, than expected from the size of the shunt alone.
there are two that deserve particular mention: PDA, ASD, VSD and AV canal defects should be
• Congenital heart disease. This occurs in 40–50% considered for early surgical intervention.
of babies with Down’s syndrome. All newborn • Atlanto-axial instability. Routine cervical spine X-
babies should be evaluated, with observation ray used to be recommended but review of X-rays
(of feeding etc.), physical examination, of the same child taken minutes apart could give
electrocardiogram (ECG), chest X-ray (CXR) and rise to completely different advice. Spinal cord
echocardiogram. damage in Down’s syndrome is rare and usually 31

V0229-F01906.indd 31 2/13/07 5:38:37 PM

 insidious rather than acute. It is important not to
frighten parents and cause children to be wrapped
in cotton wool and prevented from joining in
appropriate activities; however, parents do need
29
relevant information to enable them to recognize
symptoms that should be reported. The three most
Neurodevelopmental disability
common symptoms are:
– Deterioration/change in gait or manipulation
skills
– Neck pain/stiffness
– Difficulties with sphincter control.
Children with any of these should be investigated
urgently.
Advice should be given to other regular carers
of children with Down’s syndrome and included
in medical advice for assessment of special
educational needs.
http://www.dsmig.org.uk
Guidelines on surveillance for people with Down’s
syndrome
Fragile X syndrome
This is probably the second most common known
syndromic cause of global learning disability (about
1 in 1360 males and 1 in 2000 females; a further 1 in
1000 females are asymptomatic carriers). The degree
varies from mild to severe in boys, and mild to moderate
in girls. The defect in fragile X is now known to be an
expansion in a specific DNA triplet repeat (CGG) on
the X chromosome.
Physical features include:
• Long face and slightly increased head
circumference
• Macrognathia
• Large protuberant ears
• Flattened nasal bridge
• Abnormal dermatoglyphics
• Macro-orchidism
• Infantile hypotonia
• Connective tissue dysplasia (joint laxity and soft
velvety skin)
• Aortic dilatation and mitral valve prolapse
• Recurrent otitis media
• Failure to thrive in infancy
• Tonic–clonic or partial epilepsy, temporal spikes
on electroencephalogram (EEG)
• MRI scan abnormalities (especially cerebellum).
Psychological features include:
• Variable intellectual impairment
• Language delay
• Social impairments, such as those seen in
autism
32 • Attention and concentration difficulties.
V0229-F01906.indd 32
Features are very variable and some are only evident
in adolescent or adult life. Clinical diagnosis in a
young child is difficult.
Families need careful genetic advice.
Other sex chromosome abnormalities in which
learning disability may occur are discussed in
Chapter 9.
Neurocutaneous syndromes
These may also cause learning disability (pp. 8–10).
Rett’s syndrome
This presents as a neurodegenerative disorder but
is probably a neurodevelopmental disorder. It is
sometimes classified with the pervasive development
disorders such as autism. Genetic advances in Rett’s
have been rapid in recent years. Milder cases and cases
in boys are being described. It constitutes about 10%
of SLD in girls.
Specific learning difficulties
The Education Code of Practice defines children as
having specific learning difficulties when they have
‘significantly’ more difficulty in a specific area than
most children of the same age that is not due to general
learning disabilities.
ICD and DSM (Diagnostic and Statistical Manual of
Mental Disorders) definitions depend on the child having
a normal IQ and no other problems, but there is no
reason why a child with generalized learning difficulties
cannot have specific difficulties in one particular area,
over and above their general level of difficulty.
Specific reading disorder
The term ‘dyslexia’ is used, but very loosely, for a wide
variety of difficulties at school.
Writing disorder
There is a lot of overlap between reading and writing
problems (dysgraphia).
Mathematics disorder (dyscalculia)
Incidence is probably similar to dyslexia and dysgraphia
but there are interesting differences:
• Dyscalculia is seen equally in boys and girls
(though recent work suggests that dyslexia may
also be equally represented).
2/13/07 5:38:37 PM
 • It is seen more in fragile X carriers, Turner’s
syndrome, phenylketonuria (PKU)
and ADHD.
• It is the most common learning difficulty in
epilepsy.
Developmental coordination
disorder (DCD)
Currently, this is the term used most commonly for
children with motor coordination problems. A number of
conditions can present with clumsiness other than DCD
and these need to be excluded because management is
different. Evidence of deterioration should be sought
at presentation and at reviews.
Differential diagnosis
• Muscular dystrophies
• Cerebral palsies
• Brain tumours
• Brain injury
• Hydrocephalus
• Ataxias, such as Friedreich’s ataxia (p. 14)
• Metabolic disorders
• Polyneuropathies
• Seizure disorder (p. 5)
• Vestibular disease
• Tremors and other involuntary movements.
History, examination and, if appropriate, investigation
should exclude these diagnoses.
Presentation
This is variable and depends on the age of the child,
though most patients do not present until school age.
There is a mixture of gross and fine motor problems.
Gross motor problems include:
• Awkward gait, ungainly running
• Falling a lot
• Bumping into things
• Poor balance
• Poor balancing on one leg, inability to hop
• Slow (or failure of) learning to ride a bike
• Difficulty learning to swim
• Poor at catching, throwing, batting a ball.
Fine motor problems include:
• Difficulty dressing (clothes on the wrong way
round or in the wrong order, difficulty with
buttons and zips)
• Feeding messy; difficulty using a knife and fork
• Poor at building with bricks, jigsaws, drawing
• Poor pencil control for writing
• Difficulty using scissors and rulers.
V0229-F01906.indd 33
Secondary problems include:
• Behaviour problems
• Poor self-esteem
• School failure.
When a child first presents at the clinic, a general
paediatric and neurological assessment is needed, parti-
cularly to exclude other causes. There are no specific signs
on neurological examination. Assessments specifically for
DCD are best carried out by an occupational therapist,
but the paediatrician should perform some initial
screening.
Management
The mainstay of treatment is occupational therapy and
physiotherapy. Management can be considered under
the following headings:
• Explanation to child, parent and teacher
• Specific advice to parents and teachers to help in
specific areas such as handwriting and dressing
• Improving self-esteem
• Specific therapy.
Problem-orientated topic:
disruptive behaviour (ADHD) ●●●●
Connor is 7 years old. His mother, a single
parent to Connor and his 4-year-old sister,
has always struggled with his behaviour.
Now things are going very badly at school.
MODULE S IX
Connor has barely started to acquire literacy
skills, although he seems a bright child. His
disruptive behaviour in class is now such a
problem that he is frequently sent home. His
class teacher has advised his mother to seek
a medical appointment. He was initially slow
to acquire language but other milestones
were normal. Last week he set fire to his
bedroom carpet.
Q1. What is attention deficit/hyperactivity disorder?
Q2. How would you assess Connor for this
condition?
Q3. How should you manage Connor and his
family?
Q4. What is Connor’s prognosis?
Q1. What is attention deficit/hyperactivity
disorder?
This is not a new disorder explained by environmental
pollutants or ‘made up’ to explain away naughty 33
2/13/07 5:38:37 PM
 children. Frederick Still described children in 1902 be over-estimated because boys show more obvious
with a ‘defect in moral control’, which almost certainly aggressive behaviour and girls have more inattention.
was ADHD.
29 Individuals with ADHD have: The underlying problem
• Inattention This appears to be an executive function deficit.
• Hyperactivity Executive functions include:
Neurodevelopmental disability

• Impulsivity: excessive in the context of age, sex and • Self-regulation

cognitive ability. • Sequencing of behaviour
• Flexibility in response
For a diagnosis to be made these symptoms should
• Response inhibition
be:
• Planning
• Present in more than one situation
• Organization.
• Present before the age of 6/7 years
• Impairing the child’s educational or social
Pathology
functioning.
Development of the frontal lobes is relatively late
and myelination is not complete until adolescence.
Inattention
Neuroimaging studies have been inconsistent but the
There is poor regulation of attention and this is
frontal cortex and its connections, as well as intracerebral
manifest particularly in difficult, imposed tasks that
connections via the corpus callosum, have abnormal
are not immediately rewarding. A child may attend to
activity. There may be differences in brain volume and
a video game or watch a TV programme with sustained
size of the cerebellum. Functional magnetic resonance
attention but be unable to concentrate in school.
imaging (MRI) shows diffuse and decreased activity
when individuals with ADHD undertake tasks requiring
Hyperactivity
concentration. There is abnormal handling of nor-
This is manifest differently at different ages:
adrenaline (norepinephrine) and dopamine in the
• The preschool child will rush around, jumping and
brain. This theory is supported by response to treatment
climbing noisily and being unable to settle in play.
with drugs affecting these neurotransmitters.
• The school-age child may be fidgety, squirming
and having difficulty remaining seated.
Aetiology
• The adolescent is restless, with foot-tapping and
• Genetics. Genetics is the major factor governing
twiddling, and is unable to sit quietly.
whether or not a child has ADHD. It has been
estimated that there is between 54% and 98%
Impulsivity
heritability.
Impulsivity means not thinking before acting; it often
• Environment. This also plays a part, particularly
results in getting into trouble for being cheeky or
maternal depression and social disadvantage. It
reckless. The child may have frequent accidents.
is likely that there is an interplay of genetics and
environment, with environmental factors maintaining
Secondary problems
or exacerbating ADHD rather than causing it.
Most children have secondary problems, including:
• Central nervous system damage. ADHD is also more
• Poor self-esteem
frequent following:
• Poor peer relationships
– Perinatal problems and prematurity
• Poor relationship with parents
– Antenatal insults, such as fetal alcohol
• Sleep/wake problems
syndrome or maternal smoking
• Dietary problems (will not settle to eat).
– Head injury, especially frontal lobe damage
– Encephalitis and meningitis
Epidemiology (Table 29.4)
– Hypoxic episodes, such as drowning and
ADHD is almost certainly still under-diagnosed in
strangling
parts of the UK, depending on where the child lives.
– Cerebrovascular accidents
All studies show a predominance of boys, but this may
– Chronic neurological illness, such as epilepsy,
Table 29.4 Epidemiology of ADHD
metabolic problems (e.g. PKU)
Population Incidence
– Medical treatments, such as cerebral irradiation,
anticonvulsants
UK (inner city) 1.5% of 7-year-olds
– Certain conditions such as Williams’ syndrome,
UK (general) 0.5–1% (hyperkinetic) hypothyroidism, tuberous sclerosis, XYY, XXY
3–7% ADHD
34 and fragile X syndrome.

V0229-F01906.indd 34 2/13/07 5:38:38 PM

 Q2. How would you assess Connor for this
condition?
Diagnosis is made by assessing information from a
variety of sources. This is time-consuming and more
than one clinic visit is usually needed.
History
• Current concerns, with specific examples, onset of
problems and situation
• Antenatal and perinatal history for possible risk
factors
• Early development: babies may be hyperactive with
sleep problems, feeding difficulties, colic, waking
early
• Medical problems for risk factors and differential
diagnosis
• Educational problems for difficulties in different
environments
• Relationships with parents and peers
• Family history
• Social situation, looking for other causes of
difficulties
• Possible comorbidities (see below).
Examination
• Physical and neurological examination for
associated problems (e.g. clumsiness), other
problems (e.g. hearing, vision) and other diagnoses
putting the child at risk (e.g. dysmorphism,
tuberous sclerosis)
• Mental state looking for poor self-esteem,
depression, anxiety
• Developmental assessment: behaviour
inappropriate for developmental age.
Observation in different settings is vital:
• During the initial assessment
• In school/playground/nursery/playgroup
• At home (parental report may be adequate).
Structured questionnaires, e.g. Conner’s Scales, play
an important role in the screening and diagnosis of
ADHD.
Psychometric testing is helpful in identifying those
children whose primary problem is a learning difficulty
and comorbid specific learning difficulties.
Differential diagnosis
• Physical illness
• Drugs (either prescribed or of abuse)
• Attachment difficulties
• Social issues (e.g. family break-up)
• Child abuse (especially if change in behaviour)
• Depression/anxiety
• Hearing problems
V0229-F01906.indd 35
• Unrealistic expectations on the part of parents or
teachers
• Poor parenting
• Bullying
• Bored bright child
• Learning difficulties
• Sleep problems
• Conduct disorder.
Investigations
These are rarely indicated but you may need to exclude
other causes of hyperactivity or inattention, such as
hearing loss, epilepsy, thyroid disorders, side-effects of
drugs:
• Test chromosomes if the child is unusually tall
(XYY) or has learning difficulties (fragile X) or
dysmorphism.
• Order an EEG if there is suspicion of subclinical
epilepsy or absence epilepsy (poor concentration
rarely is absence epilepsy).
Comorbidities
Comorbidity appears to be the rule rather than the
exception in ADHD. The common additional problems
are:
• Reduced cognitive ability (IQ on average is
5–15 points lower)
• Specific learning difficulties (particularly in
reading)
• Delayed language development and poor language
MODULE S IX
skills
• Developmental coordination difficulties (DCD)
• Oppositional/defiant disorder and conduct
disorder (ODD/CD)
• Mood disorders (anxiety, depression)
• Obsessive–compulsive disorders (OCD)
• Tourette’s syndrome
• Autistic spectrum disorders.
It is important to identify these to optimize treatment.
Q3. How should you manage Connor and
his family?
Information is an important aspect of management.
Making the diagnosis and making this known to all
involved may, in itself, help the child, parent and teachers
to cope with the ADHD:
• Oral and written information should be made
available.
• The child should be informed as well as the
parents.
• Teachers should be informed about the diagnosis
and, if necessary, about what it means. 35
2/13/07 5:38:38 PM
 Support groups
These can be very helpful to parents and child.
29
Educational measures
Simple suggestions can be very helpful such as:
Neurodevelopmental disability
• Having the child sit near the teacher
• Removing distractions where possible
• Clear, frequent and small rewards and discipline
• Working alone or in small groups
• Addressing any learning difficulties.
Behaviour modification
Positive reinforcement is very important. Children with
ADHD often have low self-esteem. Children respond
best to a well-structured, predictable environment where
expectations and rules are clear and consistent, and
consequences are set down ahead of time and delivered
immediately.
Medication
Medication is the single most effective approach in
severe ADHD.
Stimulant medications (methylphenidate, dexamphe-
tamine) affect the dopamine pathways in the brain but
the exact mechanism of action is unclear. They may
stimulate areas of the brain that are not functioning
properly. They do not affect the underlying pathology but
control some symptoms, so that behavioural management
can be more effective, school work can progress and
social relationships can develop better. They work best
in controlling hyperactivity and impulsivity but are less
effective in controlling inattention. Methylphenidate, the
most frequently used medication, is usually started at a
dose of 2.5–5 mg twice or three times a day, increasing
by 2.5–5 mg weekly until the desired effect is achieved.
A maximum of 20 mg per dose, or 45–60 mg per day,
should be used. If there is no effect after 3 weeks at
maximum dose, it should be stopped.
Sustained-release products are now available. These
have a lower incidence of side-effects and, as they are
long-acting, do not need to be given in school.
Between 60 and 80% of children are helped by
stimulant medication. Side-effects occur but are not
usually severe and include:
• Stomach ache and headache
• Decreased appetite
• Sleep disturbance
• Cardiovascular effects (blood pressure should
be checked before starting treatment and at
follow-up)
• Unhappiness/withdrawal
• Growth suppression (0.5–1.0 cm if treatment is
36 continued throughout puberty)
V0229-F01906.indd 36
• Rebound behaviour difficulties
• Tics, although it is not certain that these are a true
side-effect or constitute a coexistent tic disorder
• Marrow aplasia (very rare).
Atomoxetine is a non-stimulant selective noradre-
nergic reuptake inhibitor, which was licensed for use in
ADHD in the UK in 2004. Research suggests that it has
a significant effect in around 70% of individuals with
ADHD. It is used as a once- or twice-daily medication
(and therefore does not need to be given in school).
Side-effects may include somnolence, gastrointestinal
effects and rarely liver problems.
http://www.nice.org.uk//page.
aspx?o=TA098guidance
Diet
Diet has long been suggested as an important cause
of behaviour problems. Additives in the diet worsen
hyperactivity but do not cause ADHD. It is worth
checking whether the parents have noticed any foods
that cause deterioration in behaviour and removing
them from the diet.
Sleep
Many children and young people with ADHD have
poor sleep patterns and cannot usually stop themselves
waking others when they are awake. It is seldom safe
to leave such a child unattended for long and families
are often very sleep-deprived. This may greatly limit
their capacity to cope with their constantly active
offspring in the daytime! Although stimulants may
cause insomnia in some children, a teatime dose may
actually help a child to get off to sleep by calming a
racing mind. In other children, the use of melatonin
to regulate sleep patterns and quality is very useful.
4. What is Connor’s prognosis?
Some children continue to have difficulties in adult
life. Various groups have reported similar findings,
with approximately 30% within the normal range as
adults, 50–60% continuing to have problems with
concentration, impulsivity and social interaction, and
10–15% having significant psychiatric or antisocial
problems (depressed, suicidal, drug and alcohol abuse,
convictions for assault, armed robbery etc.).
The prognosis is best for those children with ‘pure’
ADHD and worse for those with severe symptoms, comor-
bidities, and poor family and educational support.
The cerebral palsies
Cerebral palsy (CP) is defined by the Oxford Register
of Early Childhood Impairments as:
2/13/07 5:38:38 PM
 BOX 29.4 Exercise: terminology in cerebral palsy
Have a go at defining these commonly used terms:
• Tone
• Spasticity
• Ataxia
• Athetosis
• Chorea
• Dystonia
A permanent impairment of voluntary movement or posture
presumed to be due to permanent damage to the immature
brain. Children with progressive disorders and those with
profound hypotonia and no other neurological signs (often
associated with severe intellectual delay) are excluded. It
is an umbrella term which includes a heterogeneous group
of conditions and can arise at any point during brain
development.
There are three main types:
• Spastic CP, which can be divided into diplegia,
hemiplegia and quadriplegia depending on areas
affected
• Ataxic CP
• Dyskinetic CP.
Terminology
See Boxes 29.4 and 29.5.
Classification
CP refers to a group of disorders. Classification is
based upon clinical descriptions of neurological signs.
It is commonplace to find mixed patterns with one
predominant aspect, e.g. hemiplegia with some involve-
ment of the good side, diplegia with asymmetry in the
upper limbs etc.:
• 27 Spastic diplegia. Recent magnetic resonance
55 studies show that the underlying lesion
63
in most cases of spastic diplegia is
periventricular leucomalacia (p. 367).
• 54 Spastic hemiplegia. Spastic hemiplegia
constitutes about 25% of all cases of CP.
The cause is usually an infarction within the
distribution of the middle cerebral artery (p. 367).
• 12 Total body involvement CP. In these cases the
64 brain pathology most commonly originates
in the prenatal period and may be due to
a variety of abnormalities such as primary
cerebral dysgenesis (lissencephaly/pachygyria),
early pregnancy infections (e.g. cytomegalovirus
(CMV), toxoplasmosis), or vascular malformations
and vascular accidents (e.g. hydranencephaly).
Spastic tetraplegia with bilateral cerebral
hemisphere infarction, sometimes with extensive
cyst formation (multicystic encephalomalacia) and
V0229-F01906.indd 37
BOX 29.5 Feedback on terminology
• Tone is the resistance of a muscle to passive
stretch (hypertonia — increased resistance,
hypotonia — reduced resistance)
• Spasticity is a velocity-dependent increase in
resistance to passive stretch. Spastic muscles
are not necessarily hypertonic. The key is the
velocity dependency; spasticity is an abnormal
response to rapid stretch. Usual associated
features are clonus, increased deep tendon
reflexes and extensor plantar responses
• Ataxia is an abnormality in the smooth approach
to an object, with wide-amplitude corrections
during the movement. In relation to gait, ataxic
means broad-based, poorly coordinated
• Athetosis is the characteristic of slow writhing
movement, usually seen in the distal part of the
limb during voluntary activity
• Chorea is rapid, high-amplitude, sudden
involuntary movement
• Dystonia is abnormal tone, either high or low. It
usually refers to abnormal sustained contractions
of agonists and antagonists resulting in an
unusual and abnormal posture, e.g. inversion of
foot, retraction of shoulders etc.
severe learning difficulties, may occur as a result
of brain injury in late third trimester. Prolonged
partial asphyxia in a term infant may be the cause
MODULE S IX
(p. 365). Acute profound asphyxia may develop in
the third trimester as a consequence of antepartum
haemorrhage, cord prolapse or uterine rupture
and may lead to damage in the basal ganglia and
thalami which may be confirmed on MR scanning.
The clinical correlate is the later development
of dyskinetic cerebral palsy, often with relatively
preserved cognitive function. The contribution of
perinatal asphyxia to the overall prevalence of CP
is debatable, but most agree an estimate of about
10% of all cases.
Dyskinetic CP may also arise due to bilirubin
encephalopathy in the neonatal period. These cases
were more common in the past, but prevention
and improved management of rhesus iso-
immunization have resulted in a dramatic fall in
the number of cases.
Ataxic CP (about 5% of CP) is mainly of prenatal
origin. There may be strong familial patterns, with
autosomal dominant, X-linked and autosomal
recessive modes of inheritance. Sporadic cases
are also seen. Children show ataxia, intention
tremor and dyskinesia, usually before 2 years of
age. Some may achieve independent walking by
4–6 years, although in these cases handwriting 37
2/13/07 5:38:38 PM
 remains problematic and, in more severe cases,
learning difficulties and seizures may complicate
the presentation. About 30% show normal or
borderline intellectual function. A magnetic
29
resonance study of ataxic CP showed that over 50%
were unclassifiable, 23% were genetic, and only 4%
Neurodevelopmental disability

(3 cases) may have had a perinatal cause.

Epidemiology Spasticity Fixed musculo- Fixed contracture

Prevalence of the cerebral palsies is about 1.7–3 cases/1000 Dynamic contracture tendinous and bony deformity
contracture
live births. There may have been a trend of increase in Treatment
the overall prevalence of CP in children born in the
Physiotherapy Surgical Surgical lengthening
1970s and 1980s. The main area of increase has been Orthotics lengthening correction of torsion,
in the most immature babies weighing under 1 kg. Botulinum toxin arthrodesis
The reasons for this increase are unclear but probably
relate to dramatic changes in survival of very immature Fig. 29.1 Spasticity: management
infants.
Another important aspect of epidemiology is sur- – Infection (e.g. meningitis)
vival. Most children with CP now survive to adult life, – Toxins (e.g. hyperbilirubinaemia)
even when disease is severe. This is having an impact on – Perinatal asphyxia
services for adults as well as children. • Postnatal:
– Infection
Problem-orientated topic: – Vascular accidents
– Head injury (accidental or non-accidental)
delay in walking ●●●●● – Encephalopathy
– Anoxic event.
Matthew is 18 months old and his mother is
concerned that he is not yet walking. He is a
bright, sociable child, who has several single
Q2. What are the possible diagnoses?
words. He was born at 27 weeks’ gestation One likely cause for this history is CP and this is
and had a difficult neonatal course. confirmed by abnormal physical signs. A familial delay
should also be considered, as well as rarer causes such
Q1. What questions would you ask to elucidate a as Duchenne muscular dystrophy (p. 17) in boys.
cause? It is important to remember that everything that
looks like CP may not be. Many infants with complex
Q2. What are the possible diagnoses?
congenital abnormalities (dysmorphic syndromes)
Q3. What are the principles of management? will display central motor impairment. These children
will require similar services.

Q3. What are the principles of

Q1. What questions would you ask to management?
elucidate a cause?
This depends upon the stage of the disorder (Fig. 29.1).
An underlying cause may not be apparent, but the Different approaches to treatment have, from time
following should be considered in history-taking: to time, attracted considerable interest and enthusiasm,
• Prenatal: as well as opposition. Only recently have attempts been
– Genetic made to study the relative merits of each in objective
– Infection (e.g. CMV, rubella, chorioamnionitis) ways. No single approach will suit all children with a
– Toxins (e.g. drugs) particular form of CP. In most centres in the UK staff
– Trauma follow an eclectic approach, deriving therapeutic ideas
– Nutritional (‘placental insufficiency’) from a variety of ‘methods’. No study has convincingly
• Perinatal: shown benefits of one approach over another.
– Prematurity (intraventricular haemorrhage/ Management involves regular assessment of the
periventricular haemorrhage/periventricular child (with parent/carer involvement) and close multi-
38 leucomalacia) disciplinary working.

V0229-F01906.indd 38 2/13/07 5:38:39 PM

 Key professionals
• The physiotherapist is responsible for development
of motor skills, and assessment for lower limb
orthoses and specialized supportive equipment,
such as standers and mobility aids. In the early
stages physiotherapy is aimed at interrupting the
circle of malachievement caused by abnormal
muscle tone. The child’s carers are shown methods
of handling and carrying out everyday tasks that
help this.
• The speech and language therapist plays these key
roles in CP:
– Most importantly, helping with feeding early in
life
– Helping early communication development
– Help with speech, which may be severely
impaired
– Management of dribbling
– Provision of communication aids.
• The occupational therapist will assess the need for
equipment to facilitate aspects of daily living, e.g.
bathing, toileting, static seating, feeding etc., and
fine motor skill function, perceptual skills and the
use of upper limb orthoses. Adaptations may also
be required in the home.
Specialized equipment
• Orthoses. The purpose of an orthosis is to restore
the normal distribution of forces acting through
the limb, thereby normalizing musculoskeletal
relationships and establishing a normal pattern
of motion and/or prevention of progressive
deformity. Hence children with a persistently
equinus foot may wear an ankle orthosis. Other
orthoses facilitate hand function. Some children
experience upper limb spasticity at night; a night
resting splint will hold the hand in a neutral
position in children, thus optimizing functional
use during the day.
• Special seating, standing and lying frames. These are
used to try to maintain good posture and to give
the child optimal positioning and support for
feeding and play.
• Supportive bracing. This may be needed in some
quadriplegic patients to prevent progression of
spinal deformity.
Specific drug treatment
Drugs are now being used more widely in CP:
• Botulinum toxin A (BT A). This works by chemically
denervating the muscle, allowing it to relax,
which may enable improved gait or easier care, for
example. Relaxation of the muscle may also enable
it to grow better by allowing stretching and thereby
V0229-F01906.indd 39
reducing contractures. The duration of effect is
usually 10–14 weeks, and measurable effects may
persist for up to 26 weeks.
• Baclofen. This analogue of gamma-aminobutyric
acid (GABA) impedes excitatory neurotransmission
at a spinal level. Oral baclofen is rapidly absorbed,
but is protein-bound and has poor penetration
into CSF because of poor lipid solubility. The half-
life is 3–4 hours, requiring regular dosing (3 times
daily). Response to oral baclofen is unpredictable;
a number of children will show a satisfactory
response, with reduction in muscle tone, but
others will develop unacceptable side-effects,
including somnolence, confusion, difficulties
with oral control, ataxia and increased frequency
of micturition. Recently, baclofen by continuous
infusion has been given by an intrathecal catheter
and pump delivery system to achieve higher
and continuous CSF baclofen levels. Baclofen is
perhaps most useful when there is generalized
increase in tone, which would require multiple
injections of botulinum toxin, e.g. in the child with
severe spastic tetraplegia.
Surgery
The orthopaedic surgeon has a major role to play in
management of CP. Orthopaedic surgery may be
indicated to improve function, to prevent deterioration,
to relieve pain and to facilitate care.
There are two surgical aspects to the management
MODULE S IX
of CP:
• Selective posterior rhizotomy. Two groups of patients
are most suitable: children who are of good
intelligence, well motivated and sufficiently strong
to achieve walking after spasticity is reduced, and
severely affected, non-ambulant patients in whom
painful spasm can be reduced.
• Single event multilevel surgery with associated gait
analysis. When fixed contracture of muscles
occurs, surgical release has been required to
correct the deformity. The traditional approach
has been to undertake soft tissue surgery in a
‘phased’ manner, dealing with one area at a time.
Recently it has become clear that this approach
of repeated operations, often on a yearly basis,
frequently does not improve long-term function.
As a result, techniques of thorough pre- and post-
operative assessment have been developed, in
particular gait analysis. The latter has led to a better
understanding of normal gait in children and
hence the abnormal gait of the child with
CP. Detailed surgical planning is based upon
objective rather than subjective information. Gait
analysis also allows proper objective review after
surgery. 39
2/13/07 5:38:39 PM
 Associated problems
Difficulty may arise from motor problems:
• Feeding difficulties. Feeding may be a considerable
problem, leading to inadequate quantity and quality
29
of intake. Children with spastic quadriplegia or
athetoid CP may have such severe feeding difficulties
Neurodevelopmental disability
that they fail to thrive. Recurrent aspiration during
feeding may lead to serious chest complications,
and children with severe CP commonly suffer
from significant gastro-oesophageal reflux (up
to 70% having oesophagitis). It is important to
address positioning and consistency of food, and
to consider the need for gastrostomy feeding.
A multidisciplinary approach is essential for
significant feeding problems and many places will
have a ‘feeding clinic’.
• Drooling. This is associated with speech and
feeding problems and can be a significant cosmetic
handicap, as well as being very messy and affecting
the skin around the mouth and neck. It is usually
due to a problem with swallowing saliva rather than
excessive production. Techniques used to help it are:
– Prompting and rewards for swallowing
– Positioning and exercises to improve oro-
motor function and sensory awareness,
now sometimes aided by intra-oral training
appliances
– Medication with anticholinergics to reduce
secretions
– Surgery to direct the ducts further towards the
back of the mouth
– Occasionally, removal of salivary glands
– Intraglandular botulinum toxin injections.
• Dislocated hips. These are an important
complication in CP and routine screening by X-ray
is needed. Good postural management will help to
prevent dislocation.
• Bowel and bladder problems. Incontinence may
result from learning difficulties, but may be a
problem of not being able to get to the toilet in
time or undress quickly enough. Constipation is
common, particularly in the immobile child and
those with restricted diets. It may also be associated
with abnormal gut sensitivity and motility. It is
important to try to prevent problems by
explaining to the parents and child about normal
bowel function and giving dietary advice. If
constipation occurs, the earlier it is treated, the
better.
• Osteopenia. The increased risk of bone fractures
in children with motor disabilities is linked to
reduced bone density. Measures such as weight-
bearing, particularly ambulation, good nutrition
(especially calcium, vitamin D and magnesium)
40 and sunlight will help.
V0229-F01906.indd 40
Other associated problems include:
• Vision problems. These are common (50%),
particularly myopia, cortical visual impairment
and squint.
• Hearing problems. These occur in 20–30%,
particularly sensorineural deafness. It is also
important to look for conductive problems.
• Learning disabilities. These are found in all types
of CP. Generalized learning difficulties tend to be
related to severity of physical problems; however,
not all children with severe motor problems have
learning difficulties and children with relatively
mild motor problems may have significant
learning difficulties.
• Specific learning difficulties. These are also seen more
frequently in CP and can easily be overlooked.
Assessment can be very difficult if there are severe
motor problems.
• Epilepsy. Around 21% of children with CP develop
epilepsy, which may be difficult to control.
• Psychological problems. These may be due to
physical difficulties, or children may have
problems directly related to the underlying
brain disorder.
• Educational issues. Most children will go to
mainstream school and need a minimum of help.
Some adaptations may be necessary, e.g. ramps,
handrails, lifts, special toilet facilities and adapted
working surfaces in the classroom.
Communication and its
disorders
Basic science
When thinking about speech and language development,
you must address the different skills necessary for
communication. These include the following.
Attention control
The child must have adequate listening skills and
attention.
Symbolic understanding
Words are symbols, so unless children can understand
the concept of symbols, they will not understand speech.
Comprehension
Does the child understand spoken language?
Expressive speech
This is the area of communication most easily identified
by both parents and professionals, and so tends to be
what people concentrate on in the early stages.
2/13/07 5:38:40 PM
 Phonology
The development of sounds proceeds largely in the
same order in all children, the easier sounds being
acquired earlier.
Oromotor skills
These depend on normal orofacial development and
functioning bulbar innervation.
Grammar/syntax
The rules of language (e.g. plurals, tenses, word order)
need to be acquired.
Semantics
Semantics is about the meaning of words. Children
can just learn words by rote and not be able to use them
appropriately in context.
Pragmatics
Pragmatics is the way in which language is used in the
social context. It includes turn-taking, keeping to the
subject, selection, context, verbal jokes and negotiation.
This is an area that children with developmental
language difficulties, and in particular autism, find hard
to learn.
Non-verbal communication
A lot of non-verbal communication occurs without
thought, but in children with autism it has to be
taught. It includes:
• Tone of voice, pauses etc.
• Facial expression, including eye contact
• Body posture
• Gesture and signing
• Physical contact.
These become more important in children with
speech problems and may be the predominant form of
communication in some, such as those with profound
deafness.
Problem-orientated topic:
delay in speaking
Alex is 21/2 years old. His parents are
concerned that he is still only using a few
single words. He has achieved his motor
milestones within the average range and has
no significant previous medical history.
Q1. How would you assess this child?
Q2. What other information would you seek?
V0229-F01906.indd 41
Q3. What investigations would you perform?
Q4. How would you manage this child?
Q1. How would you assess this child?
History
Ask in particular about:
• Pregnancy and birth history.
• Family history of language problems or learning
difficulties. There is certainly a strong genetic
component in language disorder and possibly in
the normal range of language acquisition.
• Early input. Carer/child interaction is clearly vital.
• Bilingualism. This was thought to be a problem
for children first learning language but there is no
evidence for this.
• General development. Language delay is often a
marker for general delay.
• Any worry about hearing? Has the hearing been
checked? Is there intermittent hearing loss or high-
frequency loss? Profoundly deaf children will not
learn spoken language without considerable help.
Some children with mild hearing losses are delayed
in their language development.
• Any feeding problems in early life?
• Any problems now with chewing or dribbling?
• Any difficulties with social relationships?
MODULE S IX
Observation
• Is there any clumsiness?
• Observe the child’s attention span.
• Watch children in a free play situation. Do they
make good eye contact with their parent and with
other people in the room? Do they turn to share
enjoyment of a toy with their parent? How does
the parent respond? Is there imaginative play?
• What spontaneous sounds, words or phrases do
they use?
• Is there good non-verbal communication?
Examination
• Do the ears look normal? Undertake a full ear,
nose and throat examination (Ch. 5).
• Are there local problems in the mouth?
Submucous cleft or problems with tongue
movements?
• Assess hearing in your clinic (Ch. 5).
• Associated disorder. Any evidence of a movement
disorder, e.g. CP?
• Try to engage the child in some one-to-one
activities. Some children may appear to have poor
auditory attention. Does this improve when you
work one-to-one with the child (as in a child 41
2/13/07 5:38:40 PM
 with an attention disorder) or is the child unable
to tolerate this one-to-one direction (raises the
possibility of autistic spectrum disorder)?
29 These factors may interplay.
Neurodevelopmental disability
BOX 29.6 Pitfalls in assessing verbal
competence
Beware of the echolalic child or the child using
chunks of ‘late echoing’, which will give the
impression of a verbally competent child. This
may indicate delayed verbal comprehension or

Q2. What other information would you semantic–pragmatic problems.

seek? Beware of children who initially appear to have
good expressive language using appropriate social
There are a number of aspects of language that need to
phrases but who demonstrate a lack of variety or
be addressed separately. range in their speech. These may be children with
general delay or with very little language stimulation.
Listening and attention
Can the child attend to language?
• Can the child tell you what he or she has been
Verbal comprehension doing?
What level of verbal comprehension has the child • Does he or she tend to copy what you say?
developed?
Phonology
• From the history, get particular examples and make
This is an area that parents often get worried about,
sure that they show verbal rather than non-verbal
but which has the best prognosis:
comprehension. Beware the child understanding
• Is it dysarthria (due to abnormal neurology,
from context alone. Can the child identify single
e.g. CP)?
objects (from objects or pictures)?
• Is it dysphonia (e.g. hoarseness due to disorder of
• Can the child understand prepositions (in/on/
the voice box)?
under/behind) and concepts (big/little)?
• Is it delay (the way a younger child would talk) or
• How many key words can the child follow? For
deviance?
example:
– ‘Put the big pencil in the box’ — 1 key word.
Semantics and pragmatics (Box 29.7)
There are only pencils and a box and it is
This is an area of difficulty that may only become
automatic to put things in boxes.
evident as the child develops more language. It is rare for
– ‘Put the cat under the chair’ — 3 key words.
children to have semantic or pragmatic disorders with
completely normal early language development:
Non-verbal strategies • Does the child have difficulties following
What non-verbal strategies does the child use to com-
instructions, particularly complicated ones?
municate, both for comprehension and expression?
• Does the child understand tenses?
• Pointing and facial expression plus non-speech
• Are conversational skills age-appropriate? Can the
sound to indicate needs?
child turn-take? Is the content of speech pertinent?
• Common gestures, such as pointing, arms up for
wanting to be lifted up and waving bye-bye? BOX 29.7 Pitfalls in parental descriptions
• More complex gestures as a means of self-expression?
Parents often underestimate their child’s expressive
language and overestimate their comprehension.
Verbal expression (Box 29.6)
• Pre-speech babbling or only open vowel sounds?
• Some symbolic noise or word approximations: e.g. Standardized assessments of language
‘hiya’ (for ‘here you are’) or ‘brrmm brrmm’ (for
Numerous standardized tools for language
car play)?
assessments exist and these are described on
• How many single words is the child using that
the MasterCourse website.
Mother understands (not necessarily other people)?
• Are there some learned phrases that are two- or
three-word combinations learned together, e.g. ‘all
Q3. What investigations would you
gone’, or has the child started flexible word joining,
perform?
e.g. ‘teddy gone’ or ‘daddy car’?
• Are longer structures used, e.g. ‘my teddy gone’ or • Hearing should be tested in all children.
‘my teddy’s called Joe and he’s going to bed now’? • Test chromosomes only if there are other
42 • Does the child ask questions? indications.

V0229-F01906.indd 42 2/13/07 5:38:40 PM

 • Order an EEG if there is loss of language or some
other reason to suspect epilepsy.
Any child with severe language impairment or com-
plex problems should be seen by a paediatrician.
Q4. How would you manage this child?
The role of the doctor in the management of language
difficulties is:
• To identify and address any possible causes (e.g.
hearing loss, submucous cleft)
• To identify and address associated difficulties (e.g.
epilepsy).
Management of language impairments lies predomi-
nantly with the speech and language therapist (SLT),
whose role is:
• To advise parents on how they can help the child
• To monitor young children or those with mild
delay
• To work with nursery or school, advising how to
help language development
• To work with groups of children who have similar
problems, to encourage language development
• To work with individual children, usually for short
intensive bursts of speech therapy
• To advise on and implement alternative
communication systems.
Details of these alternative communication
systems are given on the MasterCourse website.
Education
Fortunately, most language difficulties have resolved
by school age or soon after. Some children will go on
to have reading difficulties.
A small number of children need specialist educa-
tional input, which may be available locally at nursery
or primary school, but by secondary school age the
numbers are so small that the child may need to travel
some distance and occasionally even board at a special
school to obtain this level of specialist education.
English as a second language
Special problems may arise for children whose first
language is not English. These include:
• Late recognition. People assume that there are no
problems, or that any difficulties in English result
from it being the child’s second language.
• Assessment. Is there a problem in the first language
or is the problem only in English? Trying to assess
this means having an interpreter.
• Treatment. Should this be in the first language? Can
this be achieved?
V0229-F01906.indd 43
Children with profound and multiple learning
difficulties
The SLT will be part of a team caring for these children.
He or she may be involved initially with feeding diffi-
culties and can anticipate language problems.
Key elements for aiding communication in children
with profound and multiple difficulties are:
• Using all senses to give messages about the child’s
world: hearing, vision, touch, taste, smell
• Helping the child to learn to control the
environment at a basic level: making simple
choices, turn-taking
• Helping the child to develop relationships:
limiting numbers of professionals involved directly
with the child and working through other people
• Using augmentative communication systems.
Language disorders
Definitions
The terms ‘communication’ and ‘language’ are some-
times used interchangeably. Communication problems
encompass a wider range of disorders, including diffi-
culties in non-verbal communication and ability to
use language (as in autism). We will discuss language
problems other than autism here, although this is not
always a simple distinction:
• Delay implies that language is slow to develop; it is
progressing in a normal pattern but is like that of a
younger child.
MODULE S IX
• Disorder implies that language contains elements
that are not part of normal development.
• Impairment is the term that is currently preferred
and encompasses both delay and deviance. Specific
language impairment is used for children who
have isolated language impairment with non-
verbal learning skills at a higher level. However,
studies show that children with ‘specific’ language
impairment have a high incidence of other
neurodevelopmental disorders.
Prevalence
Studies on prevalence vary, depending on definition
and whether children with intellectual difficulties are
included. About 5–7% of children have significant
language difficulties without other learning difficulties.
Around 1% have severe persisting difficulties.
There is a wide variation in normal development of
language. This can make it hard to decide when there is
an abnormality, particularly when there is delay rather
than deviance and it affects verbal expression and
phonology. Many (though not all) of these children
will have corrected themselves by school age or soon
after. 43
2/13/07 5:38:40 PM
 Classification
There are problems with classification of communi-
cation disorders; children often overlap categories or
change from one to another. There is also difficulty
29
because of the wide spectrum of normal development.
A practical classification can be used to assist assess-
Neurodevelopmental disability
ment and investigation:
• Disorders affecting speech production:
– Neurological problems, e.g. CP
– Structural problems, e.g. cleft lip and palate
(‘tongue-tie’ rarely, if ever, causes speech
problems)
– Dysphonia, e.g. abnormalities of the vocal cords
– Dysfluency (stammering), a frequently normal
stage of development between 2 and 4 years
– Elective (or selective) mutism
• Specific language impairments:
– Expressive language delay
– Articulatory dyspraxia, possibly associated with
feeding difficulties
– Difficulties in producing sounds accurately, in
comprehension or in finding a word
– Semantic–pragmatic difficulties. These children
may have had normal early development of
language but often have had delay or deviance
that resolved. Difficulties become apparent
later with inability to maintain a conversation,
‘getting the wrong end of the stick’, going
off at a tangent, misunderstanding rules of
conversation, or difficulty with puns and
jokes. There are often problems with social
interaction, which may overlap with the autistic
spectrum.
• Children who stop talking:
– Usually associated with loss of other skills, e.g.
neurodegenerative disorders
• Impaired language and social interaction:
– These are considered in the section on autistic
spectrum disorders.
http://www.afasic.org.uk
The Afasic website has information sheets on different
types of disorder
Aetiology
Most children with language difficulties not linked
with other major disabilities have no identifiable cause
for their problems.
Children with language disorders are known to
have an increased family history of language disorders
and twin studies suggest strong heritability.
Associated problems
• Epilepsy has a higher incidence in children with
44 language disorders. This supports the idea that
V0229-F01906.indd 44
language disorders are due to problems with brain
development.
• Left-handedness (especially in girls) is often noted but
not always confirmed. The significance is unclear; it
may sometimes be a pathological left-handedness.
• Clumsiness is found in 90% of children with severe
language disorder. Studies and clinical observation
confirm this link.
• Educational difficulties are complicated and depend
on the type of language impairment.
Autistic spectrum disorders
Problem-orientated topic:
the isolated child ●●●●●
Robbie is 3 years of age and has been
referred by his GP because he has recently
started nursery school and his teacher has
expressed concern that he may be autistic.
Robbie is his mother’s third child and he
has always acted differently to the other
two. Since the age of 6 months he stopped
making eye contact and is now a very solitary
child, preferring his own company to that of
his family. He spends hours spinning a toy
top and becomes inconsolable if interrupted.
His speech development is immature and he
tends to echo phrases made by his brothers.
Q1. What are the three core impairments seen in
autistic spectrum disorders?
Q2. How would you assess this child?
Q3. What alternative conditions do you need to
consider?
Q4. What investigations should be considered?
Q5. What are the advantages/disadvantages of
finding a diagnostic label for Robbie and his
family?
Q6. What are your management options?
Q7. What is the prognosis for this condition?
Q1. What are the three core
impairments seen in autistic spectrum
disorders?
Autism is a specific type of communication disorder,
which has some overlap with semantic–pragmatic
disorders of language (p. 41) and also with other types
of neurodevelopmental disorder. The present concept
2/13/07 5:38:41 PM
 is of an ‘autistic spectrum’, in which the three core situation and many parents have already suspected
features are: the diagnosis. In some children it is less easy, and it
• Impairment of social interaction is important to have reliable methods of assessment
• Impairment of communication so that the diagnosis can be made or excluded with
• Rigidity of thought. confidence and backed up with evidence.
It can be useful within this spectrum to define the
History
type (classic autism, high-functioning autism, Asperger’s
Diagnosis depends greatly on history, so it is impor-
syndrome) while accepting that some children do not
tant to have a framework that will cover the triad of
fit any one of these labels but still show significant
impairments. In addition a standard medical, develop-
features within the spectrum.
mental and family history may indicate a different
diagnosis, associated problems or a possible cause for
Impaired social interaction
the autism.
Eye contact may be present but is abnormal in its
There are formal scored interviews for the autistic
nature (fixed and staring, held too long). However,
spectrum, which have diagnostic cutoff points and
there may be good reasons for a child to have poor eye
may also give an indication of where in the spectrum
contact in the clinic, such as shyness, embarrassment,
the child lies.
wilfulness.
Lack of cuddliness is another popular concept, but
Examination
autistic children may be willing to be cuddled and even
This may identify possible causes, including:
give cuddles back, especially with their parents, though
• Dysmorphism
the parents may describe it as ‘on the child’s terms’ or
• Neurological abnormality, including head size
‘too intense’.
• Skin markers (should include examination
Key indicators of impaired social interaction are:
under Wood’s light for depigmented patches,
• Lack of sharing and directing attention
p. 9).
• Poor recognition of others’ affect
• Poor understanding of social situations. Informal observation in the clinic setting will often
give clues as to diagnosis, but children may act fairly
Impaired communication normally in this structured one-to-one situation, so
In classic autism there will be delayed development it is helpful to observe them in different settings and
of communication, though many autistic children over time.

MODULE S IX
develop some language. About 33% of children with
autism develop some early words and then lose them. Assessing where on the spectrum a child lies
It is often apparent that they had social interactional The formal scored tools will help with this. Beware of
problems from the outset and/or never used their words being too precise early on because this may change
really communicatively. Only 7–8% of autistic children as time goes by and as you obtain more information
have a setback in language development following about the child.
completely normal development in the first couple of
years with acquisition of two-word phrases. Children Assessing the child’s strengths and
with Asperger’s syndrome may have normal language weaknesses
development, but content and use of language may be Each aspect of the child’s difficulties is assessed:
unusual. • Its nature
• Its degree
Rigidity/stereotyped thought and behaviour • Whether it is primary or secondary
These include the hand flapping and turning in circles • Whether it is changing over time.
seen in classic autism and the intense narrow interests Other aspects can be assessed, such as:
of children with Asperger’s syndrome. Some children • Rigidity/routines
have no imaginative play; others will have restricted • Motor abilities
imaginative play, such as going through the same • ‘Dangers’ of special interests
routine, probably copied from a video. • Motivation/reliability
• Obsessional–compulsive behaviours
• Insight
Q2. How would you assess this child?
• Depression/anxiety
With practice it becomes relatively easy to identify most • Temperament
children within the spectrum in the informal clinic • Support systems. 45

V0229-F01906.indd 45 2/13/07 5:38:41 PM

 Children are presenting younger with possible autistic
spectrum disorder and this may present difficulties
around stability of the diagnostic label over time.
29
Q3. What alternative conditions do you
Neurodevelopmental disability
need to consider?
Social impairment may be secondary to other disorders:
• Learning difficulties, leading to social immaturity
• Dyspraxia, leading to invasion of other people’s
social space
• Psychopathy (p. 52)
• Shyness, leading to social awkwardness
• Conduct disorder, bullying, abuse, depression,
which may all lead to abnormal social
relationships
• Semantic–pragmatic disorders (p. 41), leading
to abnormalities in social relationships; there is
overlap between these and autism
• Secondary social impairment, which may occur as
a result of ADHD (p. 33), depression, bullying or
abuse
• Rett’s syndrome (p. 22), but the relationship
to autism is debatable; certainly, these children
develop features of severe autism but also tend to
lose them as the condition progresses.
Comorbidity
Children with an autistic spectrum disorder have a
greater incidence of other developmental and psychia-
tric disorders and these should be sought:
• Learning difficulty is the most common associated
problem in classic autism (70–75%). Also,
children with learning disorders may show features
of autism and it is important to ascertain whether
this is sufficient to give an additional diagnosis of
autism.
• ADHD.
• Depression.
• Affective disorder.
• Anxiety disorder.
Q4. What investigations should be
considered?
Children with autism find investigations very difficult
to cope with; therefore consider the reasons for
ordering them. These reasons are:
• To identify a treatable cause
• To identify genetic implications
• Parental ‘need to know’
• Research.
Investigations are most likely to be positive in child-
46 ren with a severe cognitive impairment.
V0229-F01906.indd 46
Cytogenetics
Around 3% of children with autism have an abnormal
karyotype. This figure is higher in children with
dysmorphisms, severe learning difficulties and identi-
fiable syndromes.
Imaging
Most common abnormalities are of the cerebellum but
the significance of this is unknown. Cortical migration
anomalies may sometimes be seen, but they are non-
specific and will not help in diagnosis of autism or
discovery of the cause. Features of tuberous sclerosis
and neurofibromatosis may be recognized. Routine
imaging is not recommended.
EEG
Between 21 and 43% of children with autism have an
abnormal EEG. The longer the EEG, the more likely it
is to reveal abnormalities, but these do not necessarily
have implications for clinical care.
Q5. What are the advantages/
disadvantages of finding a diagnostic
label for Robbie and his family?
Advantages
• Changes attitudes towards the child positively
(more understanding and appropriate responses)
• Mobilizes resources
• Indicates type of management for specific
problems
• Gives an explanation to the child and parents
• Gives access to support networks.
Disadvantages
• Changes attitudes towards the child negatively
(inappropriate lowering of expectations,
assumptions about what diagnosis means)
• A label for life
• The label may need to change with passage of time.
Q6. What are your management options?
These include:
• Management of the child:
– Medical and psychological
– Social skills (group work)
– Educational
• Management of the family:
– Parent courses
– Parent support
• Information/education about the condition:
– For the parent
– For the child.
2/13/07 5:38:41 PM
 Goals for management include:
• Fostering of development
• Promotion of learning
• Reduction of stereotypy
• Elimination of maladaptive behaviours
• Alleviation of family distress.
There are different approaches to management, which
will be used in conjunction with each other.
Pharmacotherapy
In the US 30% of children with autism and 55% of
children with high-functioning autism and Asperger’s
are on medication. The corresponding figures in the
UK are only 5% and 10%.
Drugs will not generally affect the core symptoms
of autism (and there is no evidence at present of long-
term benefits) but they can ameliorate symptoms. It is
important when considering medication that you are
clear about the specific symptoms you are targeting and
that ongoing behavioural and educational management
is continued. Ensuring safe and consistent administration
and monitoring for side-effects is essential. You also need
to consider who you are treating (child, parent, doctor,
teacher) and make sure you have informed consent as
far as you are able. Substances suggested as a general
treatment for autism are:
• Secretin. There is no evidence from randomized
controlled trials of any benefit.
• Vitamins, minerals, essential fatty acids and metals. No
studies have shown any effect.
• Gluten- and casein-free diets. These have their supporters
but robust evidence is not yet available. Some children
with autism have distressing bowel problems and
a gluten- or casein-free diet may decrease bowel
symptoms and greatly improve general wellbeing.
Family support
This is important from the start. Some support will
come from the medical and educational teams but
families should also be made aware of local and
national parent groups. There are practical issues that
can be addressed and which will make life easier.
Behaviour management
Difficult behaviours can be analysed as follows:
• Instrumental: in order to get something
• Social: in order to get attention
• Self-stimulatory.
The first two types of behaviour are most amenable
to behaviour therapy and the last type to drug treatment.
Educational management
Many educational intervention programmes are advo-
cated in autism; some claim to provide a ‘cure’ but
V0229-F01906.indd 47
most claim only improvement. Most approaches have
in common a high degree of one-to-one intervention,
often with highly structured activities. Some focus on
parent intervention and some use professionals or
trained workers.
Multidisciplinary teams
Many children will benefit from going through a
formal multidisciplinary assessment and management.
This may be at the local Child Development Centre or
may be within the community.
http://www.cafamily.org.uk/NAPFront.PDF
National Initiative for Autism: Screening and
Assessment
http://www.nelh.nhs.uk
National Service Framework for Children. Autism is
one of the topics picked out as an exemplar condition
Q7. What is the prognosis for this
condition?
The degree of independence reached by a child within
the autistic spectrum depends to a major extent not
only on the degree of intellectual impairment, but also
on severity of the autism. Parents have a real anxiety
that some children with high-functioning autism and
Asperger’s syndrome will find it hard to manage on
their own. Undoubtedly some people with autism do
MODULE S IX
very well, and there are a number of accounts written
by autistic people about their experiences that give an
insight into what autism is like from the inside.
Classic autism
Classic autism has a prevalence of about 0.5/1000.
This rate has remained fairly steady over the years.
The corresponding figure for Asperger’s syndrome is
around 0.25/1000.
Autistic spectrum disorder prevalence is between 3
and 6/1000, rising to nearly 1 in 100 in studies seeking
out the whole range of disorders. It appears to be rising
but this is likely to be because the diagnosis is being
more readily recognized.
Aetiology of autism
A long list of associated conditions have been found in
studies of children with autistic spectrum disorder:
• Fragile X syndrome (p. 32; either some autistic
impairments or full autism)
• Tuberous sclerosis (p. 9; 43–60% of children with
tuberous sclerosis will have autism or pervasive
developmental disorder) 47
2/13/07 5:38:41 PM
 • Phenylketonuria (p. 97)
• Neurofibromatosis (p. 9)
• Down’s syndrome (p. 30)
• Williams’ syndrome
29
• Duchenne muscular dystrophy (p. 17)
• Non-specific dysmorphisms and other
Neurodevelopmental disability
chromosomal abnormalities
• West’s syndrome (p. 8)
• Hydrocephalus (p. 24; 23% have autism)
• Severe sensory deficits
• Congenital infections
• Encephalitis (p. 292)
• Hypothyroidism (p. 108)
• Fetal alcohol syndrome
• Neurometabolic disorders (p. 93).
Autism is probably under-diagnosed in many of
these conditions because, once a child has a label, there
may be reluctance to pursue an additional label.
A variety of possible aetiological agents have been
proposed, but convincing evidence for any of these is
not available. There is no evidence linking measles/
mumps/rubella (MMR) vaccination to autism.
High-functioning autism and
Asperger’s syndrome
These are not ‘mild’ autism! The distress caused to the
child can be greater than with ‘classic’ autism because
of the awareness the child has of the difficulties
without the ability to understand them.
What worries me is that when Jonathan leaves school he’ll
have 6 or 7 GCSEs but he won’t be able to go out and buy
himself a shirt. (Parent of a boy aged 15 years)
David knows that when he walks into the tennis club he ‘gets
it wrong’, whilst his younger brother Peter is fine. He doesn’t
understand why this is and he gets very depressed. (Parent of
a boy aged 11 years)
48
V0229-F01906.indd 48
The characteristics are as follows:
• Presentation is usually after 3 years of age but, with
hindsight, indicators can be identified in the first
3 years of life.
• Language may be normal, at least superficially.
• Presentation is often via the school with
behavioural difficulties, school failure and
‘oddness’. The difficulties become apparent with
the pressures for social conformity at school.
The terms high-functioning autism and Asperger’s
syndrome are sometimes used interchangeably but
there are differences.
Asperger’s syndrome is characterized by:
• Highly developed special interests
• Verbal IQ being greater than performance IQ
• Frequent clumsiness
• More social interest than in high-functioning autism
• Socially approaching (but may be unusual or
inappropriate)
• More insight into own thoughts and feelings
• Greater desire to fit in
• Cognitive (but not empathic) understanding of
social rules.
These difficulties can give rise to:
• High levels of anxiety
• Psychiatric morbidity
• Socially manipulative behaviour, such as school
exclusion
• Problems gaining independence
• Vulnerability, both socially and practically.
Acknowledgement
We would like to thank the Sheffield Distance Learning
Programme for Paediatric Neurodisability and in parti-
cular Dr Hilary Cass, Professor David Hall, Dr Mike
Smith, Dr Connie Pullon, Dr Peter Baxter, Sian Bell
and Dr Karen Whiting for their kind permission to use
materials they have written.
2/13/07 5:38:42 PM
 Neil Kennedy Malcolm Levene

Disorders of bones 33
and joints
Leaming outcomes 81
Clinical assessment 81
Developmental dysplasia of the hip 82
Arthritis 83
Henoch-Schonlein purpura 88
Rheumatic fever 88
Polyarteritis nodosa 88
Systemic lupus erythematosus 88
Dermatomyositis 89

.. • •
By the end of this chapter you should:
• Be able to screen a child for joint disorders
• Be able to undertake an examination of the major joints
• Be able to undertake a screening test for neonatal development dysplasia of the hip
• Know the common causes of limp
• Know the presentation and management of bone and joint infection
• Know the common causes of joint swelling
• Know the presentation, classification and management of juvenile idiopathic arthritis.

Clinical assessment
Fxarnination of the joints is often only a cursory part
of ... rouline diniGlI cxamination (eh 5) If il child
prc~nt'l wilh ioint or bone pain. then more careful
hislory and examination arc required.
History
Imporldnt qut'stions in the history include:
• WI,<ll 1$ flIt' tldtllrt' of 01(.' ('<'ill (dr/lira/gil')! Ask
about location, exacerbating and rclie\'in~ factors,
radiation and timing of OlISt't of the p<lin (wh£thcr
it IS rel:'lted to times of the day). Pain or immobility
(stiffne5s) first thing in the lllominK is SUAAcstive
en
of an inflammatory CdUSt.:. Pain cxaCt:rb:l.I~d hy
cxerci:.c sU)IJ;C'lts d rncch"'niC<11 (;'lUse and usually
re:.olvt's with a period of rest.
• Are tll(~re COIl5/IWt;Olltl/ symptoms? TIIL'Sl' incllK!t'
-><
fc\"cr, f,lIiguc. anorexia. weight loss and rashes.
• Arf' tlwre emmiOlllll, fillll/ly or Sc!IOO/ ref,lIl',l problt'IIlSf
Non organic causes of limb 1J'lin OIfC common and
Me discussed ill Chapter 24
Examination
• Gdit With an :mtalgic (painful) gait the child
spends as little time as possible during the walking
C)'de on the painful leg. Irnport:tnt poilUS include
the :lbility to weight-bear on a joint. 81
 BOX 33.1 Screening examinatIon for significant
musculoskeletal disorders
1. Walk on tip-toe and on heels.
2. Sit cross-legged on floor and then jump up.
3. Extend arms straight out in front and make
~ a fist.
,-
'0
1J
4. Place palms and fingers flat together with
wrists extended 10 90° in a 'saying prayers'
position.
ffi 5. Raise arms straight above head.
en 6. Turn head to look over each shoulder.
"5
.0
• R,jslr. Look carefully for rashes (in panicuJaron the
fan~. eyelid~, flexor surfilces ofioints and knuckles).
'0 • JI,,'lIscie IImdcmcu or wasciJJS. Assess muscle strength.
~ • loill! t'XlllllilliUiO/I. Look for:
""E
l:vic!CT1CC of \\'a~t ing or Iimb length differences
Redness of the Joint
o Swelling
,~
o Itmge of 1ll0WIlll'llts (are there joint
contrarlllresl).
It may be useful to perform a screening musculo-
~keletal examination if in doubt a~ to whether
the child has an organic cause for the joint pain
(Box 33.1). A child who can perform aJlthese functions
without difficulty is unlikely to have d significant mus-
culoskelet<ll problem.
Developmental dysplasia of
the hip
This refers tn a di~order of hip development that may
predispose to dislocation either at birth or later. Ilip
imtahility is prc~ellt ill 1:60 neonates and, before
the introduction of widespre<ld c1iniC<l1 neon<lt<ll hip
screening, late dislocJ.tion occurred in 1-2 per 1000 live
births. This incidence has fallt::n with routine screening
but theconclition still occurs in 0.8 per 1000 live births.
Risk factors for developmental dysplasia include:
• Gender: it is six times more comlllon in girls than
boys
• First-born children
• Breech position in utero
• !\1;llernaloligohydramnios.
Screening
All newborn infants should he routinely
" examined for hip dysplasia. Repe<lt screening is
recommended dt 6 weeks and 6 months of age
by the CP or health visitor.
82 Newborn screening involves the following elements.
Is the hip in joint?
Inspect glute'll fold~, Arc they symmetrical I Are the
legs of equal length? If either of these is <1bnorm<1l, it
suggests the hip Illay be dislocated.
Test hip abduction. IfllH:: hip ahducts flllly, it is not
dislocated.
Is the hip stable?
If the hip is not dislocated, then its stability ~hould
be tested by Barlow's test. '111e essence of this test is
to exert downward pressure through the ft::Jllur to sec
whether the hip can be dislocated ha(kward~, If the
hip is unstable, 'l 'dunk' is felt as the head of tile femur
is pushed over the lip of the acetabulum .
Can a dislocated hip be relocated?
If the hip cannot De fully aDducted and dislocation
is suspected, then the Ortolani lcst is used to attempt
to relocate the hip into ioil1t. Upward traction on the
femur is used to relocate the hip in the acetabulum.
Relocation is accompdJlil2d by d 'c1ullk' so..:nsatiOli.
Once the hip is relocated, then the hip can he gently
<1bducted
Ultrasound assessment
Ultrasound examination of the hips is a wry useful way
of determining hip architecture and is widely used to
assess the child who is at high risk of hip dysplasia or
where there is an equivocal screening test.
Management
The dislocated or dislocatable hip should be reduchl
into the acetabulum and maintained in the position of
flexion and abductiollulltil it becmllcs stable. A ViHiety
of harnesses are Llsed to rnilintain stilbility, including
the Pavlick harness, the most widely used. The hips
arc located into the harness under the ~upervi~ioll
of an orthopaedic surgeon and Ihe harnes~ is worn
continuously for 12-1 (, weeks I~egular adjustments
to ensure appropriate fitting of the Ildrne~s arc
required.
Dislocation diagnosed after 4 months of age will
require specialist orthopaedic attention. Initially J
2·week period of traction i.~ initialed, followed by
surgical intervention to ensure the hip is relocated and
remains stable.
Complications
Avascular m::crosis of the fel11or<ll head is tho..: 1110st
impomHlt serious complic<1tion This Illay arise;'ls the
rt"sult of forceful reduction or immobilizing Ihe hip BOX 33.2 Causes of acute limp In children
tOO fully in an abduction harncs::. or ~plinl.
• Transient synovitis (sometimes known as 'irritable
hip')"
• septIC arthritIS/osteomyelitis of hip, femur Of
Arthritis knee"
• Trauma"
Problem-orientated topic:
• Perthes' dIsease
the child wrth a limp (see also • Slipped caprtal femoral epiphysis
Ch.24) • Juvenile idiopathic arthntis
Conor i6 4. He i6 brought to the accident • Idiopathic chondrotysis
and emergency department having developed • Neoplastic: osteosarcoma/bony infiltrate of other
malignancy
a right-6iaea limp a day ago. He has had a
, Common cause
recent 'cold'. His mother tells you that he
fell off hi6 6cooter 4 days ago, but other
than cutting his knee, he had no major Injury. Table 33,1 Features differentiating septic arthritis from
irritable hip
On examination, he is pyrexial (38.3°C)
Feature Irritable hip Septic arthritis
and appears mildly unwell. He ha9 a healing
Fever Mdd "<Jh
abrasion on the right knee, which doe9 not
Sysl~'c up:3CI'l Norlelm d
appear to be infected. When a9ked to 9tand,
~e cell CCMXl! (W(X:) M~d T
he will weight·bear only on hi9 left leg and
holds his right leg flexed at the hlp. When Ery1'1fOC'11e seclrnenl<rkln Midi
rate (ESR)
lying down, he will allow you to flex, extend,
adduct and abduct his hips. However, pa99ive l-"","'''' '''''''"
I~ ... throst?
internal flexion of the right hip CaUge9 him pain.
"" No

Ql. What IS the differential diagnosis 01 a child With
a limp?
Q2. How can you dIfferentiate septic arthntis from
'irritable hip'?
Q3. What are the causative organisms of septic
arthritiS?
Q1. What is the differential diagnosis of a
child with a limp?
imponam differE'ntial diagnosis is septic arthritis
and the main distinguishing features <HI' shown III
Table 33.1.
CanOT prohahly has 'irritable hip'.
Q3. What are the causative organisms of
septic arthritis?
• s/(lpl1)!/oC()('(ljS mm'tlS (75% of cases)
• Croup A ~ hncmolylic strt.:ploC"OcCUS (Sln'/'.
/1yoxelles)

These <Hl'li~h:d in I~ox 33.2.

Q2. How can you differentiate septic

• Slrep. rl1etmWlIIlll'
• Croup U ~ haemolytic streptococcus

Osteomyelitis and septic arthritis

arthritis from 'irritable hip'?
'Jrrit,lblc hip occurs in up 10 3% ofchildren octw('cn 1
and 8 }'f'ars, mort" commonly in boys. I'ypirally a child
will develop a limp.1 few days after an upper respiratory
lrdel infection 111e child remains systemically well.
On l'xdlllinillion, internal rotation of the hip may he
Iimiledl he child rests with the hip held in flexion
and eXlcrnal rotation. Ultrasound will often show all
effusion of llw hip. The ~yndromt' is probably caused
by a transit'nI reactive hip synovitis. MOSl cases settle
in 5-10 days. with symptonldtic lre,Hlllenl only. The
(lll'Ollillt-"I (lilly).
-
Ul
><
In thi:. conditiontlwf(' is infection in tht' hone II most
cOllllllonly arises as the result ofhaematagenous spread
and rarel)' following trauma. Septic arthritis liMy devt"1op
as a result of dircrt ~pR'3d from adJacent o~teomyelilis,.
e.1lt'Cially III )'Ounger children and neonates. 1111." most
common site of involvement is the lI1et.lph)'~is of long
bones or \'crtcbr.ll bodies.
Osteomyelitis may be acute, subanl1e or chronic.
Subacute is usually the result of less \'irulcllt olg'-llli"ms
and chronic w.ually arises as 11 r('Slilt of il1<ltlequalely
1rt"alt~d infection 83
 Presentation
['ain and loss offunetion are the most common preS(>nt~
ing fc.1tures "Inc pain can usually be localized by the
child and if a lower limb is involved, limp or refullal
10 w"lk is common Hip infi'C110n results in the child
lpng ..",ith the hip flexed and in internal rotation, with
~ the knee in flexion. Localizing sign:> .m: le"S obvious

.-o
"tl
.... ht'n the primary infection arises 10 pd..·is or spine_
"eon.lIes presenl with non specific signs, including
unstable temperature, poor ft:t.'ding. pallor, recurrent
ffi apno('<1 and pseudoparalysi<; (maintaining the limb
<Jl completely immobile). The affected limb may be
ill
C swollen and tellder to toudl. Di'lgllusi~ requires ;lware-
o IW"~ of oloolt'ornyelitis ;IS a Gluse of severe infection in a
.0
nOll <;pecifically unwell baby.
(;
III/C( rill~ ()I~(/ni.\ms
~
ill In r\lmp'-' Sli/ph. (wrClIS causes 7';0/.., of osteomyelitis
-e infection, Other infecting organisms include group A
g ~-h.ICl\1ulYlic slreptococcus (Slrf'{l. pJ-~)se/ll~) and Slrep.
,,,wlmIOlli(Il', In the neonate, group 1\ f!-haemolytic
Q
streptococcus is rdati..dy common f-(llemopllilllS illJ1l1ell-
Zolle type b (1Iib) is now vcry roue due to widespread
iIIlIllUlliziitioT1. Dtlll'r organisms to Iwconsidl'red include
llItM>rculosis (usually insidious in onset), brucellosis and
AI}{Op/llsm.1 pm.>llmollille (these latter two may both Fig. 33.1 X-ray of femur showing periosteal reaction in
CilllSt: low.gr.ule <;eptic arthritis). acute osteomyelitis

Investigations
Aspiration of a septic joint is always rL'COllllll('nd..d
I-ull blood count. t:.SR and <..:;. reactive protein (eRP)
for diap,nostk purposes. Surgical drainage is necessary
usually suggest infection. Blood cultures should be-
for <;cptiC arthritis of thl' hip 10 minimize risk of
taken prior to starting antibiolin. (uhllrl' from bone
avascul.1T necrosis ofmc fellloral he.ld.
or a Joint effusion may identify tb(' org.lnism, together
An ill d1ild will rL"quirc supponivl.' 'MI.', often Dn an
with a marked pleocytosis in the :.ynuviaJ fluid.
intcn<;iw care unit.
111c firl'1 X-ray change i~ periosteal rt'daiol1 (Fig. 33.1)
;Uld i.. M'en wilhin a few d.l}"S of infeCtion with bone
Complications
chanf;es later. Radionuclide bone SGIllning may rcvt:.l1
OlltC'OIIll' i~ lI~uallyg()(X1 with earlytrealmellL Disturbance
.\rca~ of l11ultiple infenion. In M'ptic Mthrilis the early
of honl' growlh may occur foliowil1J..\ M,:plic dl'thrilis or if
radiological fl',ltllres are ost€openia of the epiphysis,
ostoomyelitis illvolves the epiphy~is. c'hrollic cl.\teDmyelitis
incre.lsed joint space and soft lbsul.: swelling. Ultra·
l11ily lead to bune necrosis and sequ~tr,ltion
sound imaging rnay rCWill Ouid in the joint

Management
Farly administration of antistaphylococcal antibiotics
(tlucloxacillin and ccfotdXill1l' in a tll..'Onatc or child
helow 2 years; f1ucloxacillin and ampicillin in an older
chIld) in appropriate dos.lge is essential. A broader-
spectrum choice is recommended in inullunosuppressed
childrcn until the organism has been idl'ntified_ It is
recomml'n;:!l'd that intr,lwnous .1ntibiotics are used for
at least J days, followed by an oral course for 3-4 weeks
if the f;.....el hdS settled. NL")Ililtcs requirl' a longl'r intr"·
VI'IIOUS course,
'I he role of bane drilling in the management ofthi:.
condition is controwrsial. Biops)' for microbiological
84 diagnmis may oc uSl'ful
Reactive arthritis
Arthralgia :md jOlllt swellin~ m,ly occur directly or
indirectly as a result of il l1ulll~r of infl'CtiOllS Viruses
such as rubella, pan.ovims (erythrovirus) and varicella
commonly Glll5e a shon period of arthralgia.
True 'reactive' arthritis occurs ,Ifter l'l\ll.'ric infection
wilh S<JlfIltJllell.J, SlugrlkJ, Ymmlll and Gml/'}'fMIClfT and
is o(len associated with the child expressing the IILo\ B27
antigen loint(s) of the lower limb drl.: usuOllly in\lOhfil
in an asymmetriGiI manner. OilClylitis (swelling and pain
of interphalangeal foints) m.1Y also occur. Non-steroidal
anti inflammatory drugs (l'SAlDs) MC indiraIPd until
pilin and swelling regres....
Swollen joints BOX 33.3 Differential diagnosis of a child wtth
limp and JOlOt effusion
Problem-orientated topic: • Infection
- Viral arthritis
swollen joints - Septic arthritis
Stacey (3 year!:> old) pre6ent5 in the - Reactive arthritis
outpatient department. She has been • Juvenile idiopathic arthritis (JIA)
complaining of pain in her knee on and off for • Vasculitis
- Henoch-Schonlein purpura (HSPI
6eVeral week6. The pain is mainly in the momlng.
- Kawasaki disease (p. 286)
and gets better over the day. In the la5t - Polyarteritis nodosa
10 day5. ner left knee has swollen. She Ie
• Trauma
otnerwise well. On examination she has an • Autoimmune disorders
effu6ion of the left knee. There Is mild pain when - Systemic lupus erythematosus
you pa5sively flex the knee l7y more than 60°. - Juvenile dermatomyositis
• Malignancy
Q 1. What is the differential diagnosis for - leukaemia (p. 418)
Inflammatory arthritis in children? - Neuroblastom~ (p. 421)
Q2. What is the classification of juvenile idiopathic • Blood disorders
arthritis (JIA)? - Sickle cell disease (p. 263)
- Haemophilia (p. 268)
Q3. What type of JIA does Stacey have?
• Drug reactIons
Q4. What are the principles of treatment of JIA?

Q4. What are the principles of treatment of

Ql. What is the differential diagnosis for JIA?
inflammatory arthritis in children? These are sUlIlmMizcd as follow~'
'I he differenti.ll di;l~nosis is li~lcu in Box 31. '3 • An NSAID is Ih.. firSi-line drug.
• Intra-articular conicosteroids drc vcry cfTcCli\'~ at
relieving pain.
Q2. What is the classification of juvenile • .\-tcthOlrcxatc is indicated for persistent synovitis
idiopathic arthritis (JIA)? • llwTe is only a. veTy limitoo role for sy:.lcmic
'Ihe most rc<el1l c1assificalion proposes the following corticosteroids.
~ublypes of II A: • ""I,lllab>ement must bt>: within a muhidisciplinJIY
\. ~}'Slemi( arthrITIS ,..:1m under the supervision of a pJediatrk
2. Oligoal1iculal' Jl'thrilis rheumatologist.
(,I) PnsislcllI '....Iule dctJils of m.11l:lgemenl arc discusscJ lJelow in
(b) l.xl..nd..d
3. Polyarthritis: rheumatoid factor (RF) neg3livt:
4. Polyarthritis: RF pO'litive
5. I.nthesitis-rt:lat..d arthritis (inflammation at
insertion of tendons into bones)
the s("ction on 11/\

Juvenile idiopathic
-><
Ul

6. Psoriatic arthrilis arthritis (JIA)

7. Other arthritis
@ http://www.medscape.comlviewprogram/5690
Juvenile IdiopathiC ArthntlS: Irl$lghts Inlo ClaSSification,
Outcomes and Trealment
Q3. Whallype of JIA does Stacey have?
Stac!.-"y probably has th(" oligoarthritis form of IIA (sec
bt-IQ\~' for a description of this condition).
111i~ repr("sents a. spectrum of disorders mus' n:Cl>ntly
classified as )lA. II is ,I diSt'ase of children wilh onset
beluw I Ci years of age :md presellls as synovitis (joint
swelling, limitation of movement. or I'ain) pt:rsi~lillg
for at least 6 wccks. In addition, vilricties of 11/\ include
JilTerclU distributions of synovitis and som("limes other
dinirnl involvement ')uch as skin, eyes and IlCan.
rhe incidence of IIA is 10-20 per 100 000 chddrt'"n
in Europe and Ill{' liSA 'Jwice lht'" nllmber of girls as
hoys art'" a(f("oed. Ihere an" twO p<.>ak agcs of onsel: carly 85
 and 1.110':_ In the early group presentation is at 1-3 rears
.md is mainly of Ihe oligoarthrilis foml, affecting girls
'Inc SL"Cond <lgc peak is at 9 years. and boys and girls
are equally affened.
<II Basic science
E I'here is a <;trong genetic basis 111\ ha<;cd on silllo\k
'0 10
'-c
'0
nucleotide polymorph isms (SNPs, eh. 9) or the major
histocompatihility colllpkx (Mile) 011 chromosome
III 6. Ihe human leucocyte antigen (III.A) gt·nc.~ comprise
<II ,Ill illlportJl1t part of the "lite and susceptibility to JIA
Ql
c is panicul,uly a~S()cialcd wiLlI HL.A A2. DRS, DRS ,lOd
o DP!Jl"0201 In older boys, oligo:lrlhritis is assm:ialed
D
with lilA B27. Genetic susceptibility may fe-quire a
'0 St'Cond clwironmCI11.11 trigger to induce disease. Triggers
<II
~ such as inft'ctivt' agents may <lCCOUlH for st-"asonal
Ql vilei.ulans in the onset of this disease.
'E Innammatioll is 1I11:clidted throu~h expression of
g CYlOkines, a family of soluble proteins th:1t c.xcrl either
o pro-inflammatory or anti-inflammatory activity. In )IA
ct>rtain pro-inn,llllllhllOI)' cytokincs, such as tumour
necrosis fanor-,tlph,t (TNr-a), induce release of tissue-
destroying metalloproteinases 0111(1 stimulate n,'least:
(If other mClIl!x:1S of the pro-inflammatol)' cy10kine
cascade "I "JI-ft i" produced by aniv,ltl.:o llhtcrophagcs,
I' lymphocytes ,md synm,jal cells, and cOlllribute. to
joint destruction.
Clinical features
R Ihl' d.1:."if.ll prc:;entauoll of J11\ is joint swelling.
redness, pain or t~ndernl'ss in the affected joint,
and limit.ltion of joint movement Morning
stiffness i:. a willmon complaint in children. 111(.>
presentation Ill<ly be dramatic or protc<ln, Jlld SYSt~lllk
fe.uurcs are seen in systemic anhritis
rhe form of IIA C<tll be defined on the b,lSis of joint
involvement <I:. well as involvement of other organs.
Oligoarthritis
Oligoanhritis ref('rs to dbease dffl.'Ctillg 1-4 joints
during the first 6 monlhs of the illness It is thl' most
wmmon form 01 llA dnd accounts for 50% of affected
children: mainly-girls with pea!.. age ofonsct at 1-3 years.
It most commonly presents imidiollSly with isola\('(1
join! in\"olvcmelll, particularly of knee or ankle, or
more rarely ,In upJWr limb joint. Eye invokcment
(uveitis) may occur ,1nd all affecled chi ldren "hould bo::
regul,uJy screened by an ophthalmologist
The child m<ty present with a limp but [,.lTely COIll-
plains of severe pain On ex;unin<ttion the joint is hot
al1d ~wollcn and an effusion may be present. Clinical
signs inrlud... redunion in passive movement, which
86 may rt'l>ull in contractu res in long-standing discil!>e
Affeaed childrE'n lIsually h,we positl\'t' antinuclear
dntibodies (A."\lA).
Polyarthritis
Ihi" refers 10 di'iCl~ .Iffceting five or lIIore joints during
Ihe fir.>t 6 momhs ofillnes5, and ocm", in ahout25% of
dlildren with IIA. II usually involves joints symmetrically
·1 he poly.ulhriti:. e<l11 be further ~ubtJividuJ into sero-
positive and seronegative forms, bd~"(1 Ilil wh('thl'r or not
I~M rheumatoid factor is present. Seronegative disease
is much more COlll1110n than scropo:.itivc diseasc in
children.
Seronegative polyanhritis has a peak incidence at
6-7 ycars and I1My be insidious or morc dggressivc in
some children. ~ropositive dis.::ase start" later in laiC
chiJdhood or adoJescence and affects sm.1l1er joints of
hands and feet.
Systemic arthritis
In this form, joint involvement is acwmpallied b}"
fever and other systemic features. It <lCCOltntS for aoom
10% uf case. of JlA dl1d occurs at a pc.1k age of 5 years
·Ihe fever usually follows a characteristic pattem, beilllo\
present for at least 2 week.s, <lnd spiking once or twict'
,I day, u:.ually in the eYening, ilnd rcturnin~ 10 normal
bet\\'et'tl spik.,s (rig. :,n.2). t\ P:lle pill!.. l\I<tcular rash
and malaise are panicularly common when the child i<;,
pyrexial. Lymphadenopathy, hcpalOmCJ}1.ly or spleno-
megaly is aIM> commonly present. &~tlUSC of the
similarity to malignancy in the way this disrnse \lresentS.
olher conditions must be: carefully excluded (eh 51)
Joint manifC'>I,1Iioti is ..... riable but is IlIO:'! commonly
of the polyanhritis form. ~me childrl:'tl haw a very
aggressivc form, with joim destTuaion wilhin 2 years
Investigations
111C presence of antinuclear antibody factor (A "JI) and
r1WIIlTl:ltoid f,H"tor (RF) is import,lllt in d.l:.sifying the
disease A positive ANI' in oligoilnhriti:. i~ a risk factor
for u\'citis.
Ultrasound is a :.ensitivc imTStig.1.tion for joint
effusions and may hf'lp guide nttdle ,,"pir,llinll of fluid.
Radiology may show the followlllg fe.11Ures
• Enrlpi.":/IS: !'Criarticular osleo!'Cnia (I;ig. 33.3)
• IllIermi"dj(Ilf'~ISlls: conical ern'lion:. (rig 'HA),
joint space narrowing and subchondral cysts
• I.IJle sig/Is: dt.~tructi\'c ch.lllges with ankylosis .1tld
growth anol1l:lli(":i.
Management
'Ihe management of children with Chrullic disorders
muSt be wilhin iI multidisciplinary leam (Ch. 18) and
under til(" supervision of a paediatric rheumatologist
 10 14 18 22 02 06 10 14 18 22 102 06 10 14 18 22 02 06 10
Day 1 Day 2
40'
39'
38
37 + ••••••••••••
36'
35'
Fig. 33.2 Typical temperature chart 01 a child with acute-onset systemic rheumatoid arthritis
Fig. 33.3 X-ray of knees showing periosteal osteopenia in
a child with seropositive rheumatoid arthrItIs
Physiotherapy aims to maintain ioint fUllCtioll, with
an OCCulMlional lherdpisl 10 faci1il.ll~ norm,ll living
skills .1nd pr()\'lsion of aids to overcome impairment.
Well-fining splillLS to support aculdy inOdlllcd juints
are of panicular import,lIlct'
N$AIDs art' the first-lint' drug at diagnosis. Inlra-
articul.u cortiCOSIt:roids arc very effective at relieving
pain and may prc\iCnt or rt'duct' synovial dam"ge and
dis"bihry \1t'lhOlr~xatt' is indicated for persiSlenl
synovitis and has been shown to be effC<live for "II
I}'IX-S ofllA.
1~ 18 22
0.,3 Day 4
............... j .
I
Fig. 33.4 X-ray showing destructive changes of carpal
bones in a child with polyarthritis
!kcently, ,mti TNF therapy has been shown IU gin'
significant benefit to children with polyarticul.u IIA
-><
U)
who failed to rec;pond 10 methotrexate. It has bl.~11
shown that 60 iO'*. of children who faillU R'SI){)lId 10
lllethotrcX<\tc show some impro\'t~lllent with anti INF
therapy. Lung-term safety of these agents has not ~n
fully assessed in children. Further drug lIl<1l1dgt'IIlt::1\I
schedules depend all the type of jI" lhat the child
show). 111t:' role of systemic conicosteroids in 11/\ has
reduced in recent years with Ihe introduction of more
effective drugs such as methOlrexate II may Iw \·aluahle
for inducing rt:lIli~si()n in panicularly aggressive forms
of Ihe dise.lse. 87
 Complications BOX 33.4 Modified Jones criteria for the
I dlagnO!U8 of rheumatic fever
Uveitis occurs in 10% of children with )IA. Acute
painful iritis is r,lrC but is .seen p..·uticularly in children Major criteria
Wilh cntllt..':litil> P.lilll~~ ,mtt'rior uveitis is more insi- • Polyarthritis involving large joints and flitting'
dious. ,md if unrecogni7Rd, may CIUse severe visual • Carditis'

~
imp,lirment. pdfticularly in school age children with • Chorea (Sydenham's)
oligoanhriti,,; it is ~trol1gly al>..odated with A"t\.
,-
'0
tl
Regular ophthalmological asse"Sments are necessary
for rcrogni.ling .lIlt! trcating this condition.
•
•
Erythema marginatum
Subcutaneous nodules on extensor surfaces
C Minor criteria
111C major rOl1lplic<lIiOl'.. of lIA are bone t>rosion
'e"n le.1ding to disfigurement and major mobility problems. • Fever

".8c !\. multiprofcssional approach is required to minimiLe

the de'itmniw pOll'lltiill of this condition.
'0
~ Henoch-SchOnlein purpura
Q)
Ilt'noch-c.,dHlll lei n purpura (lISP, set' also pp.
'Eo 134 and 26i) is a vasculitic disorder affccting
,!!1 joints_ bowel ,1IId kidneys (I'. 203). The cause
o IS unknown hili in SOlTlt' cases liSP is apparelllly
tris;gcred br an upper respiralOry lr,lel infection.
It Ius an incidence 01 10-15 per 100000 children
and Wiually pr('senlS in children below the age of 10
years, \"ith a peak at 5 years
Childrcn PICSCIll mOSt commonly with a purpuric
rash charaoeristirall}' involving bUllOCk.., lower limbs
and elbows andlor anhralgia with joint swelling (see
DVD 28).Abdominal paino<cuJ1;commonlywith blood
in the ~lool, hL11 'Wri(}ll~ hleeclingand bowel perforation,
although recognized, are rare_ Renal involvement
(hacm,lturiafprolcinuri,l. rarely hypencnsion) occurs
in <;00/,., of ca~l'~. but pt'~i ..ting r":llil] di~":il ..e i~ rare and
is seen in only 1% of ca..es. llrinalysis for proteinuri:l
should be unden,lkcn r~ularly throughout the course
ofllw illl1l's~ 10 idclHify n;llal involvcmcilt.
IISI' is L1Sll,11Iy.1 relatively mild and henign condi-
tion thai resolves fully within 2-3 weeks of its onset.
Rn un":.ll CpiMJd":l> llLdy 0(\ lit' OVO::I" the nexl few wceks
or months
M,ln,lgclllcnt issymptolll,ltic, with simple analgesics
for l)din rdief. Thc Illdll<igCIllCnt of reLMI involvemenl
i" discu<;,sed 011 page 20')
Rheumatic fever
Rht'lJllldtic ft'\'t:I' ('kY "I~) P 229) i.. now rardy seen in
Western Furope bUl remains common in the developing
world It is due to ,1 complication of in fro ion with group
" Il-hat:'lIIolyti( SIII1I py,'S~" 11,c organi"lll induces
,1n immune· mediated reactIon, resulting in vasculitis.
Affected O~lns indude joints, hean (pancardilis,
arrhythmiJs), skin (crytl,em,l margilmtum, subcutaneous
88 noduleo» and hralll (c.,ydenham's chorea)
• Arthralgia
• Prolonged P-R interval
• Elevated ESRlCRP, leucocytosis
• Prev;ous rheumatic fever
• Common.
Clinical features
rhere are no specific markers of rheum.ltic fever, but
the diagJ10l>is b madc 011 thc ba~is of the prcscncc
of a numlxr of cliniOl.I features that are described as
the modified lones criteria (Uox 334) lhe diagnosis
is nMde on the presence of two major criteria or one
maior and two minor crileria, together with evidence of
recent group A streptoco<c,ll infection (poSiliw throat
swab, elevatcd omislfcplOl}'sin a tilrc (ASOT) or Dlher
antislrcptOCo("cal anlibodi,''')'
(~,., http://www.arthritis.org/conditionsl
...., DiseaseCcntcr/jra.asp
Management
• Eradication of streptococcus with penicillin for
10 days
• Symptomalic relief of Mthr<1.lgia with NSAI Ds
• Steroids: reserved for PilllCMditis
• Prophylactic pcni,illin "f:;fliml fllr1ht:r ~1rt:plOcoccal
infedion for ') years
Polyarteritis nodosa (PAN)
"his rrtrevascu1itic condition in children affects medium-
sized arteries and presents with non·spt.."dfte ~)'mplom~
including fc\"cr. lllillili"C, r.1~he .., and joint or muscle
pain Investig.1rion findings .1fe also non-specific and
diagnosis is made on abnormal biopsy appear-mce.
/l.lanagcmcnt "hould bc under the .. up~rvision of a
paediatric rheumatologist.
Systemic lupus
erythematosus (SLE)
This is rare in children but more common in ddolesct:'1lI
and young female adults_ It i5 an autoimmune condition
with non-specific signs and symptoms, including fOlcial
(butterfly) r,lsh, lhrombocytopenia, anhralgia and
fatib'ue R,udy severe renal or neurological SLE may be
life lhreatening. The [$R is usuallyclc\'3ted tim.! positive
."-'A i~ fuund in all cases. ahhollgh lhese findin~
.uc non-specific as they may also be positive in the pre-
sence of othCT diaWloscs. /I.·!anagcmellt should be under
the supervision of a p.1....--diatrk rhellrn;l1ologisL
Dermatomyositis (,.... ,1'0 I' 18)
rhis is a \'f'f)' rare disorder in children dnd is of unknown
.1ctiOlogy. 1110,: did~nosis i!> made all the hasis of a charnc-
trris\ic ril.,h together with:
• ~rmllletrical proximal muscle weakness
• Abnornhll muscle biopsy
• E!cV,ltl'd lTluscie enzymes
• Changes on electromyography.
Tht' rnsh IS Ihe first feature in about 50% of Cdse-,
affeeting eyelids (heliotropic rash), knllckl("i; (Cottron's
papuks) dnd extensur slIrf<lCes oflhe knees and elbows
(fig. 28.5). I rythema of the nailfolds is a panicular
feature.
Often the lI1usde weakness firsl bt>comes obvious
when diffiCtllly dimbingslairs or brushing hair is noticed.
.\,.Iusc!e pain is frequently a feature and calcinosis of lhe
musclc is well rl.."\ognized ,\"Iyositis is confirmed by
elevated musch' enzymes
'Ine mainstayofm,lIltlgcmcnt is corticm;ltroid the",py.
[krmatomyusilis is Oflt:11 a remining Illness. bUI some
children h<lVl" a rapidly progressiyc foml rcsultillK ill
major disability
Acknowledgement
V./e arc gl',Hcful to Dr R. Arthur for pt'rrni.~'\ioll to use
the radiogr'lph'\.
-><
rA
89
 Chris Hendriksz Carl Harvey Saikat Santra

34 Inborn errors of
metabolism
Learning outcomes 90
Basic science and cell function 90
Presentation of inborn errors of metabolism (IEM) in the neonate 91
Presentation of IEM in the older child 92
Presentation of dysmorphism and IEM 95
Specific disorders 96

.-
By the end of this chapter you should:
• Understand the clinical presentation of metabolic disorders in the newborn
• Know the clinical features of metabolic disease in the older child
• Be able to administer and interpret tests of common metabolic disorders in
conjunction with a specialist metabolic laboratory
• Be able to recognize, initiate diagnostic tests for and outline the management of
hypoglycaemia, persistent or recurrent episodes of metabolic acidosis (including
lactic acidosis), acute encephalopathy (including intractable seizures) and
neurodevelopmental regression/dysmorphism.

in carriers, it \\'ould still be sufficient 10 prevent Ji,>ea.~e,

Basic science and cell lhe exceptions are some X-linked diseases, in which
the majority of pJtienls will be males.
function

-><
tJ)
At a cellul'lr level the nucleus is the centre of or m'ljor
con1ribUlOr to gene expression. Enzymes are proteins
thaI are produced according to the genetic information
provided by the nucleus. ·nlis production process is
suppot-tcd hy other organdles that playa crucial pan
in Ihe fin<ll furKlionillg of the em;yme. Knowledge
of the supporting organelles that are associaled Wilh
dbeasc is incre<lsing but for simplicity the following
model may help ullderst<lIlding.
The nucleus holds the genetic material of the ovum
(lnd spccm from the point of conception. 111e genetic
m:llerial represenl,> an cqU<l] coillribution by both
parents in most circumstances Ihis equ<ll contribution
explains why in most metabolic conditions carriers are
90 nUl affe(1m, as although enzyme activit)' will be reduced
The mitochondrion h<l~ it~ O\\ln genetic mdleri:l] and
is referred to as the mitochondrial genome; it represents
only 1% of cellular nucleic acid material. '111is genome
consists of37 genes and ha~ been fully sequenced. The
mitochondria contain aboul 1000 proteins, of which
only 13 are encoded by mitochondrial DNA; the rest arc
imported but under control of nuclear encuded DNA.
Mitochondria are derived from maternal origin only,
as the sperm does not contribute to the mitochondrial
pool. Defl.'Cts ill thc mitochondri<ll gcnc arc inherited in
a m,lIernal inherit<lnG~ pattern also called cytoplasmic
inheritance. Creat variability within families with
maternally inherited mitochondri<ll disease can be
explained by the principle of heteroplasmy. Iletero-
plasmy is the unequal division of miLOchondria in the
e<lrly developmental phase, meaning tllal cells <lnd
 BOX 34.1 Normal enzyme function
Normal enzyme function depends on:
• Normal genetIC malerial in the nucleus
• Adequate energy supplied by the mltochondna
• Functioning Golgi apparatus and endoplasmic
reticulum
• Housekeeping organelles, like lysosomes and
peroxlSOmes
• VitamIns that are frequently used as co-factors
and enhance enzymatic function.
Abnormalities of these systems fonn the basis of
the common inborn errors of metabolism.
plood gas taken Py the admitting nur6e
shows pH 7.07. P8se excess -15 mmoi/l. PCO z
4.35 kPa. PO z 3.85 kPa and plood glucose
1.2 mmoi/i.
Q1. What are the three important groups of
disorders in the differential diagnoSIs?
Q2. What features make an inborn enor of
metabolism more likety?
Q3. What further investigations are indicated?
Q4. What are the main principles of emergency
management?

differenl ti~sues can get vari(lblr amOllnl~ of (Iffected

milOchondri.l. It i~ important !O realize th:n nOI all
mitochondri,ll disorders are matemally inherited. and
c,Kh ,llld eWIY fonn of inherilancl:' h:.'\ h.·ell a~wciated
with mitochondrial diseaSE. l'he unifying principle
is th.lI milochondri.ll dYl>funClion is associated with
energy ddidellC)' and Ihal is lhe C(lUW of dise<lst'
manif~laliom
The Iysosomcs are intracellular ofRJncJics that are
pnx..luceJ by lhe Colgi appar,llus dud are filled by
enzymes (Bo'( 'H t) rhese nuclear encoded enzymes
thai are produced in the endoplasmic reticulum
only function at low pH and this is only found inside
the 1~"'i(X()m('<; Ihey haw a houst'keeptng funaion
.lnd IOgether with the peroXlsomes, digest org;1nisms.
defective ol~llldlcs or foreign pilftidc:..
Q1. What are the three important groups
of disorders in the differential
diagnosis?
Neonall'S rrf'~('nl with non-specific symploms :md
hence the differential diagnmis is always wide. For
an acutely .lcidotic neonate the lhree /lIust wmmon
problems Me:
• sepsis
• Congenit,ll heart discase
• lEMs.
Although II "Is arE' individually rare,. Ihey arc:- collec-
tively not uncommon and hence the possihility of an
JF~"I should he cnnside~. as many C3Sl'S art' amenable
10 early tre.ltmel1l th.lt improves monalit}' .lnd long teml
neurologic.ll morbidity.

Presentation of inborn errors

of metabolism (lEM) in the Q2. What features make an inborn error of
metabolism more likely?
neonate
A number of ftlctol"~ in tlte hislOry ,1Ild t'x;\l1lination
Problem-orientated topic: Illay I";lise thCslIspicion oLmlEM 'Ihese include:

metabolic disease in the

newborn

Mohammed is a 5-day-old papy who has

peen rushed to hospital acutely unwell. He
• Pareillal consanguinity
• A family hislory of unexplain..:d de,llh~ ill infancy
• Maternal hisl0l)' of 111'111' syndrome (haemolr~is.
elevated liver enzymes and low platelets) or acute
fany liver of pregnancy
-
Ul
><
wa6 pom at term and has peen exclu6ively • Pn.." ious miscarri,lges or non·immune hydrops
prea6tfeeding well. He is the e>econd child of felalis
• \\o'ell period before deterioration (cff...' uit·ell'
consanguineous Asian parente> who lost their
dialyscd by pl'lrenta)
firot child last year from cot death. Over the
• I nCel)halopalhy ± seizures
lae>t 24 hour"6. Mohammed has peen feeding
• Metabolic .lcidosis with r.lised anion g,lp
less well, has pecome less respon6ive and now • Raised blood ammonia
look6 pale and mottled. his skin is cold to the • Ilypoglycaemia
touch. He is floppy and tachypnoeic with a • Urinary ketones
respiratory rate of 82 preaths per minute put • DYSlllorphic fcatuH.'S
hae> only mild supcostal recession. A capillary • Unll~llal odours. 91
 Types of IEM that present ;n the neonate Table 34.1 Further investigations in IEM in the neonate
These tall broadly into five dillicdl 'syndromcs', <I" Investigation Most Possibly Non-specific
shown in BOI( l4.2. helpful helpfut

"""" """"""
Sen."" \actt,.:e
'23,<; 4

'-0
BOX 34.2 Types of IEM that present in the CSF 3CT'·O 25 \ 3.':
E neonate
.!!1 Acii.Qmif 09P'0&9 '23.5 4
1. Acute intoxication picture

~Ql
CSf- all..,o aces 2 1 3.4."
• Organic acidaeml3S like propionic acidaemia.
sa......., <lrTW1O acods 2 34,5
methylmalonic acidaemla and Isovaleric
acidaemia lX<'II't Orgar'IIC aCids ,-" , 4
E • Maple syl\JP urine disease lJrne amlf10 aGOS 2 >-5
'0 • Urea cycle defects Urne Oligo' and 4 1,2,3,5
poIywoctl<Wldes
f'! • Fatty acid oxidation defects
g • Transient hyperammonaemia of the newborn
Q> 2. Encephalopathy with seizures
c
~ • Non-ketotic hyperglycinaemia or other Q4. What are the main principles of
o neurolransmllter defects emergency management?
D
.5 • Sulphite oXidase deficiency
Obvioll'i:l)' e,1(h IL\-l has its own specific lIIdll<lgclllt:nl
• Pyridoxine~ or folinic acid-dependent seizures
plan, bUl evell before ,) specific diagl1o<;is is made there
• Urea cycle disorders and maple syrup urine Me Mo:veral generic approaches to management that
disease
can be used:
• Congenital lactic acidosis • LlIII/IlIllle Imi. preC1lrso~ likel~' tu be protein, fats or
3. Neonatal liver disease and/or multi-organ some G1rbohydrales: lhen'fore slap feeds.
failure • /ellsure anaboliL" stale: maintain hydration and
• Galactosaemia supply sufficicm c.I1orit..~ in a siml>1I.' form ,>uch
• Tyros,naem,a a:. inlrawnou'i: 10% dexlrose Of glucose polymer
• Neonatal haemochromatosis
solution.
• RernOl!<" roxie melfll'Oljlf!~: may IK'(.:O dialysis
• Falty aCid oxidatIOn disorders
ur alternative pathway stimulation. I'or
• M lochondnal disease
hyperammonat>:mi.1 use sodium ben7..oatc and
• Organomegaly: glycogen storage diseases and sodium phenylbul)'ratt.' as well itS arginine. Choose
Niemann-Pick type C
carnitinc in organic ariclemi{l<;.
4, Non-immune hydrops and/or dysmorphism • Gil'l' wppOrtwc trealmem: correction of
• lysosomal storage disorders hypoglycaemia with dextl"oso.: ,111J <lCidmis
• Sterol metabolism defects like Smith-lemli- with bicarbollate ifl1t:txkd, Trt:ill ~hock ;ll1d
OPitz syndrome ClMglll(lp<lthy..[reat concomit;,'(nt or suspected
• Peroxisomal disorders (can halle Down's-like "epsis with broad-spectrum alHibioti(.\.
features) • R('illl,.odu~e appropriate feed wlwll diagnosis is
• Red cell enzyme defects confirmed' will need metabolic dietician's input.
5. Neurological deterioration and/or energy
deficiency
• MtiochondriaJ dIsease
Presentation of inborn errors
• PeroxlSomal disorders of metabolism in the older
child
It is imponam to consider inherited mct.lbolir diowase.
Q3. What further investigations are
in your differential diagnmis when preserued with .1
indicated?
child in Ihe followingdinical scenarios:
Using the numbered c,IIt..'gori,-"S shown in Box 34,2, • Iinexplained acute or chronic encephalopathy
in\'eslig,lIions can be planned a'i: mOSI appropriate. • Progressive m:urological di'i:('asc or regression
];,ble 14 I will provide the best guess investigalions in • Dysmorrhism
92 •1 neonale. • Ilypoglycaemia .
 "lany inheriled melabolicdi5e.l5eS areexlcerbated by
metabolic stress such as a prolonged fast or inlcrcurrcllI
illness and ~u, when presented wilh a child who is
di"pruponion,ut'ly unwell with some of the abo,,'"e
f€'alllres. Ihe diagnosis of a melabolic disease mu:'>1 be
considered.
Problem~orientated topic:
acute encephalopathy
Maya. a 6-year-old girl who is known to
have "een previou5ly well, ;s admitted "to the
ward with a ;;-day history of diarrl10ea and
vomiting. Her parents have "een increa&ingly
concerned a"out her "ecause she ha6 "een
Increasingly lethargic. although she ha6 "een
a"le to drink some f1uid&. On examination 6he
appear& 5-10\ dehydrated and &eem& to be
drow5y and confused. She is tachypnoeic and
tachycardic, and has a capillary refill time of
;; second&. She has developed &ome unu6ual
movements over the la6t few hours.
dexlrose 10 If)' to r('verse the c31abohe Slale. which m.l)'
make any underlymg meL1bolic disorder worse.
Q2. What is your initial differential
diagnosis?
Sec Rox 14.3.
I..'lrly identifiCiltion of enccpll<llupalhy i~ OfWll dif-
ficult and signs such t1" drow<;int':'>"- altered behaviour
or Iln:.leadines.s of gait/ataxia should alen )'Ou LO the
faet that a child is cnccphalopdthic. l\:.<;QCialru with
,·omiting. this is a :'>lrong indicallon for im-estigation
into an inheriled tnt'labolic disease
Q3. What investigations would be
appropriate?
Fi r:'I-1 ilie invesligalions into a ch ild with acute ellccpl L,l-
lopalhy should includc those shown ill Tilhle l4.2.
Man)' of tlll_':'>C invesligatitlll\ are also u5eful in
itlelllif}'ing the causeofhypoglycaemia bUI in ilddilion
blood should be laken for insulin. C-peplide. growth
honnone (GH), cortisol. 3-hrdroxybut),rale and free
fallyacids.

Qt. What would your initial management be?

Q2. What is your initial differential diagnosis?
Q3. What investigations would be appropriate?
Q4. What fealures 01 this presentation should make
you suspect a potentiallnheflled metabolic
disease?
Q5. What cooditlons cause hypoglycaemia?
Q6. What Investigations should be performed
before children are fasted for diagnostic
purposes?
BOX 34.3 Differential diagnosis for acute
encephalopathy due to an IEM
• Hyperammonaemia: late-onset urea cycle
disorders, orgamc acidaemias. liver failure
• Fatly aCid oxidation defects: cause
encephalopathy belore hypoglycaemia In older
children
• Late-onseVintennittent maple syrup urine
disease
• Porphyria
• Mitochondrial disease

en
-><
Tobie 34.2 First-line investigations in acute
Q1. What would your initial encophalopathy
T.., TO detect
management be?
nu~ inilial manab....rnent oflhu. girl should be as outlined
In Advanced I'.:,ediauic ufe Suppan (APLS, sec also Ch.
45), with a prinury sun'C}' addTCS:'>ing airway. hrealhing,
cirrul;nion. di~;thiliIY (Glasgow coma score, pupils. l.Ner fu'oClion teslS Rased Icansarnoases
posture) and exposure 'Ihese should then be ,lddrcssed Ketones;:md redo...ang subGlancos
before going on 10 complete.l sccOtlllilry SUI\·L]'. Ma}'<1 has CSF k"lC'!olo
~il-lll~ of respir.llOl)' dbtrcss allli shock ller aitw;>.y is ~t",ble
Hyporan rllOl1aomio
bllt she should be gwen f.'leial oxygen and;}ll intr.l\'cnollS
cannula should be inserted, with blood being laken
for initidl ill\,(::itigalions (including blood glucose)_
:)he will Ihen require a bolus of 0.9% saline and the
response should be assessed. II is also impart,ull to
com:ct hypog1YGl~miaand :,>l'lrt some inll"3\'t'nOIlS IOO,.{, 93
 Results of investigations in Maya ;lTC: Ketotic hypogfycaemia
• W 72 nmol/l This is the colle,tiw term for tlw most frequently ~eell
• J'C0 1 1.0 kl'a cause of hypoglycaemiil. It is a poorly understood
• lleO l 16.2 mmol!l condition but seems to represent decreasing fasting
• Laltale 2.8 mmoljl toler:m,e in the young child. It is fn:quo.:ntly associato.:d
• NIl.' II fi limo]/I with babies who \"ere intrauterine gmwlh rdarded or
E • Na' 132 mmo!!1 small for dales. This diagnosis is made by exclusion
.!!1 • K- 3.8 mmoljl of olho.:r causes and children should never be fasted
o • Urea ('j.B 11111101/1 to make this diagnosis before other Ciluse~ have been
.c
n
tE •
•
CI
Glucose
mmoljl
2.2 mmot/I.
excluded. Treatment is by use of an emergency feeding
plan during episodes of illness ilml prevcntion
of prolonged fitsting, Lise of a glucose polymer is
rhere are a number of abnormalities in thew results
15 and this can sometimes cause some confusion. [his child
encouraged, and when vomiting is present. there
should be eilrly use of intravcnous 10% do.:.\truse with
~ has a rnet<lbulic acidosis. with decreased bicat"bonatc,
g miS'-'l:] ammonia and hypogIYG\cmia. 1\1 this slilge it is
helpful 10 calculate the "nion gap. as the pi [ is low
added electrolytes,

"oc
~
and you do nol know whether this is because the
bicarbonate butTer is salunlled due to reduced biGlf-
.c bonate with increased [ellal or gastrointestinal losses
c (i,e. r{'llal tubular acidosis or gastrointestinal losses
with di<trrhoeil). or whether other unrm:asUfeJ <lnions
are contributing, Albumin is a major anion (bllffcr)
bUl unllH',lsured anions, such (IS lactate, ketones (aceto-
ilcdate, (i-hydroxyhutyr,ue). phosphate, sulphate or
other organic acids. may contribute. 'I he anion gap
can be calculated (IS follows:
Anion gap ::INa']-(IC1-I+IHC03 1l
normally 10-15 mmol/l
:: 132-(92+ 16.2)
:: 23.8 mmolll
In this case there was O1n increased anion gap and
this WilS due to a previously undiagnosed organic
acidaemia. MayJ.'s conditiOIl dC'compensated at this
time of metabolic stress when she had an intercurrent
iI/ness and entered J CillJbolic state.
Q4. What features of this presentation
should make you suspect a potential
inherited metabolic disease?
• Jnappropriatdy ill for history given
• tlnexplained acidosis with increased anion gJp
• Ilypoglyciternia
• Abnormal movements, which may point towards
involvement of the basal ganglia that is frequently
itssociated with IEMs,
Q5. What conditions cause
hypoglycaemia?
Although hypoglycaemia is frequently ,1ssociated with
ID.-I5, it is infnxjul..'ntly tile presenting sign. The following
94 conditions Illily prescllt with hypoglycaemia:
Medium-chain acyl-CoA dehydrogenase
deficiency (MCADD) and other disorders of
fatty acid oxidation
Thes..: arc usually prl-"CeJed by enccphalopathy, and
hypoglycaemiil is a lilte sign of decompensation. l'he
most common disorder in this Woup is MCADD. It
is possible to screen for tllis condition in tile llCOll<ltal
period by either cord blood analysis or blood collected
to measure camitine and acyl-carnitine. Typical abnor-
malities of urine orgJnic acids are also seen Jnd arc
more pronounced during times ofinterrurrent illness
or fasting. ,\1anagement is by emergency feeding
plan, This is a condition with a vcry good outcollle if
managed correctly, but a \'el)' poor OUlcome if missed
;n the presenting phase. Adolescents may present
with Jcute encephalopathy after experimenting with
alcohol.
Glycogen storage disorders
'Ihese can present al allY age but the mOSI cornman
form usually presents within a few months of life
with severe hypoglycaemia, high serUlll Llet.ltC,
urale and palpable liver. Milder variants may presenl
with hypoglycaemia only but hepatomegaly is fairly
llniv('l'saL
Hyperinsulinism and hyperammonaemia
These arc rare llletdbolic causes of hypoglycaemia but
can be rreated easily. l11is is rhe re:lson for measuring
ammoni:l in rhildren during episodes ofhypoglycaernia.
It is due to a defect of the glutamate dchydrogcJlJse
enzyrne.
Multi-organ failure
This causes hypoglycaemia and is associated with
tyrosinacmia, galactosacmid Jlld mitochom'n'ra'1
disorders
Q6. What investigations should be
performed before children are fasted
for diagnostic purposes?
• MctlsurcmCllt of glucose by laboralOry method
d" glucoSf' meler:s .1I'e poor al recording
hypoglycacmia
• Cool.! clinical history and examination
• A,yl-,arniline and Glrniline measurement
• Semm l,letate and uric acid
• Urine for orgililic acid.. and amino acids
• I'rt'- and postpr:lIldial J-hydroxybutyrme tlnd free
fatty acids.
1\ fdsling It'SI is gellerally more useful 10 diagnose
t'ndocrine abnonnalilies. It should be dOlle by profe..·
sionals who are cxpcricnct.,,<1 in performing il and ha\'e
acct.-s:. to it ..peciali;r.£<.! labor:uory
Presentation of dysmorphism
and IEM
Problem-orientated topic:
dysmorphism and progressive
neurological disease (neurodevelopmental
regression)
Laurie, a 4-year-old boy, presents with
a history of global developmental delay
and aggressive challenging boehaviour. His
parents report that he had apparently
normal development and behaviour up until
18 months of age, but they then became
concerned that his developmental progre55
slowed and he even lost 50me 6kllle that he
previously had. His parent6 are double nrst
cousins and they have one other normal child.
On examination Laurie has 60ft dysmorphlc
features with mild coarsening of hie facial
features. He has chronic diarrhoea and has
been diagnosed with Perthes' disease of his
left hip.
Q 1. What features in the history and examination
might suggest an inherited metabolic disease?
Q2. In what types of inherited metabolic diseases
would you expect dysmorphlsm to be present?
Q3. What metabolic studies would you carry oul to
Investigate this child's condition?
Q4. What other features should you look for on
examination?
Q1. What features in the history and
examination might suggest an
inherited metabolic disease?
TI1C history ofa period of normal development followed
by litter on~1 of neurodevelopmental rcw~SiOll or
slowingassociatcd with (,Kia! coarscningldY~lllorphi~m
and skeletal abnormalitiCli should alen you 10 the fael
lhi'lt this boy may hi'lve an inheritcd melabolic Jisca~.
Q2. In what types of inherited metabolic
disease would you expect
dysmorphism to be present?
• ly';oMHnal slQr:.lge disorders
l-tucopolysacdlariJol>l..~
- Mucolipidosc:s
- 'iphingolipidoses
• Peroxisomal disorden.
• Mitochondrial disorder!>
• Abnorm<llities of slerol melabolism.
Q3. What metabolic studies would you
carry out to investigate this young
man's condition?
Often clinicians talk about doing a melabolic MTIXIl,
bm Ihis is nOI useful anI.! the inVt'l>ligalions thaI are
performed llet.xl to be l':\refl1l1y chosen depending on
Ihe most likely diagnosis based on Ihc dinic,)1 pi.llIrt'.
It is Ihus imponant 10 di:>cus:. the mosl appropn.lte
im'csligations wilh your locitllabor.ltory
for Ihis child an iniliallisl of i1wcsligalions mighl
include'
• Urine glycosaminogl}'C<llls: mueopolysaccharidoscs
• llrirw oligos;lcch<lrides: oligosaccharidoS<.~
• WI)' long chain fauy adds (VLCFA): lwroxis{)1l1al
disorders
• MRI br,lin: dislinguish helween grey and white
m;lller disease
• Skeletal survt.')': dysostosis muhiplex
• OphlhdlmolOb'Y review: c1ouding,leheny-red SPOI
• Ileclroretinogram: n>linopalhy
-><
Ul
• Visual evoked potentials: brdin"l~m d}osfunCtion.
Q4. What other features should you look
for on examination?
• Eyes. corneal clouding, GWH,ICI
• Skeletal deforrnily: gibhu .., kyphosis, macroccphdly
• F"J'I' recurrent otitis media, persistent Ila~al
discharge
• Face: puffine~ of eydid.., coarS('ning of fealures,
broad nasal hridge and prominence of brow/tongue 95
 • '!t:':lh: SIll;!l!, widely slMced l{"dh
• Ahdomen umbilical/inguinal hernia and
hepa tospl enOl nc~a Iy.
Peroxisomal disorders
E Although thert' ;m' many varied disord~ in mis group
III
(eg Zellwegcrspecuumdisordcrs).lhey haw wry similar
.8 pr~IlLIl..iOlIS. including dysmorphism (dlaraneristic
tE facie<». psy.holllOlor rt1:Hdation, profound hypotonia!
weakness, intractable seizures. leucodYSlrophy (on MRI),
impainnCl1lS of vision .1Ild hearing ,md hepatOCt':lIul.lf
'0 up.funeuon I hey represent a SpE'drum of dise~c
III from an early onset sc\'ere disorder to milder older-
~
g Ollsct disc,IS<.'_
"c
~
Lysosomal storage disorders
.8c Broadly speaking. this group of disorders prest:nls wilh
a number of )illlil.1T fe,lIure;, illthough they may vary
slightly for ea("h individual group~
• Severe hyperactivity and poor slC'Cping pattern
• S"c1Ct.ll ,lbnonn"litil..'S; gibbu:Io and kyphosis
• fkcurrenl hcrnias
• Gargoylism or dysmorphic dwarfism (skelelaJ
dysplasid)
• Increasing Iwp:uosplenomegaly
• Cingl\>.ll hypenrophy
• DCRcncr.ltivc disease of Ihe cenlralllcr'.'Ous :Iol'stem
• c.louding of IIw cornea
• Changes in retinoll pigmentation
Mucopolysaccharidoses
Mllcopolysaccholridoses :He caused by a deficicncy of
lySOSOI11,11 ellzytllC:'> that degrade glycusarninoglycans,
with a variable degree of progressive mental and physi-
GIl delerioration, Ihe clinical fe"tures of these individual
conditions vMy depcnding Ull the norrll(ll raIl" of
1C11/,yrmllic :-Irlivity within each tissue. All are inherited
in an aliiOSOm:i1 recessive manner. except Hunter's
syndrome, which is X-linked.
Oligosaccharidoses
The~e re«('mllle the mucopolysaccharidoses but are less
common and the age of presentation tends to be earlier.
Main featurLos <lrc skcleL.1 dyspla:'>ia, dcvdopmel1lal
dday, eoaN,' f"ci.ll features and progressive neuro-
logical deterioration, Lxamples arc fucosidosis, alpha-
mannosidosis and Si'llidmis.
Sphingolipidoses
Sphingolipids arc present throul/.houl the body bUI
96 arc p<l.rticularly import,tIlt in nervous tissue, where
they <lre components of myelin sheaths. Abnormal
sphingolipids frequcntly d(cumulatc in the rt:ticulo-
cndothdi;ll sy"telll 'I hey itre commonly diagnosed
dft~r an incidem,ll finding of an enlarged liver or
spleen. Lxamples ;lIe G,lUchcr'~ dbc.lse, rabry's di~a~
and Niemann-Pick tYI)C A and II Others present with
sewre d~'dopmenloll regression a Icucodystrophy
picture and chert)' red spot of retina.
Mucolipidoses
111(:sc ha\'e a cOlllbin<ltiOll of f"dlllrt:'S of the mucopoly-
S<lccharidose'i and 'iphinsolipidoses
Lipidoses (e_g. Niemann-Pick type C)
111e Iipidrn.es or lysosomal lipid storage discilSi.'S 3fe a
diwrsc woup of condiliom thai lead to accumulation
of the enzyme's SUbSlTale. Presentation is either as
neonatal cbolestaSis. as splenomcg.lIy or with ataxia
and vcnic.llj;Xle palsy.
Mitochondrial respiratory chain disorders
Mitochondrial disordcr~ {"dn also present in a wry non-
slJt---cihC manru'r afft:'Cling any orga-n in the body. 'Ihc
classical c1imeal piCture is off;,ilurc to thrive, assoriall."I:!
\-..;th renal tubular leak or spt.'Cifk mnstdl<1lions thai give
raise to the namrs; e.g. MI:I..AS - myoclonic ",ilepsy,
laclic acidosis and stroke-like episodes, or MERRF -
myoclonic epilepsy and ragged red fibres.
Specific disorders
There are many Ib\'ls Ihal present ill childhood,
most of which arc very rare. Only the more dilssical
disorders are di~{"usscd here.
More information about some othcrs (Box ~4.4)
is available on the ,\.1aslfCICourse website.
BOX 34.4 Specific disorders discussed on the
MasterCourse website
• PropioniC, melhylmaJonic and isovaleric
acidaemias
• Homocystinuna
• Glutaric aCiduria type 1
• Urea cycle disorders
• Glycogen storage disorders
• Porphynas
• Wilson's disease
Phenylketonuria
Ihi.. I'> a disorder of amino acid met.lbolism where
deficiency of the phenylalanine hydroxylasc cllLyme
cause> d dcflCicllC)' of t~Tosinc and an increase in
phE'n)~alalllne. Its incidence is l:lQ 000-20 000. Persist-
enllyelf\.''ilted levels of phenylalanine arc associatl'(j with
microceph.aly and mental retardation. Acule i':lf'\.uions
all' 1101 signifK-a1ll dnd no special pm:.lulions aff' nerooo
durin~ illness or surgery.
Presentation
I'resentalion IS nannal at birth and the condition
should be di,lp,noS<'d from scrcelling:
• Mc;mm.:J1l1'1ll of phenylalanine (rOIll blood
collected \\'I\hin the first 10 days of life is part of
UK screening programme.
• C]lildl'Cll .lrrivi ng from Qt her parl~ ()f lhe world
may nOl h:we been screened and may presem
with developmental delay. cocma and
microccplt'lly.
Diagnosis
• 111crc i~ an e1evatt::d level of phenylalanine but
de{Teased tyrosine_
• Biopterin metabolism is normal.
• Enzyllie "cth.·ity call be mea~ured frOIll liver
tissue hut is hardly ever justified.
• ,\lutal1onal analysis is possible but expensive and
is unlikcl)' to influence managemellt.
Management
• Phcnylalaninc-rcsuicted diet
• SuppknH'1l1illion oflyrosine and olher
essential amino acids with special protein
subslitules
• MOllilOrillg blood levels and checkil1!!, for
nUlrition.11 deficiencies
• Avoidance of aspaname-coulaining fuuds
• PrcgllilllC)' CUllnscil ing for ildolescenls, as control
needs 10 be much tighter during pregnancy.
Uncontrolled phenylalanine levels ill prt.,);lldllCY
<iTe associated with it high incidence offetal
abnormalitIes
The organic acidurias
The organic acidacmias arc a group of conditions
arising from defects in the breakdonn of amino acids
funher down thE' pathway from that seen in maple
syrup urine disease '!bey include:
• I'ropiollic dCidaemia
• \1elhylmalonic acidaemia
• ISov.llcric acidaemia (rarer than the lWO above).
AlIlhret" conditions presenl ;lnd are broadly managed
in similar ways.
Presentation
Children art' normal at binh but usually present in the
firM wt'ek with:
• Acute encephalopathy
• Marked melabolic acidosis' raised laCtate
• Ilyper.lmmonaemia (organic acids inhibit urea
cycle)
• Dehydration/shock
• Ilone marrow suppression: Ileutropenia,
thrombocylopenia
• SWeal}' odollT (isovaleric acidaemia)
• Neurological complications; mctabolic :.lrok,',
basal Aanglid illvolvemelll
• CardiornyojJ:lthy (propionic acidaemi,,)
• 1':'lrlCrealitis
TIl..::.c disorders :'Ire triggered by .;cpsi<;, fasling or
surgery.
Diagnosis
• Marked mctabolic acidosis with "etosi<;
• IIHwrammonaemi.l
• Urinary organic acid p.lttcrn is usual!) di,lgnostic
and supported by acyl-carnitinE' profile
• Confirmalion by enzyme analysis on fibroblaslS.
Management
• Acute management is as described abovc. including
stopping protein fttds and using Im'o dcxtro~e 10
prevellt c,llabolism.
• Correct dehydr:uion with intravenous fluids.
• CorreCt acidosis with sodium bicarburl<lle.
• Remove dlllllloniil; may need dialysis.
• Remon: organic acids:
Crtmitine for propionic and mClhyllllillonk
acid,IClni<\
en
-
Glycine for i:,ovilleric acidaemia.
• .\letronidazole reduccs gut bach::ri,ll produclion of
propiollic .lcid (for propionic and Ilwlhylmalonic
acidaernia).
• Co-faClOr supplementation (biotin ror propionic
><
acidacmia and vilamin Bl2 for lllclhyimilionic
acidilcmia); sollle variants may be due 10 co-faCtor
deficiE'ncy alone.
• Long-term treatment im'olves low-protcin dit'!
with long-tcrm oral bicarbonate, caminne,
mcuollldazole and co-fanor. if needed.
Lactic acidosis
Lanic acid i<; produced by the anaerobic rt'spiralOry
pathways and can be raised in twO geller,ll siluations. 97
 Table 34,3 Conditions in which raised lactate is seen
Condition Defect examples
Hypoxia Increased pyruvate proouction Poor perfusion, systemic disoaso, cardiac dlsoose

34 Impaired glucose production Increased pyruvate proouctoo Glycogen storage disease I, hereditary lructose inlolerance
Impairod NADH motabolism Mitochondrial disorders 01 ek:ctron transport chain

E Impaired pyruvate breakdown Pyruvate dehydrOQOl1ase dolidoncy py"/Vilte caflX!xylase

Ul deficiency. biotinLdase delidoncy

~a;
Impaired acetyl-GoA production Impaired pyruvate breakdown Fatly acid oXidation disorder~

Other Organic acidaemias

E
'0 I{y far Ihe moSI common of these (Iype A) is in SUites !...lCtate is formed from the reduction of pyruvdte,

l'! of (issue hypoxia that can arise from shock cardiac Therefore a raised J<lct<lte ran Ill: s,:en in the condil\on~
g
Q)
failure or other org,m failure or from Se\'\:'n:: disease, A
raised lartate is also seen in some metabolic conditions.
li~l.ed in Table 34.3,

C
~

.8c

98
 Malcolm Levene Neela Shabde Martin Samuels

37 Child abuse and neglect:

the hospital perspective
Learning outcomes 136
Introduction 136
Role of the paediatrician 137
Importance of awareness of abuse 138
Children at risk of abuse 138
Legal aspects and rights of the child 139
Reporting of child protection concems 139
Critical threshold 140
Child protection register 141
Inter-agency working/working together 141
Confidentiality 142
Civil and criminal proceedings 142
Physical abuse 143
Child sexual abuse 147

.- •
By the end of this chapter you should:
• Know and understand the role and responsibilities of the paediatrician in
recognizing and managing abuse and neglect
• Know and understand the importance of awareness of abuse and neglect
U) • Know and understand which children and families are most of risk of abuse and
_ neglect
>< • Know and understand the legal aspects and the rights of the child
• Understand multi-agency working and confidentiality
• Know and understand the diagnosis of physical and child sexual abuse and
appreciate that a multi-agency approach is essential
• Know and understand the importance of discharging the child to a safe place.

IH(kr 10 he able 10 fulill this function. This chapter

Introduction de~mh..s the basis of child protection from the
I'rOleCling children frum illl~'llliolltit hMm is the role point of view of a trainee in paediatrics and Chapter
JIIlI dut)' of every paediatrtcian I here is a basic level 21 describe:> this frolll a primary C.He do<:tor s
136 of knowledge that all such doctors must possess in perspective.
Table 37.1 Types 01 iIIlreatment and examples
Form 01 abuse Example
f'h)osiCai aoJSe F~. bums. cerebral WId abdorTWlaI
I~S
lkll;...;ful sellUill int~ Wgger)
partq:ral on n porn~ media
Demera., ng Cf1tlca and lJ"b,ong.::_=~~=.-
"""""""'" ,-e.
Fat.xe to !tor 1lVs!Jed healhca'e 8f'd'Qf
educa:iofla opportlSlll es
&'lIocatlOn, pOISo"19 ("laPp'apr d:e
I'1terterence.·, th 1codir19 tubt.'s and
ntr(l'Je1'lOUS ~
Fabrica,ed loess Falsitylllg histories, 6llaggarating hal'ldcap.
(01.21) inleriemg wi'tl tests
111€ basic principles involw'd in child protection
arc:
• Rt'fOgnilion Oflht:: problem
• Reponing the doctors suspicions
• 11Ivcstigdtioll and management of the problem.
Ih~ two chapters g1w an overview of child prOlec-
lion. but in Britain it is a requirement that all paooiatric
uainel'S undergo a formal child protl."<"tion t."(]ucat;onal
programmt' for doctors, including a training day
dl'Veloped by the 1kr}-aI College of Paediatrics and Child
lIea.lth (RCPCII) in coniunction with the 1 ational
Society for Prt.,,\-enlion of Cruehy to Children (f\;SI'CC)
and the Advanced I ife Support Croup (AISC). 'R«og-
nition ,lOd Response in Child PrOlcction - an
EduC.ltioll Programme for Doctor~ in Training' will be
delivered hy AL<"C Ihese chapters are not intended as
a substitute for this training but givc an overview and
precis of m'lledal that is available on Ihis cour~e,
(hild ,lbul'oe can be defined under six categories.
which arc nOt mutu.1JJy cxclusive and oftcn form d
5~)t.:clrUI11 of ,lhu~c (1:1hk 37.1). A crlild Mlfft:ring olle
form of abuse is often subjected to other forms as
well
"",,111)' of Ihese forms of mallrealllWlll l)Te~cnt to
healthcare providers in either primary or secondary
care, usually in the form of apparently accidental injury
or gClluinc iIIne:». 111e health profcssioll<ll ha~ Ihe
opportunity 10 recognize th~ forms of mahreatmeOl,
and in SO doing. will haw to documem why maltreat-
ment explains the child's condition. ·nlis may need
funher ill\"eStig;l.Iion and the opinions of alher
medic.ll Speci.lhies, e.g. in radiology, orthop,ledics or
neurosUl'gcry. It is imponant to notc that a child with
chronic illness or disabilily can also be ~ubiected to
fabricated and induced illness so mcre is a need for
dWMClll..'S:> dnd recognition ofthi::; furm of 'lbu:.c.
Child ahlN' is commonly considered to result
fmm ;t p;tltem of behaviour by an adult that is apan
from other human behaviour. Whibt thc mD:>1 ~evere
abuse rcsults from behaviour that is dearly abnormal
(cigaretle burns, sadistic beatings, sexual abuse and
physic.l! isolation), there is some bch.lViour \\here
the defUliuoll of abuse is dependent on the alhure in
which it ()('cuJ's. '1111" whole range of mallTeatment of
children, therefore, is best considered pdU of d ~I)('arum
of behaviour ranging from thai 'Which is often pan of
normal behaviour (the 'rdlex' sm.1Ck, frustrated agwessh-c
shout or derog.ilOl')' remark; conscious 'discipliudl)1 ans
.1CceptOO in SOUle societies) through to very disturbed
panern~ of behaviour that result in conscious s.ldistic
.lClS by an aduh
Role of the paediatrician
Pal.:dialrici,lIlS arc 'WI expt::cled to de:tl with the
maltre:tl1nelll of children and young po.:opk 'llono.:;
their rolc is 10 recogllizo.: and report when <Ihllst: may be
occurring in lhe m,llly different clinical present.lIions
and 10 assist St<HUlOI')' agencies in the illvc~tig.i1ion
of possible significant harm to a child 'nlis would
induJc est'lblil'ohing the likelihood of non intemional
injUry or organic dIsease ....ersus deliberate harm 10 the
child. Such distinction is not oftcn easy or possihle, :l.~
some childrell wilh chronic diwil"t' ur di...lhl1;ty may
also be subjected to child abuse and neglect; indeed,
reSt'drch confirms th.lt they are at increased risk. 1111"
paediatrician therefore must liai~ with thl.: Slatut0l')'
agencie~ for child prmection. It i~ lhe stallllol')' agen-
ci~, indlldlllg social services, the NSPCC .1Ild the
police, th.lt havc a legal responsibilily for protecling
childrcn and inw<;til::,Iting child proleClion concerns.
Currenl government guidance and 1.1\\1 (Children Act
1989) in the UK place~ profl.:ssional rl.:splll1<;ibililY 011
ht:alth profc~~ioll"ls 10 recogllize and rt'spond 10 child
proleclion conct'rns :tnd work within :til inler ,lgency
framC\\lork (colleagues), coopndtill);\ wilh stalutory
agl.:llcies ill the be<;l inlcreSI of I he child. P:tedialficians
usually refer to socbl services in keeping with the local
procedures .lnd protocols.
11105 the key ta"ks of the paedidtrician are to:
• "lake a delailed history and perfoon a full physic.!1
-><
tn
examination
• Document the findings aecuml.::ly and legibly in
lhe medical r«ords
• Consider whether child protectiun COllCCfIlS
exist'
• Check the child's name against the Child
l:>roteetion Itcgisler (this will di:!>apIXdT in name
with the new working logclher arrdngelllellls):
also, to check whelher the child is the subject of
a child prOteCtion plan (held by the 10<<11 social
serviccs or Ihe NSPCq 137
 • CommuniCilte with other professionals who have
seen the child
• (J nJertakc further mcJicill investigation or obtain
specialist opinion, where appropriate
• Decide on the likelihood of accidental versus non-
accidentdl injury, or organic versus non-organic
illness·
• Report any child protection concerns to the
statutoJy dgcncics for child protection, both
verbally and in writing
• Carefully and contemporaneously document what
actions are being taken, including discussions with
social services/police <lnd the pl<tn <lrising from
these
• Explain illly ftndings and concerns to the pau:'ttts
(unless to do so would incre<lse the risk to the
child) Parents should be shown respect.·
(. ·nlCSC ta~ks should be underLlkel1 in consultation
with Sl:'niorcolkilgucs, including thl:' named or designated
doctor or nurse for child protection.)
111(' itl\Tstigation <ltld management of a case of
maltreatment of a child must be ilpproached in the
S,lme systematic and rigorous manner as would be
<lppropri;nc to the investig<ltion and manilgement of
any other pOlentiillly filtill disease (ilS suggested by Lord
Laming in the Victoria Climbie inquiry). When a child
is admilled to hospital, a clear ut.'dsion must always
be made <lnd documented ilS to which consultant is
responsible for the child protection aspects of the
child's care. The child must /101 be dischJrged from
hospitill until child protection conct:[ns have been
resolved.
Importance of awareness of
abuse
in ca~es where professionills who deal with children
know of or suspect abuse there is the opportunity
for intervention, including either family support or
prolection of the child by remO\'al from home, but only
if this is reported to child protection agencies, Failure
to report concerns or knowledge of Ill<lltre<ltmcnt Ciln
have substalltiallong-term consequences for the child,
who may remain the victim of abuse,
The long·tcrm effects of child abuse and neglect
include:
• [lIlotiOllal ilrlrlll, e,g low self-esteem, depression,
unresolved anger and aggression, anorl:'xi<l, sdf-
harm and suicide
• PilrsiCtllll,nlll, e.g. brain injut)', Org,lll damage,
deformities, scars (e.g. burns) and handicap
• Ldlicarimlll/ pro/.JICU1S, e.g, learning difficulties, f<liled
138 schooling, employment difficulTies
BOX 37.1 Examples of severe or life-threatening
, child abuse
Direct
• Asphyxia or suHocation
• Non-accidental head injury
• Poisoning and other induced illness. e.g.
septicaemia
• Abdominal injury
• Spinal injury, including cervical spine
• Rib cage and long bone fractures
• Drowning
• Burns
Indirect
• Sexual abuse
• Severe emotional abuse (through later deliberate
self-harm or other suicidal acts)
• Neglect, e.g. accidents. lack of supervision,
severe untreated infections, malnutrition, severe
anaemia (secondary to scratching from head lice)
• Social lUld reil/liN1SIJip dijJiwflie5, e.g. family
violence, promiscuity and proSlilLl1ioll, drug ilnd
alcohol abuse, parenting difficulties.
Each year, substantial llull1bus of childrt:n suffer
long-term morbidity or death (50-100 C<lM"S per yt::dT)
as a result of maltreatment. In lilrge numoers of these
cases, earlier detection and intervention Gill avoid
lhe serious consequences of abuse. Some of the most
serious abusive injuries, including those that are Iife-
threatening. arc listed in Box 37.1.
Children at risk of abuse
Following <lny childhood injmy, it is important to
consider the circumstances of the injut)' and to oblJin
a clear history of what is Jllcgecl to have happened.
If all explilnation is ilbsen!, inconsistent or otherwise
ullsatisf<lClory, then the possibility of maltreatment
must be considered, The Sdme dpplies to illness that
persistently defies exrlanat ion or is 110t consistent with
usual medic<ll experience. Child abuse/maltreatment
occurs in all social classes, JJowever. features that are
knowll to occur more frequently in families who <lbust:'
lheir children. in comparison to f.lmilies who do not.
include:
• Where the relationship between the parent and
child does not appeilr loving and caring
• Where one or both parents have been abused
themselves as children
• Parents who are young, single, unsupported or
substitutive
• PMCllt~ with It'ami ng difficuh ies
• Parents who have a poor or unstable relationship
• Situations where there is dO/lH.'SLic violence. or
drug or .Ikohol dcpendcnce/misw!of'
• I'drl'nlS who haw mental illness or perwnality
disorders
• Situ.ltiollS oll>ovcrty and deprivalioll, ahhough
mOSI l)()Or famil it'S do not abuse their children.
Factors in the child tlMt arc associat...'<1 with vul-
nerdbilil)' to ahust" and negloo include'
• I'rematunty and/or separation in the neonatal
period
• Chronic illn('''~, \\ilh frcque1ll or prolonged
hospitali7~llions
• Physical or mental handicap
• roor IlldlcrlMI (llIilchrnenr
• Ikh,lVinlirill problems, e.g. soiling and wetting,
challenging behaviour and hyperaclivily
• Difri,ult tClllperamelll
• ~creaming. ..-ying interminably and inconsolably
• looked after children, i.e. those in llle Cdre of the
locJ.l.luthority.
The abow may retlect both an incre.lSed suscep-
tibility to dnd a consequenCt: of mdltre.lllnent, but
their procl1ct' d<x'S not me<ln <lhu'i(' has occurred
Children in all circumstances m.1Y be subiected to
abuse and ha\"t' a right to be protected from it.
Legal aspects and rights of
the child
Child protection in Britdin is guided by a legal frame-
work sct OUI in Ihe Children A('I (1')8')). I1l1'~ new
Children An (200..1) incorporates principles within
the United Niltions ConvcllIion on the Rights uf
tht: Child <llld the European C:onwl1liol1 Oll Iltlman
Hights childrt'll ,ITt' protected from abuse and neglect by
mUlti-agency working and by bolh voluntary and k>gal
illlcrvclltiOlI.llle new an alsoemphasi,w~lhe promotion
of childrt;>n·s welfare and their prolection from abuse
and neJ;lect, Ine Department ofl [eallh (1999) and IK'W
h'orking Togdho.:r (2006) document, '\'\-'orking Together
10 5.1fl.-,£uard Children', incorpoT3tt'S all the legislation
and sets out principles fOf professionals working with
children. The main leaturl.-'S arc as follo\\--"5:
• TIlt' wdf;u{" of children is paramount
• (hildren must be listened to
• Children should h,!\'{' the righl to grow lip within
Iheir families in an environment thai promotes
thelT he.1lth .lOd s.lfety.
• Look al the child and family ralher than Ihe injury
• D....s('rilw$ role'\' and responsibilities of dIfferent
agencies and practitioners
• Places child protection procedure::. within tile
remit of a 10Cdi Area Child ProteCtion Comminee
(t\CI'C) - 10 be replaced by Local Safegu.uding
Children Hoards (LSCB; emphasis on :!Iafq,;u.,rding)
- which dcscrilx'5 inler-<lgenry working,
• Desaibcs processes 10 be followed when there arc
concerns about a child and actions to be taken
to safeguard and promote lhe welf.1Tf' of children
suffering, or ill risk of suffering. Significant hann.
• [Jrovides gUidance on child protection for
'looked after' children who ilrc in care of tile local
i1uthorilY·
'111e United :-"ations Conw::nlioll on Iho.: Righl~ of
the Child ( 1989) prtlVides <1n illl,-°rrUI ion.llly ~ccepled
sct of principles and standards to ensure that children
everywhere without discrimin•.llion - h,l\'(' rlw
rijl,ht 10 sUlviv.tl, tu develop to Ihe flllk.,t; to prolertion
from humflll influences, abuse and exploitation, and
10 participale fully in f,lmily, cullur.ll ,1I1d so<ial lift'
The rights dpply to the practke of childrt'n's hl.'"hhc~re
for all children and young people lip to the .1RC of 18
years. All bm twO countries in the world (1IS,\ olr1(1
Somdlia) hJ..e latifieu the C:on..elllion
Arlicle l "r(wides thai any decision or .10ion
dffeeling children eilher as individuals or a:!l a KTOUP
should be tJken wilh 'their best ill1o.:R'5( (I~ Illl' mmt
importanl comidcT3tion.
Ankle') holds that children haw ,1 riF,ht not to be
separated from their pJrcnts or caeers unk..., il is judged
to be in the child's IX'51 interesl
Article 12 places an obligation on he.llth protcssioll.lb
to seek a child's opinion before taking (It-cisions tIm
affed. her or hi~ future,
!\nicle I') slates that legislative. ,ldministrdlivo.:,
social and CdUC,llioll.l1 meilsures should hl' I,Ikel! 10
proll:ct children fmm all forms of physical or menlJl
violence. injul)' or abme, negieci or negligenl trC<l!melll,
maltreatment or exploitiltion, illdudillg S{'XII,II "hll<;e,
while ill the CtlrC of pllrcnt(s), legal guardian(s) or any
U)
-><
other person who h"" the care of Ihe child.
Article 37 st.ltes that no child shall be sllbjcCled 10
torture or other crud, inhuman or degrading lreatment
or punishment
Reporting of child protection
concerns
An)' person who has know[edAe or a suspicion thai
a child is suffering significanl harm, or is at risk of
significdlll h,lTIll, ~hould refer that concern to one
or more of the agencies with St.ltutory duties and/or
powers to investigate and intefvClle. the social servin'"
departmcllt, the police or the 'l~I'CL All referrals 139
 to Sl,l1l1tory ,Iuthorilies afe taken seriollsly (lnd
BOX 37.2 The child at risk of significant harm
considered WiTh an open mind. Professionals should
be .lblc to refer to child protection agencies in good The Children Act 1989 (together with Children Act
2004) introduced the concept of 'SIgnificant harm'
f,lith without fCM tIT,1I thi:-. will lead to uncoordimllcd
as the legal threshold for compulsory intervention in
and/or prt'lliature anion or any adverse consequences
child protection cases. Where social services have
to themselves
reasonable cause to suspect that 8 child is suffering

:g"
> At prl.:scnt, thcre b no mandatory requiremenl or is Iikety to suffer significant harm. they are under
for health,art' prnfe...~i()llals in The UK 10 repan a duty to Investigate the claIm. Furthermore, courts
suspICions of child malueatmCnl to the Sl.llUlory
"f!
0- agcncies. Ilow\.."'I'cr, there is d profosional duly to do
~o; th~ (,t'ner,ll \It'<lical COllncil (CMC) good medical
can only make a care or sUperviSIOfT order if they are
satlsfted that
• The ch Id is suffering, Of is likely to suffer,
"
0- practice guidelines stipulate Ihal patients mUSI be able SIgnificant harm. and

-'"
iii
'0.
o
to trust doctors with their lives and wellbeing. In the
praCllct' of pao!diatrics. this applit'S to infants, children
and young people up to age 18 years. Paediatricians
must nuke the carl' of their patient their first concern.
• The harm Of I kelihood of harm is attnbutable to a
lack of adequate parental care or control,
There are no absolute cnterl8 by which
signIficant harm can be judged: decisions take into
L:

-
Ql
L:

t
'Ill£' C\lC stipulatC':
If }'Oll bdl.'~'e /1 polfleml.. be fl
M'XlIdll1T
vit.rilll of neg/ar or phPICdl-
.'III",i0l1<l1 lIbuse 1"'.1 11"" Ihe p..Itiem emmol gill"
or u!jlhlUlM Cilrrsrnl fO dis.-ll'sllfe, l'llU "11m gil'!'! infomltllirm
conSIderatIon the effect of any ill treatment OfT the
child's overall physical and psychological health and
development The Children Act 1989 introduced the
concept of sign,flCant harm as the threshold that

"
lJl
prompl/" Ii}.m "P/'I,'pnflle lope,lS/hle pawn oJr SWIllLOty
llg,'nfr wher.' rOil l,t/itl'(' 1110/[ ,11(" I/isdosurr is in tile
justifies compulsory intervention in famIly hfe in the
best Inleresls of children, and gives local authorities

"c
'0
p<11iem's best Imeresl. If, for an,- re(lSOn, }'i'U be/lei'" IlIar
dix/Q.)[jTf' 01 inf(·nttdlioPI b IIQ[ III IIle be~1 inlffesl of (III
a duty to make enqUines to decide whether they
should take actiOfT to safeguard or promote the

a "bl/~e.1 ,'r nl'gll'ell'll p.llil'Pl/, }'I'.lll "'t/</ disnw lhl' WIles

1I'Itil 0111 exp.."Tli'PlLi.'ll WIl"'lgllt' If }'i1U flRcide nOllO disclose
welfare of a child who IS suffering or IS likely to suffer
signifICant harm.

"'"
D
:>
illlonllfliion, ,\'I'.lll mllSI bi.' prt>p.m.'(! fO jllS/ifr fOllr decisioll_

\'~11ilst :my health pTofe~iollal may Tepan COl1cerm,or

ctl
<;u<;piciom ofchild abuse to the statutoI)' child protection
31 agencies, lllorccommonly g~neral practitioner::., commu·
L:
() nit}' nursi ng st~rr .lllt! dodors in acdd~llI and emergency
depanmems choose in the fiTS! place 10 refer sum
CJS<..'S to p,ledi"trici,llls (either community or hospital-
b"seJ l)(lcdi"rridan~). III lhe~e cirCUmSI<lllCeS, it is
the consllltam I"aediatrician who will then decide
whelher or nOllO refer" child to til(' statutory agencj<-~.
NCl,lcrtlwkss, Ihe CiviC recogni..:cs Ihat 'health care is
incre,1singly provided by multi-disciplinal)' teams' and
if ""11 1!lIIIgrl'I' II'III! )'tlllr Iemll', (Iecisloll, )'011 may be able 10
pt'1"S/IIII/e ullw/' /elllll lIle/ll/)('I"S 10 dIlUl.~1: !lldr mmds. If nm.
mill 1"'11 IJe/i("I'i' Ih,lI IiiI' Ik.-isioll 1l'l'lIld Iwrm Ihl' plllif'IJI,
1",1I'(iIlIl"-'llI' u'll() filiI illite Ildilll!. If !III._"TI' lire dIfficulties
Vf diSlIX(j·j·m.'IlI) llUout if Imtlldll:ll w refer a duM. Ihen
discussi'N! will! 'I ,1111'1(",1 (If !l1'$igll,'Ii"j !lOCUlf Of rwrse is
./WIl.":!;' mlt'l:;ed.
Critical threshold
Professionals need to be aware of the manifestations
of lIldhreallllcnt ur ,lbu1>1:: to ensure children are
prolectt'd from harm Ilowe,~r, the detection of abuse
is somelimes far from simple and requires the building
up of d jigs,lw oi information; some of tbe picrcs may
1411 be from a llllxlic<l1 <I'lSessnU'1lI (history, examin';lIion,
BOX 37.3 The child in need
A child should be taken to be in need if he/she
is unlikely to achieve or maintain, or to have
the opportunity of achieving or maIntaIning, a
reasonable standard of health or development
Without the prOVision of services by a local authority,
or his/her health or development is likely to be
significantly impaired or further impaired without the
provision of such services, or he/she is disabled,
A child in need who is not receiving services may
be at risk of significant harm.
inveslig,lliom, 'Iubspecialty opinions) ,lnd some from
information from olher profcs~i()nals or agencies
Sometimes the criticl! informalion - for example, <I
parent's !>:bt hi'ltory of abusing a child - is held by
(he S1<1I11101')' agency and f,lillln:: to share information
with that agency may delay protection of tht" child
The clinician must make a decision when to liaise or
refer 10 the statutory agencies. ll1is j~ u~uillly when till.'
case ha~ re,lClled the 'critical threshold' (I~oxes 372
and 37.3).
t he 'critical Ihreshold' is the poillt where the
profe~iolldl's COnCCfll'l tlMt the child may be: be:ing
harml-d cannOt be: :-..<uisfaaorily resolved Ccnainly in
somE' ClseS it may full shon of clinical certainty or mn-
fimlation of diagnosis. The professional will be assiSltc"l1
by dbcu::.sion willi others. incllldillg a design;uoo
or nilmt'(1 doC1or or nurse. J'his cmical threshold is
the point when concr015 nE't'd to be referred to th£>
S(.ltuIO/)' iluthoriti£>s for dlilJ prote{"\ioll. Sometimes
Ihi~ criticalthrt'shold may be immediately apparent,
e g. an infant who has suffered a skull fractur£>
ilnd intracranial haemorrhage without adequate
C.Xpl:UMliull. In other circumstance", a combin;uion
of h...lory ,lnd non-specific signs suggests that there
may be ,1 problem. If there is any doubt ..tbout whether
lO report, cOrlsuh:uion with a M'lllor colleague or
the n,lnled/designated doctor for child protection is
recommended. As a rule, if ill doubl ..tftel" ilpprupri;lte
disrmsion ill1(1 con~ult;ltion, il is helter for a report
to Ill' made to social services so that an assessment of
the child and family call be made, This may klcmify
that the child either is 'al risk' of significant harm,
or may "lIll he 'in need of services'. 130lh approaches
should Jllow for the institution of ,lppropriiltc family
support ,md/or prutcnioll for the child and other
measure":ls considered .:lppropriale.
Child protection register
l'his is soon to be replaced b}' a lisl of children who
arc subject to a child protection plan. In earh area
covered hy a sOC"ial M'rvices department, a cenlral
register is kept listing all the children in Ihe area
who han.' becn abused or \\ho are (,ollsidered to be
31 fisk of ahu'Ie and are therefore the subject of an
inteT-.:tgency plan to protect thelll. The r~ister i"
morc cOllcerned \..Jth the future prolection of the
child rather than past abuse. Children in the UK are
placed on the Child Protection Register ill une of four
cJlq~orics, ncKleCI. physical abuse, scxlIdl abuse or
('lIIolioll,11 ,lhtl~e.
I'tw decision for a child's name to be entered on
to the Child Prott..><:tion Register llSll<llly follows the
"haring of lllforrn;llion and discussion at a Child
Protection Conference, and where all inter-agency
agrt..oclilclII is made to work coopcratiwly with the
f,unily 10 prott'f"t the child Similarly. a Child PrOleetion
C.onference is required normally to m.:tke the decision
to remo\'e a child's name from the Child Prott."Ction
Regisler. 'J1lt~ legi!>ter prO\'ides a celllrni pomt of speedy
enquiry for professional staff who arc worried about a
child .md want 10 know ..... hether the child i!> alread~
the "ullien of an inter-agency prott'<110n plan l'he
Child PrOI(>(lion Register is maintained by social
services dcpanments and Gin be i!('("('Sscd by any
hcallh prof£"ssional who has concems "holll a child. It
is imponantto nOlO' \"hether a child is the subject of a
child protection plan.
Inter-agency workingl
working together
Child prtJlt:nion mostly im'olws worl..ins; in panner-
ship with the family and "ilh professionals from
other agencies. Wim regard to the fonner, there are
some essential Ilrinciples Ihat the c1inici.1n should be
aware of
• Tre.1t ,111 family members as yOIl \\,()llld wish to be
treated - wilh dignity and respect.
• [nsure family members know thai the dlikl'!>
5.,fety and welfare musl be givl;'n fiNt priority
• Be dcar with yourself and family members about
lhe purpo<;e of your professional involvcmcnt.
• Listen to the concerns of the dlild and his or her
r'\I11ily.
• l!i:'speCl ronfiderlliality.
• 13e open and honest about your COlln'fI1~ ,md
rcsrx)ll~ibil ilies.
• Take care to distinguish between your profc~iOlMI
role .1Ild rcsponsibilitiL'S and your pd"onal
fedings, v<llues, prejudices and Iwliefs,
It is not ,llw,I}"S po~ible 10 worl.. in pannerl:hlp with
part'tllS. In theM' circumstances, the best you Gill do
is 10 keep Ihe p.ucntS informed \\hils! 1iai~il1g "'jth
senior colleaio;ut."S and the stalut0f)' authoritIes. If Iher...
is an immediate danger to the child's life, the police
should Dc C.:llted.
ItHer·agenc:y working demand!> that agenrie.. and
prof~sionab:
• Share information
• Colldborate and understand each other's po"llion
• \<\'ork in pannership with each other and children
:lnd their f.lrnilies 10 plan comprehell!>ivc <l11l!
coordinJteJ sClviccs
• Recognil.c those most vulnerahle children and
coordinate services from various apPl'OprLllc
agencies, including the \'ohmtary M'('tor
• \"'ork with dd\lh services, panicularly mental
health
• Panicipatc ill joint working to ""fegll'lfd children
and wlwn' necessary 10 help bring to iustice the
pe~1fators of crime against children
-><
Ul
Allimsts should have a named doctor and .11lilmeU
nurw for child prolection who tdl..C ,. prof(";Sional
ICdd within the trt...t on child protection matters.
Their responsibilities include education, support and
supef\ision I:..1ch local area must have a designatl'd
doctor and 11l1tW for child protection who \\'ork do~ly
with the named professionals in supportin~ activities
within tmsts
HcalLlI profes,~ionals are eXpedtxl10 \mrk III panner-
ship with l()('al authorities following government F,uidc- 141
 lim.'::! identifying cleM rolc:. .IllJ responsibilities for
n)l111ll1... "i(1II~n.
,md provider> within the h~alth s~rvin~
Confidentiality
Issues around confidentiality oflen .1ppear to be more
pMellt and child as a single unit In lhis sima lion, it is
the moral duly of Ihe doctor to aet in Ihe best interest
of the child.
Departmenl of Heallh be..t praclice guidance ("lay
2001) st:ltes'
A llalSion lI!hl.'lhl'T 10 JudMf' ill{.:>nnarioPl nlll)' ilt"

i~
complicatt.>d in dlild protection tlMn in other areas,
InH it should always be recogni7eJ that the needs and
the welf,ue of the child Me paramount. Key issues
""r/lnllm I) tfiffi, 1111 if }'VII !lwI/.: II ma)' ,l.ml.I,I:C II", !11.lS1
~iII''t'Jl ,'VII and }tl!lr pmient or elknl. WIleTl'I'n" 1,,-,ssible-
)'i'1/ shl'u~1 e.Wlam lhe tm>loli"ln, .'l'.'k agr....ml'lIllllld t>xpldin

00 /hl' rea50/1S ,/ fOU deode 10 lId u,J:llilt:>f <I pamu (IT /ht> .-hi!d',
~
highlighted in rcrCIll guid,Hlce frolllthc RcrCH arc a"
IIgn¥ml'm

"c. follow<;
• 'nle doctor's primal)' dUly is to ael in the child's A sensible S<lfegllard, ocfore di~Jlellsing with parem,ll

~ be~t il1t('re"t. If then: i" (onniet between Ille doctor comelH, i... to seek advice ,lnd a fun her opinion from a
c. :lnd p,lrents or parent" ;U)J child, then the child's more experienced colleaguc,
00
o needs arc par,lmoun\. LOid L'ltllinRChaired a major inquiry following the
J: • \IVhcl1there are rea"ol1abk ground" 10 helieve a deilth of Victoria Climhie. Amongsl his wide-ranging

..."
J:
child is at risk of significant harm, the facts should
be reponed to social services in Englal1d, Wales
recommendations hc stolted th.H difflcullies ill ~eekillg
or I'..:fusal of parental permis."ioll Intlst not re"trict the
t ,lI1d Nonhcrn Ireland, wht>h'a\ in Srotland, the key
tesl for reponing 10 the ~eponer to the Children's
initial infonnalion gathering and sh;uing, e.g. between
health and social services, and lhb ..,lIould if necessary
"
Ol Panel is a perceived nccd for compulsory measures include talking 10 the child I It' \Iall.'d:

"c of supervi..,ion.
• I [('alth tmsts and their employees haw a statutory
Whl'lI II,e deliwm/f' h.1fI1I of (j .hlltl is Ifjmll{lt·,J ,IS Ii
pn."il1fjil~\ 11r.. rxamill;lIg lloe/or sllOllIeI rollSi,I.'r Wlrel/l/!'f
"c
<l
duty to assist social serviccs departments making
enquiries under Ihe Children Act 1989
/(,11/1/,'( II h'510F)' diwcl1r from tilt' eluMls in ,Jl.lf chiM$ b,"f
iIllI!USIS. WIll'I/ thill is so. Ille 11l.>111T)' ~Il/Jllld Iw /lIb,?7I i'n71
"
00
~
• (onsenl 10 disclosure of relevant informalion
.1OOul the child and Olher bmily members as J.
when IIu' conSt"1l/ of 1M caTer 11,1$ /10f l""en ol'wi/ll'd, u'ilh lilt'
r"<!.>01I rllr rl,sptmslIIg U'I[/, fonsem re..ort[,,1 hr lilt> /,x<lmlning
~ R.... ult ofthc:.e enquire<; "hould normally be sought doC/or fnl1l<JSj' C,ISi'S ill u",idl E"X1ish is Illlt 11Ie jibt lal/glulge
from a competent child and carer, unless doing so of ,r.. chilrl concerned fll.. USI' OJ 'Ill imaprt"f1-"T sf,oul,1 Lot'
":<:
()
\\'ould place the child or a sibling at weatc:r risk or
hinder enquirie" hy IlI"ovoking int('rf~renre with
rcl~ilkfd.

v('mal ('vidence.
• ,"Icdical pr.lCtitioners should disclose information
,lbollt a non-wmpctcnt rhild ifthcy can justify
Civil and criminal
doing "0 a~ ('s~entiallO their pilticm's medic<ll proceedings
interest Disclosure \"ithollt consent may also
Sijo;llifkant harm to children gives ri~e to hoth child
tilkc place where failure to do..,u may place a
welfare concerns, dealt with in ci\'i1 proceedings by soci<ll
rhild <It ri"k of death or seriOltS harm, orwhere
services (local authorities), 'lild L,w enforcement issues.
the information would help prevent, deten or
dc"lt with in cri Illi nal proceedings. ·Ille police have a duty
prosecute a serious crime.
to cany out thorough and professional iJl\'\.'Sli~aLions inlO
• Where there is llncertaimY:ls to whelher there is
J.llcgations of crime and the obtaining of good evidence
J risk of death or serious harm and an apparently
is oftell ill tht: ht:.., illlE'Ti'Sl" of a child, as it may make
competent child or pan~nl rcfll~l'S l>crmission for
it 1('".. lik"ly that a child will h.we to ~ivc evidence in
disrlo~ure, tilt' doctor is obliged to <let when a ("hild
court. h also contributes to the devdoplllelH of a good
IS in danger.
c~'idellce base upon which to develop future support
• The doctor should document thoroughly all
and help for Ihe child and family
(IN"i~ions and the TCllsoning behinrl them and
Ile.llth professionals need to keep in mind th<ll
should always separate deMils of fact from those of
child protection work can lead tocnminal proceedin~.
speculalion ilnd opinion.
Ilowever, children should not be cxPOSt.--J 10 mullil)1e
Ihe doctor-parent-child relationship is founded intinlolte examinations simply to prm'lde evidence for
on mutual trust and respect, ,lS well as a common <lim COlin pmcttdings. runhennore, leading or suggestiw
to hendit Ihe child Where lhe child presents \\ith communication with children or other members of the
~ymploms or signs suggesting he or she has been a f'lI11ily should alway:s be avoided. 1unher alh-ice "holiid
142 subject of abuse, it rna}' no lonRcr be possible to regard be ...ought from t:ilher Iht: police or the IniSt legal team
when a doctor believes that criminal offences mOl}' have
been committed.
Key points
• Be aware of the range of prcscmatiom of child
rna 11 reallllt':1It1abuse.
• I:lke a detailed history and perform a full physical
examination.
• DO(UI1lClll your findings accurately in the medical
records; nOle whal WJS explained 10 the Pill'ClllS
and what actions you are l<tking
• If Ihert' are child proteclion concerns, check the
Child IJrOlection Register to see if the child i:o; the
subject of a child protenion plan.
• Discul>s your COllcems wilh senior colleagues or
Ihe named/designated doctor/nurse for child
protection.
• C.Qnl>ider the need 10 communicate \Y"ith other
health professionals who have seen the child.
• Undertake further irwCl>tigal ion or oblain specialisT
opinion, where appropriate.
• Explalll :'It"\}' concerns to the parents and wh,ll yOll
intend lO do a~ d resull.
• Refer child proleclioll concerns to the Stalutory
agencies for child protection.
• Document any discussions, including rcft'rmls to
social services and whal aClions will be taken
• Do not discharge home until child protection
concerns have been rt.'soln.>d.
• /\Iway... imolw d senior colleague. A consultant will
1Ilum,ltely have responsibility for the patient.
Physical abuse
Althouj1,h serious CdSC> of physical ilbu~(' may be
obvious. thl.' rilnge illld incidence of phyo;ic,11 ahuse
\mil'S depending on cullllrn.1 pr.ldiccs. In some countri..::s
legislmion has been cst,lblish(.xl alo\ain~l ~11l<lcking. which
is colJ~ider{'d abusive, bUl lhis is nOl the elSE' in Ihe UK
and 11 remains teg.1lto use reasonable forcc to discipline
a child. ,'-'lost peoplc would, however, agrer lhat any
force thaI causes an il,jury III a child, such ,lS bruising,
rcpresellls unaccept.lhle force. Rullying at school may
also be a cause of physical or emotional abuse and it is
CSlimated thai 450 000 children arc bullied at school
at leasl ol1ce per woxk.
II has b&"'n shown lhal 14% of dlildrcn in Ihe UK
suffered the dfecl-; or M..... ~rc cffedS of physiral punish.
Inent, inrluding babies who :tre regularlysmackcd or hi\.
Mothers hit their dlildren 1110[1.' oflen thall f,llho:rs, bUl
scvero: illjUly is moM nJlllilionly inllided by a m:m in
thl' hl1l1~d101d.
Abuse may be scvcre and result in the child's dealh.
r,ltal OUlcomc lIlily be Jue to:
BOX 37.4 Common types of mjury that resutt
from physical abuse
• Bruising from blows
• Fractures from grabbing limbs and direct blows
• Bites (distInguish between dog and human d8fllal
pallerns)
• Burns from being held In direcl contact WIth hot
objects or scalds from fOfCed immersion
• Intra-oral injuries suggesting forcible insertion of
bottles or spoons
BOX 37.5 Features that should arouse susptcion
of phYSical abuse
• Repealed injuries
• No consistent explanation for how the InjUry
occurred
• Patterns of injury
• EvaSive Of uncooperatille history from a parent Of
caregiller
• Inappropriate chIld response (e.g. 'didn't cry'.
'felt no pain')
• Signs of other abuse (neglect, failure to thrive,
sexual abuse)
• The child's age too young 10 be consistent with
the history of how injury occurred
• Unreasonable delay in presentation
• Parental aggression
• Shaking injury
• Hlulll injury causing severe damage to brain or
:tbdominalorgans
• Suffocalion (may pre-will 'IS recurrent ;tpnoca or
-;uddel' unexplained de'lIh in infancy)
• Poisoning (see also eh. 21).
Ilox 37.4 Ij~ts the I1lUI"t' f()lT1mon Iypes of injury
that rt'suh from physical abuse.
The doctor must be alcrt to the v<tried w,ly-; in which
physicli .llmst' may pre<;ent Important fcaturcs arc
listed in Hox 37.5. A thorouf;h medical CXdlllirMlion
(tOP-IO·toc surf'lee examiniltion), including as~smenl
of growtJl and developmenl, is essential in all Gt5es of
-
Ul
><
smpe<"l('d child abuSt".
Bruising
There is no pathognoJllol1ic site of bruising thai indi
cales dlild abll~c. It i~esSt"llljallo document the numocr,
di~lril)[[tion and pallern ofal! bruisingcdferully. lip 10
:t hiM of :ill mobile children have al least one bruise
and many have marl' thall one, although more lh.l1l
ten art.' su<;picious. An impon:tlll due 10 a potcllti,llly
abusing family is if consent is nOl given to unclress and 143
~
">
"~
a. •

"a.
0;
~
.0. Fig. 37.1 Bruising to cheek - adult hand slap in a female Fig. 37.3 Bruising to back as a result 0' belt marks in a
Ul aged 3 years male child aged 13 years
o (COlJrtesy of Dr C Hobbs) (Courtesy of Dr C Hobbs)
.J:

"
.J:
~

t
"
Ol
"c
"ffi
"
Ul
~
.0
I1l
:!1
.J:
() Fig 37.2 Bite marks in a male aged 3 years Fig. 37.4 Torn frenulum in a male aged 3 months
(Courlesy 01 [K C Hobbs) (Courtesy 01 Dr C Hobbs)

examlt1(' tht" whole child. DCM.ribc how many bruises • Asphyxia

and illustrate distribution wilh ~ ~il1lplt: diagram on
the budy eh.lrt. {Those on shins. bony prominences
<111(1 forc1w<ld ;U,: ImJrt: likely to be accidenta1.)
Attempting to :lge hruises i~ unrdiahk lind should not
be JUlie, 1101 being based on good evidence. [s there a
eomisten! history for lhe Slle of the bruising?
Panicularly sllspicious bruising includes:
• lillusual sites such as ears, cheeks (I ig. 37.1), eyes,
mouth, tnlnk. genitalia, upper or unexposed p,lns
of limbs, buttocks and ni-~k
• Unusual pdtlCmS suggcsti,·., of grip marks, biles
(I ig. H.ll. marks consistent ,,,ith,, Slick, belt
(rig 37.3), bud..!.. or ~hoc
• Injuries in the mouth (I ig. 17.4)
• 1\"0 blilrk eyes.
The differenti,lI diagnosis of excessive bruising
illrlUJL~:
• COdglllillion disorders
• I lenoch-Schonlein pllrpllr.l (p. 2(17)
144 • CuJldgcn di:sorders (rare)
• Mongolian blue spots (p. 12~)
• Artd,lCts ~lIch J.S din. felt tip rn.ul,s or dye from
clothes.
Fractures
Fractures due to child abuse ,ue mOSl common in
babies below the age of 2 years. In tile first 18 months
85 0,t, of fracturE'S are due 10 abll<;(" and in pr..mohil£'
children «9 months) fractures should always be
treJtL-tl as highly suspicious.
In all children owain fractures should lead to
suspicion of abuse. These include:
• Rib fractuR'S, which are highly specific for abuse
(fresh fractures m.ay be difficuh to recognize on
X-ray) Cudiopulmonary reSUSCil.llion rarely
CtlU<;L'S rib fracture and docs not cau$C posterior rib
fractures
• Fractures in\'Olvinga long bone metaph~is (Ilg. 37.5).
• Any fraciurc of fcmur or humerus in infants.

Fig. 37.5 Femoral shaft fract....re in a girl of 6 months
(Coorlesy 01 Dr C Hobbs)
• Multiple fraclure ~He~
• A fr.lCture that occurs .1S the result of minor
trilurnd, e.g. an infant falling offil wfa
• Lvidence offraetures of different ages on X.ray
c.'(amination.
• An inildeqll,lll' or ,Ibsellt l'xpl<lnation for how the
fraclUre OCClITr£d
• Skull fr.1Clurcs, which do nOI occur without
considerilblc forre,ls lhccxpl<lnalion ilppropriale?
I'ilrticularly COllcernl ng are IhoSf involvi ng lhe
occipital bone, depressed fractures, wide (> 3 mm)
fl'aClure~ and 11ll1l1il'lc fr,lClurt~~, partirul;lrly if
crossing a sUlLlr£ lm£ (Fig 37.6).
• Spinal fraclures. Cervical fractures occasionally
ocrur \"'ilh I1Ull·;lccidcrl1al shaking injury.
DilTerential diagnoses for the cause of fractures
include.
• Accidenl
• Abuse
• Birth injury (e,g. d,wiclc. humerus)
• Ostrtlpfnia (rickel~) of premalurity (p. 376)
• Osteogenesis imperfecl,l
• Copper deficiency (very rare)
• Structural variant, e.g aberrant cranial suture.
Investigations
A skeletal SlUVt'Y is mandalOry when Ihere is a fr<lClure
sUgge5lin' of abuSE' It is also recommended for any
Fig_ 37.6 Bilateral linear parietal skull fractlKes in a gir1 of
6 months
(Courtesy of Dr C Hobbs)
child under the age of2 ye,lT~ \\lho is suspected of being
physicallyabuSE'd. Repealing Ihe ~ur"L'l (a chesl X-rilY
and films of other suspicious <He,l~) after 2 weeks may
reveal previously undiagnosed fractures and can help
in the daling of the Ollse! of the fr<lnllTc. C:ompUled
tomography (Cf) he<lcl scam 'lIld hone sems may
be indicated but require discussion with .1 senior
colleague.
Thermal injuries
These occur commonly in childhood and often present
tn
-
to primal)' cafC dOrlOI'S. A rd.tli\ldy small number
arc due 10 child ahll.'w hill are known to be under-
recogni7.t'd. Ihermal injuries include burns ,md scalds.
TI1cse include scalds (rom hOl walt'f, food or Sle<lrn
)(
Burtis m.l)' fullow etmlM1 fmm hot ml'l.,l obiros such as
an iron or ra(hator, cig..1reues, matches or namcs, friction
from being dr,lggoo across a c(lT~t, and from electric-al
and chcmical ~ourccs.
In ev.llll,lling a bum lhe following fealmes axe.
import.1nL
• Inconsi~tcnl hi~lOr)' as 10 hnw the injury
occurred
• Dcnidl thai the injUl)' b ,I burn
• Repealed burns
• Sile or multiple ~lIes (I£sians on the f('et ,md backs
of hands arc commonly duc to dbu.sc) 145
 Fig. 37.7 Contact burns from an iron in an 18-month old
girt)
(Courtesy of Dr C Hobbs)

• Shape:
- Is it consistent with the historyr
Are demarrnlion lines sugge~;(ive of a panirular
object (lig. 37.7)1
Cigarette burns cause dl..'Cp circular cratcrs
o 'i-I Cln in diameter, which scar (Hg_ 37.8)_
Accidental brushed contact causes superficial
iniury roughly circular but wilh a taiL
Immersion scalds should be panicularlyevalualed
for l.."videliCc of:
• Tide mar"-~ indiClting Ihat limb or buttocks were
forcibly immersed (I'ig. 379)
• Abscllt splash marks sUAAcsli,'c of removal from
the hot WAter.
TIle dirTerellti,ll di<lgllosis ofburtls includes:
• Impetigo (p 110)
• Nappy rash (Ch, 27)
• Staphylococcal scalded skill (p. 130)
• IHngworlll infe"ioll (p. 112)
Head injury
l'hi1. furm of abll~e "mit's the highe:<il monality rates and is
panicularlycotnmon in infJ.IllS. Isolated sevcre head iniury
Fig. 37.8 Cigarette burn in a 8-week-01d male
(Courtesy of Dr C Hobbs)
SUggc;lS either shaking or impact iniUly or both. Shaking
injury rt'5ulting in rombinalionsofsubdural haemorrh.1gc.
brain injury and retinal haemorrhage is most comlllon at
around 3-6 months of aRe. Subdural haClllOrrh<lboe may
follow binh or 3ccidemal tl<l.uma. ~m.lll asymptomatic
bleeds may be <;een with imaging pcrfonned after hinh,
but resolve within the first 4 wccksoflifc.
111c main clinical features of non-accidental head
inJuT)' (I\.AIII) include:
• Del,,)' iF! pn:sl:llfalion. c,g, child may be well with
enlarging hCild
• IIU.o'IlSlsrl"lt expltmm;oll: e,g, hislory of a minor fall,
severe injury
• Suddell coll{w~e in all ollu:rwise well child
• Presellce of mlll'r 'IIl,/des (bnlises, skull, rib or long
bone fractures)
• Ueti,lallwenwn'/Ulg/,s in one or both eyes.

A B

Fig. 37.9 Forced immersion scalds in male 18 months old

146 (A and B) (Courtesy of Dr C Hobbs)
 '\I B. Ihe absence ofonc or mOfeofffaClur('S, bruises
or rClinal haemorrhages does nOI £xdude abuse
1\11 children suspt'C1ed of ha\'in/o; non-accidclllal or
olher head inJwy should haw a magnelic re\Onance
(MR) or cr head SGlIl to confirm lhe presence of
subdural haemorrhage. M..eletal survey may fE".'eal othcr
bony injuries. An £xperienced ophthalmologi:.t should
be asked 10 cxamine tht: child's eyes as soon as po~ible
Jfter ,ldll1bsion 10 look for retinal h<1cmorrhagcs. 'lhese
are a. common feature after birth but USUJlly di,~appear
within d.1"S. They lIMy OCnlr after severe a.ccidental
injury (e.g. car accident).
Child sexual abuse
Sexual abuse in children ""ill not be rccogni/ed if il
is not considered by the clinician. A high index of
slispicion must exist and healthcare professionals mUSI
acknowled/o;c that child sexual abuse may occur in any
f.unity. One study found lhat in the UK 12% of girls
;:md fI% of hoys have suffered sexual abuse ill some
time in Iheir childhood. Olher studies haw suggested
higher fi~un.:s. Bo}'~ are les~ likely to disclose abuse
lhan girls. Ihe abuser is most commonly ,1 member
of the household or an extended family mernber or
friend, In the \'ast llu;ority of cases the child knows
the abust>r, who llIay be either a man or a woman,
Sexu,lI abuse of children by suangers is much less
common,
Abusers usually groom and manipulate children
into silence o\'('f a period of time. A child who is abused
by a dosc family member may adapt psychologically,
a proce'l.... that has boet-n termed 'the child sexual abuse
accommodation syndrome'. 'l1le compollellL~ of lhi~
comprise:
• Secrecy
• 1'11lmpmcl1t and helplessness
• Accommodation, in which the child takes
re:.ponsibility and feelings of guilt for the abusc
• Delayed llnconvincinK disclosure and Jolter
retr.letion of disclosure.
C:hild S("Xual abuse h.1S both shon- and long-term
effects Shon-term (childhood) dTects include:
• [motional. behavioural and psychosomatic
disorder
• Diffirulucs fanning friendships and trusting
rcl.llionships
• Schnolunderachiewrnent and truancy or excellent
school performancc and aucndann:
• Pl'cgnJ.ncy, sexually lr<lmrnitl('d infection (SII)
• AblJ~ivc behaviour to\\'<lrds younger children.
I.ong term effects include:
• Sexual rdJ.Liollship diflicultiE-'S
• Mental health problem:.. e.g. depression, eating
disorder
• Social dysfunction
• \-lay bffome a perpetralor.
Problem·orientated topic:
a girl with blood-stained
underwear
Jane 15:; years old and her preschool teacher
ha5 noted I1lood staining on her knicker5
three times in the last month, Jane i5 an
aggressive child who frequently hit5 other
children in the nursery, She uses swear words.
which the teacher thinks she can only have
heard at home, Her teacher is concerned but
does not want te up&et Jane's mother and
notifies the health visiter, who in turn informs
the GP. The GP refers the case to h05pital.
Q 1. What should the paediatrician do?
Q2. What investigations should be perlormed?
Q3. How should the child and family be
managed?
Q1. What should the paediatrician do?
TIlt"re art" very few signs Ihat are diagnostic of ..exual
abuSt' in lhemselves, lhe diagllo... i~ b usually made by
piecinR together a iigsaw of infonnation from many
sourn,:s. TIle major clues 10 diaAnosis arc as follow~.
Disclosure
This i~ the most common w:ly in which scxu,d <lbllSt'
is diagnosed. Children rMel,' fabrkale di.~do...ur{' of
en
-><
sexual abuse and their ;J"OlIilI should always be taken
seriously al1<1 investigated 'lhe child should be told tll.ll
the dlsclOSLlrewil1 be passed on to social services and the
police. Ihe doctor to \\-horn th~' child discloses should
not interrogate the child, a~ thts may compromi:.e the
subsequent legal process. -Ihe doctor mar. howewr,
b't'mly queslion the child ill open and llon-ll::ading ways
to find out.- for example, what it IS that makes them sorc
betWf'f'll their legs. If a child discloses in confidrl\ce he
or she muSt be lold tlMtlhe inforrnation will be passed
011 for his or her proteclion, :IS well as for the proK'Ctic)Il
of other children, 'lhe doctor should hm'C 110 t,thic,,1
dilemma as to whetber lhi~ inform<ltion shollid be
disclosed, ,1,<, the GMC <lcknowledges that protection
of lhe patient overrides the duty of confldellti.,lity to
the patient 147

Fig. 37.10 Rngertip thigh bruises in sellUtlJ assault in
femtlle aged 9 yeul"S
{Courtesy of Of C Hobbs)
,"n.-er prorllls, Ul /.:f!i.'P a c1,illl's secret, e"pecially
IldZUllCi.' of k'lOlt'ill~ ldUlt it is.
Vaginal discharge or urinary symptoms
These are non-specific sym!JIorns in prepubertal girls but
should arouse suspicion of st:XUal ;'tbuS('. Many girls who
ll,tvt: bttn ruhhed or fondled maydC\'e1op vulvovaginitis.
bUI only a proportion of girls with vlllvov<lgil1iti~ h:we
been sexU<ilJy .Ibll~ed. Vaginal di<>eh;lIl,'e in one case
conlrol study was found significantly more often lhan
In non-abused controls. The differenti,,1 diagnasis of
,,'ulvO\'dginilis is di~ls.sed in Volume 1 on page 331.
A vulval s\\lab and urine culture should be taken.
Do not insert the swab illlo thl' vagina bUl take the
specimen from Ill(' labia.
Rectal or vaginal bleeding
VaJ;inal bll..-cJing ill a prepubertal rhild is usually due
to trauma and as such is strongly linked to sexu,11
abuse DifferentialinJ; abuse from l1on-<IbLJ~ivc genital
trauma. such.l~ d ~Ir<lddle injury, is not always simple.
E\'t:~n Wilh a c1e:lr hi~lOry, repeated by lhe child, caulion
is required Injury to the hymen, pO.'itt:rior genital
injury and bruising elsewhere should rai~ concerns
and prompt a thorough assessment .1nd referral 10
social serYlces. Rectal bleeding may occur as the resuh
of a fissure, r('Ctal 1'01)'1). inflammatory bowel disease
or gasuoenleriti~ Ille presence of either of these
symptoms in a prepubenal child without an obvious
unambiguous history demands rapid referral to a child
prolection learn (lig. 17.10).
Behawourald~turbance
Emotional and beh:wioural disturbance following child
<;exll.11 abuse is common and may include self-harm.
mutilation. d¥Srt~ion :lnd scxualii'txl behaviours. More
oftcn. how('wr, the p;trenL~ describe non-specific symp-
148 IOllls including anxiety, inteffuptcd sk-cp, bad dreams.
naughtiness, disobedience Of just :I non-specific
subtle change in the child's behadour Psychosomatic
symptoms are common and include ahdmnin.ll pains
and headache:.. Secondary wetting and soiling arc also
imponant ~)'mptollls.
Pregnancy
111i<; is dear evidence of sexual activity! It i~ obviously
imponant to distinguish between con....nsual inter-
course with a leen<lge boyfriend, which is not abllsivc,
and pregnancy resulting from an ahusiw exploitalive
relationship with <111 ulder adult. The issue of consenl
ill the laller SilUatlOn is one of whether Ihis can in
reality be meaningful .1nd given all <1/1 equitable basis
or whether the girl ha~ bet'll groomed and exploiledl
corrupted.
In Examination
TIlO~re may be evidence of force during Ihe a~sauh, as
seen in physical iniuries such as bruising of the lower
abdomen, genit:ll area, thighs, buttocks, breasts and
grip m:lrk bmising around the knee; or on the upper
<urns. Examination of the genitalia may reveal either
supportive ordiagnoM ic lindi ngs ofabuse. For example,
<I fresh tear of the hymen with frc~b bleeding or an
old healed uansaCliOI1 of the hymen :Ire hoth strong
evidence of penelrating lr:luma. An anallaceralion or
scar is a diagnostic sign of anal penetration and renex
anal dilatation is aile of a number of other findings
supportive of anal abuse
Q2, What investigations should be
performed?
Ira \'ulval swab identifies a sexually Ir.Ill.'ill1itlHI infec-
110n (Sn). immediate referral to a child protection team
should be llIadc.llw inci(lence ofSTI in abused children
is dooul 5% ;md the most commollly CllCOLll1lered are
gonorrhoea. genital or anal \Vart~ and chlamydi.1.
TricilOmlm1l5 tJ,'gin(llis infedion (usually asymptonlatic)
in a child over 12 months suggcsls rc(elll 'l('xual contact
Olher infections that Gtll bc~cxtl<llly lr:msmitted include
genital herpes simplex. human immunodeficiency virus
(' IIV), ~yphilis and pubic Ike. Vcry often c1lildrt'1l with
S'I I show no sign of injury 10 the genilal or ;,"al areas,
Q3, How should the child and family be
managed?
If a doctor has cvidence causing him or her to smpccl
child ~ual abuse, lhis informalion I1HI~1 he passed
on to lhe social servkc~. Discussion wilh a named or
designaled paedi,ltrici,m may be useful if further advice
is n~qLlircd. "111t' pnmary caregh"Cr should be informed
of the referral unless thefe is any concern that the
dbuscr liMy be wiHnoo and evidence may be deslroyed
or pr~<;ure puc on the child 10 withdraw the disclosure
or change the story.
The doctor must keep careful ami ;lc"Curnu' can·
temporiUH'ous note<; of [he imeiView, including who
said whal to whom and any examination findings.
All p.ledi.lIricians should be famili,H with the Itoyal
College of Physicians (RCP) document, "he Physical
Signs of Sexual Abuse in Children'.
Once the social services ha\'e been informed, a child
protection investigation occurs. If the child is making
a disclosure or alleg.1tion of abuse. he or she is usually
interv;('v..'ed jointly by an expericnced social worker
and police offin'r ,md lhe inlerview is Videotaped as
t:videnct: for any laler coun hearing.
The child should be examined by <l p,ledhllrician
tr<lincd ill cX'lInination and assessment of child sexual
abuse either alone or jointly with an experienced police
surgeon "he key issue is whether the doctor has the
llL"(cssary skill". Remember that no physical evidence
may be found, even in cases with a dear allegation of
penetrative sexual abuse. The purpose uf this exami-
nation is tu:
• ,\c;ses..<; the nature of :my abuse
• ColleCt forensic e\;dence of sexual dbusc (e.g.
semen or spcrnutozoa in the \lOlgina, r«!Um,
mOlllh or flsewhe-rt')
• Screen (or 51115 and pregnanc)'
• Pro"id..: rt:d~urance Ihal Ihere is no pf'nml.llenl
()hysical damagt'
• Arrange a treatment plan for idcntifiL-d medical.
psychologic,ll and emotional probkrns
• Offer emCl'gellCY cOlltraceplion to po~tmenarch:tl
girls prt'S~lI1illg wilhin 72 hours of a sexu,llly
abusi\."t' event.
The main aim of management i~ 10 prf\."fl1l funhfr
abuse and pro\'ide suppan for the child and f,lmily as
necl'SSdry Referral 10 a therapeulic ~cf\'icc. e.g. Child
and Adolcscenl i\\cmal Health. may be required.
htlpJ/www.bma.org.uklap.nsf/ContenV
childprotection
Bnhsh Modlcal AsSOCiatIOn: Doctors' Responsibilities
in Child Protection Cases, June 2004
httpJ/www.gmc-uk.orglguidance/good_
medical practice/index. asp
Goncral Medical CounCil: adVice on good medical
practico and confidentiality
Acknowledgments
We arc vcry gr,lIeful to Dr Chris Ilobbs for advice
about the manuscript and for allo\.,;ing us [0 use his
illustrations.
Further reading
Hobbs Cl. ''''ynne 1M 2001 I'h}"~iG,] s;gn~of dlilJ .d)u~ a
colour alias. 2nd I'dn. WR S.1unders. PhitIJdphiJ
Repon of a workmg pany of the Royal College or I'h»l(ians
1997 I'hysical sil!Jls of sexual abu\(' in children RCP. I.o"oon
en
-><
149
 Anthony Costello Therese Hesketh David Osrin Andrew Tomkins

as Child health in
developing countries
Learning outcomes 150
Introduction 150
Child international health 150
Neonatal health 156
Nutrition and malnutrition 158
Children in difficult circumstances 160

.-
By the end of this chapter you should:
• Know and understand definitions of key statistics
• Know and understand the UN Millennium Development Goals
• Be familiar with the major infectious illnesses of developing countries: malaria, HIV/
AIDS and tuberculosis
• Understand why neonatal mortality is so high in developing countries and methods
to reduce it
• Understand malnutrition: its dietary, social, environmental and disease causes;
diagnosis - clinical and biochemical; its impact on child health; prevention and
treatment
• Understand the concept and the global importance of children in difficult
circumstances.

Ul
-><
Introduction
A Ihird of global deaths occur in children under 5 years.
111is equ.ues 10 almost II million deaths per annum, of
which almost all (98%) take place in poor countries.
Beneath the classification of cause of death lies a raft
of influ('n("('~, in which poverty, gender, gowrnan("l',
macroeconomics imd malnutrition all playa part. l!
rem.1ins.1 f,let thai, of the 4.4 billion people: living in
poor countries. 60% lack access to simitatioll, 33%
lack clean waler, 2o<'4! hayt' no heallhcdTt', and 20% do
150 nOI h.1\'e enough dietary energy and protein
Child international health
Problem-orientated topic:
a presentation on child public
health
You are invited to make a pree;entation on
child public health in your area of the UK
at an international meeting. The audience
will include health profese;ionale; from a
number of countries, with repree;entation
 from Africa and South Asia. You feel that it Q1. Which child survival statistics will you
would be productive to set your di9CU99ion use in the introductory discussion?
in the context of global child health. and to
l\.lthough rough figures are available, we do nOt h'1\"C
highlight the areas in which your practice
acotrate data on the numbers and causes of dlild deaths
is similar to and diffen5 from that of your
in de\-eloping countries. particularly at the younger
international colleagues. You will have to deal end of the SGIIc. Ideally, statistics would ~ based on
with questions about common international vital registration - as they are in the UK - and dealh
child health concerns. certification would be used to monitor mortality patterns
and document leading causes of death Unfonunately.
Q1. Which child survival statistiCS will you use In the vilal regtstralion SYSlems are Ilot fully functional in
Introductory discussion? most poorcoulllrics, and we have to rely 011 ellher small
Q2. Against which international goals might you sentinel fI.:gbtratioll il1itiative> or sample SUlYe)'5. One
frame the discussion? well·l..nowl1 source of figures is the Demo)l,raphk and
Q3. What are the world's top three causes of child llealth SUf\.·ey (Ol IS), which colk'(ls infonn;\tioll on
mortality? a 1.1llge of family h~ucs from a n<ttional s,1mple and is
organi;tot-'d 10 be comparable between countries.
Q4. Can you name and summarize three
international child health programmes that The most common child ht:Jllh illdin'~ med 10
are relevant to both your practice in the UK compare different areas or progres'> owr time are the
and your colleagues' practice in developing ltmler-'; monalilY rate and lhe infant mortality rale.
countries? Althollgh child monality does have a t{.'('11 nieill meaning.
Q5. What are the immunization schedules likely to it is oflen us..:d as ~honhand for under-5 monality.
be in your colleagues' countries?
Definitions
Q6. What is your opinion of the WHO strategy
Definitions of terms are gi\'cn inlable 18 I and
for the Integrated Management of Childhood
Illness (IMCI) as a model for ambulatory Figurc 38.1.
paediatric clinics in the UK?
Q2. Against which international goals
might you frame the discussion?
Child survival is addressed in the Millennium Oc-.'dop-
mem Coals set by the UN. Although lhert: i., a specific

Table 38.1 Definitions

T.~ Definition Related term Definition

St~lbnttl' A fetus bom after 28 complete weeks S1ill~rth rale (SBR) Stillbirths per 1(X)J births. live and sliM
of gestation, who has died before
delivery

en
-><
£arty r1OOI1JtaI cloalh Death or a live-born Infant wrttlln Ear~ noonatal mortality Early neonatal drotM pc.- lOCO tr.e
7 complete days p::.stpartum rate (ENMR) births

La:e neonatal doo'h Dealh of a i,ve-born Inhm beh~eon Late neonatal morItllrty Late neooatal cl9alhs per 1000 We
8 and 28 compl"lTa days ~'pan.m r;;r.a (LNMR)
PCf'n<lWI death Sf, brrth or earl); neonotal deam Pennata mortaily rate (F'!'flR)
""''''
Still:W1hs Md oorty neonatal deat'lS per
HXXl b'rths. kve Md st.
I\"Ollatai oe31h Em,' or late noonataI dooth f\;eortilaI 'lU"..a: ly ra:e I\I~"~ £My and a's neonatal deillhs per
1000 ".OS bi1:hs
Post -nec:Y'a!aJ death Death o' a -:a-bom 1'I"'Il"Il b61'.Y98l'1 Post-naonaUi mortaMf Posl-neona:aJ doo1lS per tooo to'S
28 days aroo 12 oof'1p<lls r'lontrlS rata (F"lt-!M:)
poS".patlum ""''''
Neonatal or post -neona:o death 'I'ltant mortality raTe I MAl .,I.:rot deaths PElf 1000 r,",= trJls
""'"
lJo'lder-50eal" Death o' a liI.-e born ntanl wrttw1 l.JMer-5 'lU".aI<ty ra:e IUSfIR) lJnder-5 oaalhs per 1000 ":0 brtls
'; co!'l'lPGle \"l!ars pos:par!U:Tl
, ~'lIS <s a . . . ::<kfig dL'tlf"l crJ ••'Otw;:h ar::o:Jfd, ....,It' the Interralonel Stalistical C'assdlcalon 01 [)seases Q't11"lW1S1On llCIJ 91_ In oN..'W or dIE! IacI !hal
roe<o'.tom "ta IS at ~ gestations ncm rout,roelys.6Vlve" irOJslfla':lad COUllieS. -t>edaM 1lOIl TlilS bEolr<ovlSed n lCD-l0 to !<Ike n gestatons as (No'
as 22 C«'1PIete weeks 151
 Goo ---+- 22 ....eeilS· geSlati:lrJ ~
~ The infant and child

• 1 days ~ 28 days
Ifr

----+
• "'C T'>""'C

12 morths ----+
"00

5 years
Early f\ec:mata Lalit neonatal
,~. ,~. CIIId death

Pennalaldealh

J Neona:al death

Infant dealh

FIQ. 38.1 Delinit,Ofls

Table 38.2 Mlliennium Development Goals

Goavtarget oeseription

ao."
Ta'lJ'l "
Eradicate ertreme poverty and hungeo-
Ha~. ~'{l(ln < 99O;wyj 2015 1'lEl proportion ol people ~."'losc income IS less ttlan L.lS $1 a day
Target 2 ~"""!l. 0I!"V.'!'IEI1 '990 and 2015 1'lEI p'OpOlt1Of1 of pllOP'e ...'leI wf'er ft'3'l1 hunger

Goal2 Achieve univenal primary educ::ation

o'gel3 ~nsve t"cl1.lJ~ 2015. Cf"ll(l"ef' e-.erywt e-e. bays and girIs.9 wi be ab'€l'o COIT\llele a U C(USEt ar prmary edocJoon
Goal 3 P1'omole gender equality and empower women
0<" Eim ',JI. ro:r- dispanl{ In pnmcvy alld ~ eoucallOrJ, preferably b'l2005 aid to <II >e'>'e!S ol educaloo no la'ar
man &'0
00al4 Reduce child mortality
TII'961 ~ RAd:JCfl by two-'t' '"CIs, b~:een 1990 and 2015, theln:l« 5 mort3hly [:lIO

Goal5 Improve maternal health

Tafget 6 Reduce by Uwee-QUaners, ber.-:een 1990 and 201 5. the matErnal mortaily ralo

ao."
T:w-get 7
Combat HIVIAIDS, malaria llnd other diseases
HilVe halted by 2015. and beglll to reverse. the spread ot HIV/AIDS
TilITI 81 8 H;we MITed by?Ol S. and begu'l to reverse. the incidence of rnalaria Md oC''''.:...C'"C''.:...'''dO'O'''C'C'''O''--- _
Goal 7 Ensure environmental sustainability
Target 9 InTegrate lhe principles of susta,MOO oovek>pment inTo country poI1CI~ and programmes arid rQlItlf5e the loss of
environml!fltClI resources
Target 10 11f1rve, hy 2015. the proportion of people without sustairtable access to s.:lfo drinking water
TArget 11 By?O?O. to hilve ilch~vOO II ~nlflGam improvement in tile lives of at Ioost100 milhon Slum dwellors

goal for il11proving child Mlrviv<ll, ,III the goals are Q4. Can you name and summarize three
inlim:\Idy linked \",ilh child he,llth (fable 38.2).
international child health programmes
that are relevant to both your practice
Q3. What are the world's top three causes in the UK and your colleagues'
of child mortality? practice in developing countries?
(;lllIMI C,Ill~('S of childhood dc,llh. in order of lllagni- Child health is affooed by improvements in cducJtion.
!lIde. are infrastructure, health sc",icc sySlcm~, s,mitatioll and
• Perill"'!JI .md llCQlldlal disorders Ilulriliolt. IlowL"'vcr, ,I numocr of programmes specifically
• Di,mhOt'al di",,'ase largel health Issues. .)orne of these programmes are
• Respiratory infeClion limited to one ty~ ofdisease (vellkal) and some attempt
• "1.d.HiJ 10 address d range of problt:ml> (imt>gr.lted).
• IIUIllAn il11ll1un(xkfi,iency viru5jacquiroo immune rhru- lIltemall0nal programmes that are directly
deficiency ~yndrome (IIIV/Aln~) relevant to developing countries are discussed below
152 • ."'Icaslcs (Box 38.1). These also have rd,-vdllce in Ihe UK.
 BOX 38.1 International Child Heatth Programmes
• Expanded Programme on ImmunizatIon (EPI)
• Control of Diarrhoeal Disease (COD)
• Acute Respiratory Infection (ARI)
Q5. What are the immunization schedules
likely to be in your colleagues'
countries?
Expanded Programme on
Immunization (EPI)
Ill(" IPI is the basis for all global immuniL.:lIion pro-
grammes (Tilble 38.3). with varying suppon from
irllernational org'lIli"..ations depending on a counll'Y's
needs. World-wide coverage is roughly 80% o\'erall.
but there Me wide variations, cSl)Ccially in rf'ceipt of
allllm:e Jiptlitwriajletanlls/perlUssis (OT!') doses.
The carnpJign to eradicate polio began in 1988 and
has achieved over 99 % reduction in disease incidence
through a 'itfaU'sy based on
• Iligh routine infant immunialion
• Supplement"I)' doses 10 all childrm under::; years
during national immuni7_1tion days
• ~uT\'eill:tnce for wild poliovirus lhroulo;h reporting
Jnd testing of .11I cases of arllte flaccid p<lrnlysis in
children under 15 years
• Lugeled mop up camp'1igns onct.: wilJ poliovirus
transmi~siol\ is focal.
I'resentl)'. polio remains endemic in S('Vcn countries,
and six counlries have been Idbclled as sU'i('eptible
to reintroduction. /\nention has now shifted to the
endgam~, In order to be cenified polio-free. a country
must have had at least 3 years of no cases of wild polio,
demonstrale a capacity 10 detect. n':{xm and respond
10 imponed case~. and have contained laboratory
vims stocks, Likewise. sufficient ~IOC"S of vacrint: must
exiSI hJ covt.:r jJotenlidl oUlbreak~ and routine immuni-
zalion programmes must be strong. Bcc... u~~ of lhe
proportionately glOwing incidence' of vaccine-derived
polio. nun}' countries arc switching from oral to
lIl]ectable polio vacan(".
Table 38.3 Immunization programmes
Age Vaec:ines
~rth BCG
6wccks 01P1. OPVI
W-. OTP2, 0PV2
,,~ OTP1, 0f'V3
91l~1ls Mee.*s }-l!Iow' 'eoiEw'"
'M'Ie<@'/f'1Ow1<W6o" 's a rsk
lflCG .. baaIIe ea.-".lI·I~-Gue....: Dn:> _ dipt thl'fl.l letar...s snd pe'1.JSSIS '.'aCCI'le
"leasles is responsible for about 10% of under-S
deaths - 800 000 deaths per y("ar - 85% of which
occur in Africa andt\sia. Epidemics.1re particularl}' SC\-ne
in cruwded conditions such as urban slums. school..,
hospitals and refugee camps. ,\.1ortdlity is redllCf'd if
\'itarnin A storl..'S are replete, if anlthiotics are given for
b!ich:ri<ll colTJplir,llions, if oral rehydralion thempy i~
used for diarrhoea. ilnd if food illlakt: is increased for
up to 2 monlhs after til<: illnes'i A measles eradication
goal was sel in 1997. Unfonunately, the neces..~ary
co\'erage to achieve eradiriltion is o\'er ~O% and the
current lewl is on awrage about 7()Ol). Eradication \"i11
therefore reqUirE" a series of national and loral catch.up
rounds of immuni.tatiOIl, as well as vel)' good rOUline
inullunizatiOIl systenls
Control of Diarrhoeal Disease (COD)
The discovel)' lhol oral water, 1':111 and sugar rcplelion
(amI rehydration solution, ORS) W(lS a powerful tool
for treating the dehydration call~t'd by diarrhoea led
to thc inslilUlion"li/..alion of or.11 rehydration therapy
(OlfrJ and its indusion in the child survi\":ll inili.ui\'es
oflhe 19805. Idany healthcare facilities now haw ORJ
areas, and outreach wor"er'i are romindy traincJ to
asst-:.s degrees of dehydration and manage di,mhoca
at home or rder .1pproprialcly.
Acute Respiratory Infection (ARI)
OUlreach workers Me also n:11lf<l1 10 effort~ to reduce
the toll of lower re"pir,uory tract infection. Pncumonia
is responsible for 20% of child do.:dlhs, abOUI 2 million
.1Ilnually Current initiatives art' h:,~ed on the rdea
that.
• Most falal pneumonias are b.lctcrial (partirul<lfly
'im'pIOt-OCClI5 prll!1I1110rlilll' and f flll""/nopIJI/us
iIlJluelL::.<Ir!) .
• 'I illJd)' antiblOllc treatment reduccs case fatalily.
• ~imp1e algorithl1l~ based Oil counting
r~~pir<l1ory f.-llt'" are semiti\"e and adequately
specific to identify children who rt.:quire
antibiotics.
• Ilcahh wor"l'f'l can use Ihe .1Igomhms, select
"Ilpropriate treatment. administer antibiotics in
-
en
><
Where hepatitis B transmlsslon common Where hepatitis B transmission less
common
HB'
HB2 HBI
HB2
HB3 HB3
CP'J. or31 Dt*l v3C0"lll. P-lEl = ~ 115 Ell 153
 tIll' CO 111 III II Ility, roumelilarellts, follow children
up ;:Inc! rder in c;:lse of complic;:llions. The World
I le;:lllh OrR,miz.uion (WIIO) algoritlull classifies a
rL'Spir,lIU1)' illl1cs~ <1'1 pncumonia if the respiratory
rate i'! greater than ';0 per rninLlte in a child older
th;:ln 3 months. l'his model is being introduced in
"C'"
,\ llumbL'r of (ouJ1lriL"ll but ha~ yet to be rolled alii
"~
h'orld-wtde.
::>
o Q6. What is your opinion of the
o Around ')0% of Ihe I milhon ,mnual dealhs from
Cl WHO strategy for the
c: Integrated Management of
"0.
o Childhood Illness (IMCI) as a
1"ll
model for ambulatory paediatric
clinics in the UK?
c: .\ slrategy ddol>lt:d by the \\THO, l\.tCI grew out of lhe
knowledge that most childhood deaths occurred as
J:
'"~ a resull of five conditions: pneumonia. diarrhoea,
measles. malnutrition ilnd malaria. A sick child
J: may be suffering from more than one condition.
"ll individual srmptoms and signs can arise from a
:c number of conditions, and lhere is an opponunity
o 10 integrale programmes such as CDD and ARI into
.1 more holistic package. 'Ihe IMCI slrategy has lhree
components;
• Improving the skills ofheahh personnel in the
prevention and treatment of childhood illness
• Improving 11000.. ltli systcms to deliver quality care
• Improving r,unily and community praaices in
relation to child health
The illtruductOly plhlse involves orientation of
country d('ci~ion-rnakers, creation of the neces.sary
rnan.1gement StruCture, ilnd extensive discussions with
minislries uf health. 1\ 11,1(iol1<11 ~trategy is dcvised.
IMCI guiddilws (Ir(> ad"pted for local use, and activities
begin in a number of districts. These activities generally
il1volve tr,\illill!,\ of I1Cillthr;lre workers, health system
~trenglh('nit1g <lnd dialoglle with communities about
child hcalth problcms
From a clinical point of view, hcahh workers arc
traincd to'lpproarh the<;ick child systematically: 10 check
initially for danger <;igns, assess the main symptoms.
assess nutrition ,1Ild immuni..:ation status and feeding
problell1.~, ,lIld c1wck for other problems l'his allows
clas<;ific.1Iion into one of tht'E'E' groups: children who
need ur~tH lefen,ll dliklrclI who C,1Il he managed at
,m outjMtienl hc,lIlh facility and children who can be
managed at home. 'I he firsl dose of treatment is given
on sitc and the ho.:,llth .....orker coun.sels the family on
.subSC411ClIl trC,ltl11Ct1l ,lIld follmv.up. This systematic
approach improws the quality of care, provider morale
and client S-ltisfaetion. It also le.Ids to more r.llional
154 drug usc..
http://www.who.inVchild-adolescent-health/
integr.htm
IMel integratod approach to the management of
childhood illness
Major infections
Malaria
malaria occur in sub-Saharan Africa, mostly in pregnant
women and childrcn under 5. "tataria morbidity and
monatil)' hiM' artllally increased over the lasl decade. In
areas of low endemiol}' where immunity is not usually
acquired, malaria during pregnancy doubles or Iriples
the ri.sk of death. In arf'as of high endemicity, infection
during pregnancy tends to exacerbate anaemia and is
associated \'\Iith 10\\ birth weight in infants. About
500000 African children develop cerebral malaria
each year, of whom up to 20% die and about 7l?·h are
left wilh pcrm.Incllt neurological damage.
nit: 'Roll B.1ck Malaria' rnrnllaign, launched in 1998,
aims to halw the deaths from malaria by 2010. The key
iT1lerwmions for reducing malarial dedths are preventive
- bed net::., particularly when treated with insecticides.
household in'leClicide spra)'ing - and therapculic
- Ireatment with standard drugs, and particularly
artemisinin derivative" fur resistam strains of l'IllSlJIooiwll
fa!ciparum Allhough tllseeticide-m".ltOO bed nets arc
effective, incre,lsing their usage has bL"Cn problemalic.
I\t prescnt, Jess thlll1 a fifth of children in Africa sleep
under a nel alld as few as 2% sleep under a net that has
been impregnated with insecticide. 1\ growing lhre;11 is
that of fCsistance in the f~ fakipmwn parasite, Chloroquine
rDistanCt> is now the norm in much of Africa and
resistance to sulfadoxine-pyrimcthatnine is increasing.
Combination therd])Y. including ,mcmisinin derivatives,
is likely 10 be Ihe bel>! Slrat'1,'Y, but there are serious cost
issues unless it ;s subsidized. Prcgnam WOl11el1 rail be
offered intermittcnt preventive lrt>aunent wilh at least
IWO doses of al1lirmllarial to redltce Ihe burden of
placental infeCtion and low birth weight.
HIV/AIDS (see atso p. 277)
About 2 million childrcil ,Ire mrrellll'lliving with IIIV,
1.9 million of them in Africa About half a million
children die each }'e,lf from complications of HIV/
AIDS. Around 9()O;O of HIV infections in children are
acquired perinatally. Aboul a third ofperinalally infected
children do not reach 1 rear of age, and over half die
before the age of 2. Progrc::.sioll b generally more rapid
in dlildren than in adultS. l~ecurrell1 bacterial infections
are common, IIIV viral loads lend to be higher and
opponuni"li, inft'<1ion" tend 10 be more aggressive.
I 11\'/AmS is cutting a sw.tlhe through the developing
world, dccimatillF, the population of workillg age
- including hcahhcarc worke~ and schoolteachers
- and le;l\'mg .1 grO\\;ng pool of orphans in the care
of owrstretched communities and the elderly. Current
initiatives include it drive IOw.uds having one agret'd
rMtional III"jAID:-' action framework. one national
AIDS authorily ant:! one country-!L"\·d monitoring
S\'Slclll.
Volunl.uy counselling and 1t'Sling (Vcr) aets as
,lIl entr}' poinl for HIV ple\"Cntiol1 amI Cdre, and is
partirulMly illll")(}nant so thai wOlnen GIn he offered
lre,UlIlCIlt to prevent perinatal mOlher-to-child trans-
mission (p~trcq. Untrealed, the trtlnsmi~ion rate of
\-ITV-l i:. about 35%, About half of lhi~ i" explained by
bre<l~lfeeding, ,mother tranche by perinatal transmission
and a smaller proportion by transmission in utero. Risk
f,lClor.. fur PMTcr inc1urJe new illferliOll in mnthen;, high
pla~rt1,1 viral IO:ld<;, advanced disease, breast problems
and prolonged brcastfeeding. It is also possible Ihal
exclusive breastf..:eding post'~ less of a n:-.k lhan mixed
fceding wilh brea~t milk and Dlher liquids or solids
I here are four imponant ways 10 prevent l\;ITCT.
The first is 10 prC"'E'1l1 iI woman from cvcr acquiring the
virus, Ihrough :.t:lf·dt>:lermination and s,1fe sex In thE'
event of infection, M rei can be reduced b)' operativc
deli..·cry, by proph}'laetir antirctr()':iral therapy, and by
chang~ ill hrea~lfttding pranice. In places where a
wom,lIl reCeives zidon.ldine from 28 wccks' Reslation
onward, bOlh mal her and baby recciw one dOM: of oral
ncvirapinc ami breastfttding is a.....oided, tr.lIlsmission
rales are .1<; low as l°,u.
Llreaslfeeding is the most controversial cunclll i~su~.
AllituJ...~ \ldl)' ~il1Ce, all the one hand, hrea<;tfecding
may lead 10 around 100 000 I IIV infections each year.
and on the other h,md, breastfc(.'dil1K may plcvelll up
to 1.5 million child dealhs ('deh yt:.tr The best analyses
slIggc<;t thalth\? risk of transmission increases b)' aboul
4% for every 6 monlhs of breaslfecdillg.
Strategies to reduce PMTCT of HIV through
breastfeeding in poor settings
• Exclusive bredstfccding during llle fir"t
6 months
• Shortening the dur,nion ofbrcastfccding to about
6 months
• Good lanation management to avoid problems
such as cracked nipples, engorgement tlnd
ma~tilis
• If a lIlolhn d{·.....e lops maSlitis or abscesses, frequent
expression of milk from the affected side (Ihe
mother should discard this milk, continuing
fo..",,'ding from the unaffected side)
• lI<;e of condoms throughout Ihe l,lCt,llion period
• EncoliraKelllenl of rrlolhers wilh All):> or low CD4
count:o. to rt'ptacemE'nt-feed
• Support for replacement fecdillK- if il is chusen
Tuberculosis (S\."'C also p. 2&4)
Somrone in IhE' .....o rld i5 infected wilh c\1}'I.00iJllfflUIrI
1IIb..'rCli/rui5 every second, somco nE' dies from til hE'rOllosis
C\'Cry 15 scconds,md a third ofall deaths are in children.
The WIIO declared tuberculosis a global cl11e'b~ncy in
199). Around 3.6 million cases ,He notified annually
but the lrue prcv<tlf>nce may reach 10 million.
Tubt'rculmis is difficult to diagnose ill rhiIJrt.'n;
s}'mptoms and signs arc Ie!>.') specifir, ~plllllln samples
are hard to g~L and tubt.'rollin lest rE'sponsiveness is
diminished with malnutrition and \-IIV/AIDS. Induced
sputum may be useful 'illd rapid Trell allligt'n leSI<; <Ire
under lridt. Bee varci rk is of variable ulilit}'. J1reduces
lhe incidence of meningeal and milioll'}' luberrulo~i~
by about 7:;% in infanls alld chiltlren and probably
protecl5 ,Igaimt M. le/1rt1c, but dOE"s not reduce lhe
populallon prp\'alence of infeClion
rhe current aim is therefore to Irc<tl infcncd pt'oplE'
through case-finding and treatrnCnI, which will in turn
protect children from exposure. The \\1110 slralegy
relies on diagnosis via sputum sillear Illicro~copy and
shon course din.'Ctly obst'r.ro therapy (DUIS) with a
standardi.tKd rq;imen. In a typICal casc. themp... would
last for 6 months 2 months ofa daily four-drug rt"gimen
followed by 4 rnotllhs of a lhrice-weekly lwo-drug
regimen Pl"t'St'ntl}'. about 3ffi'O of pt-"'Ople di,l~no<;('(\
w-nh I1Iberculosis l\."Ceivc DOTS managclllt'ltI,
·1\\'0 m.lior concerns for tuberrulo'iis COlllrol are
HIV/AIDS and the dt'\'dopmE'nl of mllitidru~ resistanl
lubernllosi<; ("'.IDR-Ill). Developmenl of <!Cli\le luber-
culosis is anylhinj.; from six to 100 times marl" likely in
lhe prL':'>Cllce of 11iV infeclion In sub-Saharan Africa,
70% of people with AIDS develop luherrlllosi .., and
- collversely - pl'Ogressioll uf IIiV/AJI)S .lrrplerales in
lhe pre:o.ertce of lllh..rrulosi<;. IllVjAlLJS also modifies the
clinical picture of IUbercui osis (the 'new lubefclIlmis').
bi:lrapulmonary disea~e is more COllllllon, <;plllltm
smear microscopy ,1Ild luberculin ICSIS are more oflen
negalive, and chesl X-rays often atypicl!. Although
-><
Ul
Irt>illmelll regimens arc similar, case falalil)' ralt'S are
higher, and drug interaClions and adverse effects
arc mort' common "Ihe rise of MDR-TB hdS bo..'Cll
mapped 10 J number at global hOI SpolS in whICh liS
prevalence is O\~r 3%, although in '>Orne areas it rcaches
30%, "tandardi7.•ltion of treaunCIl1 is recolllmended in
order to:
• Reduce the exposure of 0\1 llllH"rCil/(l.5I.' to a wide
range of <1m!}"
• I-nsure drugs are used in combination and nOI ~inl:;l}'
• Oplimize cure ratcs. 155

Neonatal health
Problem-orientated topic:
neonatal health and care outside
the UK
You are representing your department at an
international meeting on newborn health and
care at the WHO in Geneva. Before at"tending
the meeting. you are keen to find out more
about the problems of neonatal health
outside the UK.
Ql. What IS the burden of neonatal disease in the
developing world?
Q2. What are the major causes of global newborn
mortality?
Q3. What are the causes and consequences of
being bom with a low birth we'ght? What risks
does a low bIrth weight present to an infant?
Qa What are the essential principles of newborn
cafe worldwide?
Qs. How might neonatal mortality be reduced In
settings where resources are extremely limited
and there is no access to neonatal units in
hospitals? What Is meant by 'levels of care'?
Q1. What is the burden of neonatal
disease in the developing world?
Of the UO million hahit"S horn E:"Very rear, about 4
million die in tht>: firsl 4 \\'eeks of life: lhe nconalal
penod. A similar num!JCI of babies art: ~Iillborn, i.e.
thL')' dil: ill tht.: laSI 4 IllOlllh~ of pregnancy. About half
a million mothers <lIsa die from the complicJtions of
pregn.1ncr ,1Ild childbirth, Almost <III l11:11ernal and
lleun,lt,llllc,uhs (99%) occur in lo\\'- or middle-income
coumries "llher lhan Ihe wealthy industriali.lCd world,
and about hall occur al home. 'nuee-qudrtcrs ofrlcaths
occur in th..: first week. and Ihe highesl risk is on the
firsl day afu.'r binh.
Q2, What are the major causes of global
newborn mortality?
Clobally the three main causes of dcath are estimaled
to be prCICrt11 birth (2H%), S('\'cre infeclion'l (26%) and
asphyxi" (21 0 o). I\.t':Onal,ll U~l.lnus accounts for ,1 much
smaller proponion of de.lths but is casily preventahle
throogh maternal \<lcciu<llion. Olher infeclions include
newborn SClllica.::mia resuhing from an unhygienic
156 delivt>:ry or poor cord c.ue. and pncumonia. Malaria
exens a more indirt'C1. dfro in pregnanc)' by increasing
Ihe risk oflcw. binh weight and stillbirth.
Asphyxia refers to an impairmenl of exchange of
respiratory gase. {oxyg.::n and carbon dioxide). leading
to neurological impairment in the newborn infant.
Most commonly olsphyxia result~ from a delayed or
obstructeJ l<lbour, or (rom failure of a birlh attendant
to resuscitale or assist breathi nj:; adequately after birth.
rhe best war of assessing the severity of binh asphyxia
in a newboTl1 infant is 10 use a clinical scoring method
to grnde the severil)' of neonatal enceph.llop,ltlly (grade
1. mild; grade 2. modn'alc, and grade 1, sevt're). Ihere
have been few studies on Iht' epidemiology of asphyxia
and encephalopalhy in lhe d('\'cloping \\orlJ, but
thest>: show fresh stillbinh rates afe 10-20 linH:"s higher
than in rich coulltrie.~, that encephalopalhy r:ue$ arc
2-3 times higher, and Ih;'lt survival of moJerately or
severely encephalopath Ie inf'l1u~ is poor.
Prematurity. nuher than growth relardation. is
probably Ihe biggest risk 10 a newborn inf<lnl. Being
born I or 2 months before the Jue date hugely incrt>:,l5eS
the risk of nL'wbom death in communi lies where
special nur..ing care for low·binh weight babies is nol
available AnOlher indirect cause of neon,llal dell! hs is
hypothennia, which occurs throughout lhe world and
ill all dil1l<ltl"~, and is due to 1.lck of kno\'Jledgc ralhcr
th<ll1 lack of equipment. Less than 5% dit.: from other
causes such as jaundicc ,llId hiICtllolytic dise;'lse of the
newborn. It is important to appreciate that a death
may result from multiple causes, and lhe assigntllent
of cause of death in Ihe neonatal period is extremely
difficult.
Direci causes of stillbirths include hypoxia during
labour, asphyxi.l during delivery, infections such as
] 11V, maid ria, 1ll<1lcrnal syphilis and chorioamnionitis,
,Illd congenttal ;'Illomalies.
Q3, What are the causes and
consequences of being born with a
low birth weight? What risks does a
low birth weight present to an infant?
AmonKSt the indifect causes of neonatal and perinalal
death low birlh weight. a weight of less than Li kg
at birth, is the most importdlll. Callst·s of low binh
wciKht arc complex and often stem from the effects
of rowny ill past gt>:neratiOlls. An impOrL.ltll (arlor
is the he<llth and nutrition uf the moth!'r and other
risk faClo~ inrlude untrealed maternal infeclions.
demanding Ilhrsical work. Ihe use of smoking, alcohol
and drugs. and shon inler-pregnancy interv'lls.
low birth weight increases lhe risk ofneonatal death
and also the risk of comphcatlons later in pregnanc)'.
More recently, researchers have identilio:d a link
 between fetal and infiHlI growth and the risk ofdiseases
in ,1Jult life '!ouch as hypenen!>inn, i<;('haemic hean
diM'asf' and diabeH's Programming of fetal physiology
such .1" conisol secretion in response to :.trc:ss, insulin
resistance ,md vascular respon..ivcn..·s:. are thought to
be 'mille oftht' underlying mechamsms
Q5. How might neonatal mortality be
reduced in settings where resources
are extremely limited and there is no
access to neonatal units in hospitals?
What is meant by 'levels of care'?
It is uflt'n believed. mistakenly. that ~ood newborn
care requires sped'lJist units, high h.:dlllology lind
expensive I'l.::.ourn:s. In facl lhe principles of essential
new horn rarc were laid down by Pierre Budin. a Freuch
obstetrician, in 1905 (Box 38.2). These principles can
be implemenled by mOlhers or heallh workers in the
horne or health centre, without access to expensive
technology.
rhe top priority b to mainlain an airw,ly through
c1car.lnce of 'It'Cretions or by laying the baby on his
or her side or in a prone position. Gellllt.: stimulalion
of the baby may initiate breathing if there is apnoea_
Some progr.unme.. have shown that primary care
work('rs or ('Ven traditional birth attendants ran be
trained to conduct resuscitalion of an apnMic infant
using a tuOt' and mask or a bag and mask.
l'he most effecti"-c and reliable way to maintain
body tClllperdturc and prcwnt hyp()(hermia is to
nur~ lhe baby. :.ldIHo-skin, on Ihe mother's chesl the
warml'''' p,ln of her body 11lis has the added ddvanlagc
of improving the ch;lllce of early Im·a"lfceding Skin-
lo-skin nursing Ita... been shown 10 be more effcCliw
than inrllh:ltor management in mainlaining a steady
body tcmper,ltllrc, except in silll,lliulis where the baby
i:. sick or lHlslable.
Ixclusive breastfecding provides all Jlulrilional
needs, protects <I/<;<linst infcction, OOo:.t:; pa~sive immu-
nity lhruugh imtllunoglubulins in colostrum. promotes
theml"l care and bonding with the mother, and
guarantees c.xcdlent growth in infancy. I'lcrc are serious
riloks in formula feeding in poor communities where
BOX 38.2 Principles of essential newborn care
AJ' MaintaIn airway
Wamnh Keep warm
Love Keep With mother
Food Feed frequently. breastfeed
Immediately. avoid pr&-Iacteals
Hygiene Avoid Infection
IIness Treat promptly
BOX 38.3 Interventions to reduce neonatal
mortality
During pregnancy
• Tetanus tOXOid
• Iron and folate supplementation
• InsectICide-treated bed nets and intermittent
treatment for malaria
• Dietary supplements
• Birth preparedness
• Screening for sexually transmitted infections
(5Tls) and HIV
• Anliretroviral treatment to prevent mother-to-
child transmission (MTCT) of HIV
During childbirth
• A companion
• A skilled attendant
• Caesarean for obstructed labour
• Safe delivery kits
• Tube and mask resuscitation using oir not oxygen
• Neviraplne to reduce MTCT
During the newborn period
• Drying and wrappmg; skin-to-skin 'kangaroo
care'; avoidance of eany baths
• Early bf'eastfeeding and colostrum
• Clean cord care
• Antibiotics for infants With signs of sePSIS
• Avoid separation from mother
water :.upplies are lIns,lfe and illiteracy hiRh. !=ailure 10
ItlTive, l}.slroenteritis and death drt.: m.trknlly illcreased
in non-breastfcd illfant~.
Hygicm:: is a critical e1emenl in reducinx perin<ltal
sepsi.. for both mothers and infant:.. ,\ c1e'l1l ~llrface
for delivery, hdnd-w<lshing by hirth attendants Jnd
cle'iIl ctilling of the cord will prevent ;'I I,lrJ.;c number
of unnecessary deaths, A reccnl clu:.lt:r r'llldomi7..ed
en
colllrolJcd trial oflraining n<lditional birth attendants
in l"akistlln showed a reduction in perillat,ll mortality
and a large diminution in perinal,ll.\CIlSis.
The problem in ladding newhorn de.1ths is nOt
-><
that \\c do not know \Vh,11 to do. There <lrc rnany
potential low·(ost and cvidence-based inlerVentions
available to reduce newborn mortalilY The chall('nge
is how to implemcnt these intcrventions on a large
sc.lle, rc,lching out to the families who arc 111051 at risk,
panicul:Jrly those where home ddlVery i.. the norm
and access to obstetric and medical services is difficult
(nox 38 l),
Levels of perinatal care (Box 38.4)
II is important to establish whal should he lhe mini-
mum Sl'llldMds of nue al each It"\'e! of a health system. 157
 BOX 38.4 Levels of perinatal care
Level 1 Home/domiciliary/traditional birth
allendant
Level 2 Health centre/small hospital
Level 3 Large district hospital
level 4 Regional referral hospital
World I~ank studies show that, in most developing
countries, marc than 90% of \\'Omen living in the
poort:st quilltile of households deliver thdr babies
at home, uSll:llly with only a relative or a traditional
birth attendant. The care provided at lewl I is therefore
eXlrellldy important if neonatallllortality raIl'S an: to be
reduced. In India a comrolled, though not randomi7.£d,
trial showed that mortality fell by 62°,'0 in villages where
a hOlTH'-haSf"d Cilre package was introduced involving
traditional binh atlendant training. health education
and the usc of village women trained to deten and
manage neonatal sepsis using injrrtable antibiotics in
the home. In Nepal, a cluster randomized controlled trial
of a participatory intervention involving women's groups
addre,ssed maternal and newborn hedhh problems in a
large rural population. The women's groups showed
aston ishing creativi ty and sel f-orga nizi ng (;1 p01ci Iy- They
d":\'doped tlH.:ir own delivcry kits. slretcher schemes.
emergency funds and disnlssion groups using picture
cards for illiterate women. After 2 years, even though
h..:alth services remained WCdk. newborn mortality fell
by one-third and maternal dealhs by three-qllart~rs.
The COSt of Ihis demand-side intervention was just
~O.7S per head.
@ htlp://www.child.ich.ucl.ac.uk
UCL Centre for International Health and Oellelopment
Nutrition and malnutrition
Causes of malnutrition
Malnutrition is l:'sscntially the end result of the
interaction nf lh ree factors: diet, diseases and ("ilre.
Diet
Diet01ty intake should be O1ssessed for macronutrient
and micronutrient content and quality. Macronutrient
intake (0111(.'5 from .arhohydrate, fat and protein;
the protein:energy ratio should exceed 1SOlo. l'vlicro-
nutrients come from specific foods such as green leafy
vegctabks and carolcll..:·cuntaining fruits for vitamin
t\, meat for iro11 and fish for zinc. Poor dietary intake
158 is caused by:
• Ill1u}equalR nurriliot1all:mrnllerise: parents/carers
may not know what foods children need. Peer
culture and food tdboos ar..: afft:ctcd by commercial
preSSll res/ad vert lsi ng
• Pomny: nutritional knowledge may be adequate
but poverty prevents parents/carers from
purchasing foods that enable siltisfa'lory growlh
and health of children
• Poliric'll faclOrs: \vars prevct1l access
to food.
• Psycl1ological faerors: O1norexia nervos01
(til",
..., http://ivacg.ilsi.org/
International Vitamin A Consultative Group
@ http://www.sphereproject.orgl
Sphere Project Training of Trainers courses
Disease
Illnesses such as pertussis, otitis media. inflammalOty
bowel disease O1nd cystic fibrosis and infections such
as lnberntlosis, HIV and persislent diarrhoea are
often complicated by malnutrition. There are several
mech01nisms:
• Poordiclmy it/wile: painful mouth, rough
and systemic infection (leading to elev01ted
inflammatolY eytokincs that cause anorexia)
Ixe\·ent ildeqnate food illlake.
• Mrl/a/isorpriof1: persistem didTrhoea (e.g. in
coel iac discJse and Giardill infection) causes
ltldlabsorptiull uf fat anJ fdl·sulubk vitaltl ins.
Iligh-laclOse diets contribute to diarrhoea in
clinical lactase deficiency.
• Increased llurrielJl rn/uiremenl.l: energy expendilnre
is increased in systemic infection by ilround 10%
for eitch degree Celsius rise in body tempcrmure.
• Metavolic respo/lses: inflatlllllillory response
causes reduclion of plasma levels of
micronUlrients including vitamin,\ and zinc. and
liver transport proteins such as dlbumin
and relinol binding protein. Catabolic responses
cause muscle breakdown and increased urinary
nutrient loss.
Care
Lack of time and/or compassion le01d to inadequate
nutritionJI intake. A poor sociJI environment at home
where nurturing is absent. or dn unsuppurtive feeding!
nutrition culturc in hospilill/c1inic causes rnalrunrition,
especially if the patient hJS anorexia.
Diagnosis
C~nain malnUirition syndromes haw spt:cific clinical
signs such a'l se\'t>:re malnulntiOn (previously called
prOlein energy malnutrition) or deficiency of vitamin
.\, iodille or vitamin D. Howt."\"CT. the majorit)' of child-
ren ha\T sulxlinical malnutrition
@ httpJflndorgs.virginiaedulicciddl
International CouncIllor the Control of Iodine
DehclElllCy DIsordefs
Subclinical malnutrition
Diaio;nosin~ this (onn of malnunilion requires the use
of dlHhl'OpOlllctnc measurcmclll~ and blood assays.
Interpretation ofbloo<.1 assays in 'Iubdini('~llllicronutrient
malnutrition is difficult because of the \-arialion in plasma
]t'\'c1s of mkronutricllts such as retinol or zinc that
occurs III infl.1mrnation. Evidence thai a micronutrient
deficiency is present in a population comes mainly from
trial~ of micronutrient interventions, which have shown
the Impact of vitamin" deficiency on eye disease
and monalil)' and the impact o( zinc deficiE'ncy on
diarrhoeal disease and mOrLllity. Lven children with
Sdtisf.lnory anthropometric indict·s {weight and height
against intE'mational standards (or their age) may haw
subdinicalmicronuLrient malnutrition
Severe malnutrition (SM)
SM is defined as the presence of pMa! oedema or
severe wasting (below 3 SD weight for height standard
or Iwlnw 70% median weight/height stJlldard). '111ere
are sewr:!1 c1inicill syndromes:
• M(lfll$lIll1S is duracterized by severe visible wasting
with lark of body fat and lo~ of muscle Illass
around the arms, bUllOCks and thighs.
• KU'lulu"Ql'kof involves severe pedal oedema,
,onu::limes spreading all ovt:r tlu: body and often
associ:ued with cracking of the skin; there lTlay be
discoloration oflhe hair in kwashiorkor. Plasma
.. Ihumin is lower in kwashiorkor than in marasmus.
Causes
• Poor diet.uy imake of energy, protein and
micronutrients
• Precipitating infection such as measles. persistent
diarrhoea. tuberrulosis and III\'
• l..drly cessation ofbreastfreding
• Psychosocial stress within family.
Clinical features
• Poor resistance to infection. especially pneumonia,
diarrhoe.l and tuberrulosis
• Ilypothennia
• Ilypoglycaemia
• Dehydration: often under-diaKllosed in
kwashiorkor because of illlerslilial fluid and over-
diagn~ In marasmus b«ause of loss of skin
e1aslicity
• Metabolic problems: decreased inability to excrete
sodium adequately and tendency to de'velop fluid
overload. leading to cardiac failure.
Pr-evention
Improving household food security, nuuition knowl-
edge ;lIld carl' in poor communities is vital. a~ arc pro-
moting family hygiene and sanitation, ensunng immu-
ni7...1.tions and deworminl1,. encouraginJ.; carly lreatment
for childhood iI1ne.se. and pl'Oh.:cting ,hildrcll in
adverse circllm~tances. including poliucal crises, wars
and famines.
Management
I. Illjfjfl/ $/tlvili:Ul/i(l11 phaj<! (1-7 days) This involvcs
treatnu:nt of fluid ,lIld elcctrolyte imb.llann:
and sepsis, corneal ulceratIon due III vitaulln
A deficiency. severe anaemia. hypogl)'caemi.l
h)'l>othermia and infection. [nf..."Ction'S arc difficult
to diagnose on clinical grounds, as signs art' less
striking in S!l-I All children wilh S.\I should receive
d broad-spcctrum antibiotic. Refl'Cding starts .....ith
small frequem meals of low osmolalit)' ;tIld low
lactose providing around 75 kcal/kg body weight!
dOl) until oedema dears.
2. rail h.up grou'lh. TIl is rt'quir\.'S at!ea"t 100 kcal/kg
body weight/day for at least 2-6 weeks AVOId
o\,cr.fIXxling. which may predpit,lte Gudiac f,lilure.
(IS(' low·"odiulll rellydratioll solutinn.. (60 mmol).
Multiple micronutrient supplementS (\\1110
formula) :HC added to the fecd. Once infcction is
rontrolled and lhe child is gaining wl'iglll, f('rrou~
sulphate may be added Oral vitamin A should be
given on admission.
1, r~llmj'-llp. It is important 10 mainl,tin an adequate
dietary lIltake once the child i~ 011 home Ready.to-
use ther.lpeutic feeds can be made up using local
-><
Ul
mixes of ground nuts. sugar, oil and micronutrients
in heat-sealed bags, which Gill be gi\ien to Illothers
during regular \'isitS to the nutrition unit for
checking that weigh I gain is maintaincd. Sensoly
stimulallon and emotional suppon are imponant
to ensure recO\"Cry of child d~"Clopment. Rates
of weight gain during the rehabilitation photsc
can exceed the normal (I gfkg body weight/day)
for children betwttn 1 and 5 years. Weight g,lin
of at least 5-10 gfkg body weight/d.ly ~hould be
achie\'Cd, S'\ is increasing.ly precipitated by IllV
and antiretroviral dmgs rna)' be used 159
 Table 38.4 Deficiency syndromes, their causes and management
Deficiency Clinical features Prevention/treatment
Vitamin A X(l(ophlhalm,,~
In severo casos MJng0, papaya, yellow sweet potatoos, carrots, p<llm oil
Night blindness
Reduced immunity

linc Sutx::linical deficiency commoo Fish and meat

<J)
Q) Acrodermatilis ooleropathlca Attent,on to cooking methods to reduce phytale levels
'C Thiarnirl€ Beri-berl (perIpheral neuropathy and cartliac failure) Thiamine i.m. for beri-beri
1:~ Ribofl.Jvin Angular stOlTliJtllis Avdd oV8Heliance en cereals
o Anaom~ Ribonavin orally
u Nacin Diarrhoea, dermatitis and dementia Varied diet

'"
.5
C- Vitamn C Clir1ical signs rare lScurvy)
Thiamine orally
Ensure fruit in dl€t and avoid excessive boiling 01 vegetables
o2 Iodine Go~ro.intoilocTualloss Supplement with ooine to combat deficiency in sdl

">
Q)
'0 1m'
Poorgrmvth
Anaemia in severe cases
Trool w th iodized sa"
Meat eating
Irnp8Jred psychomotor developmerlt
.5 VitalTllnD Rickets Ensure adequate e~posure to l"Jht
.s:
'"
~
FoliC acid MegakfJastic (lfIaomlJ
AtrophIC glOSSitis
Troot WIth fdic acid

"
.s:
:2
---~---------

.s: Deficiency syndromes BOX 38.5 Other names for children in difficult
(J circumstances
Di~c;J~e or di~;JbililY lIlay arise a~ a result of a number
of specific deficiency syndromes or a combin;Jlion • Children in especially difficult circumstances
of mulliple deficiency disorders. Table 38.4 lists the (CEDCs)
major femmes of deficiency ~yndrolIles. • Children in special circumstances (CSCs)
• Children in need of special protection (CNSP)
,\-lore detailed information i~ given on the
website. • Children at risk
• Vulnerable children
@ http://www.ennonline.net • Orphans and vulnerable children, made
vulnerable through HIV (OVe)
Emergency Nutrition Network
http://www.who.inVchild-adolescent-health/
The major groups generally rla~sified <IS CDC arc:
pUblicationslCHILD_HEALTHIWHOJCH_CAH_
• Children living and working on the ~treel
OO.1.htm
• Child workers
Management of the chIld with a serious infection or • Orphans (usually now defined as having 10S1 one
severe malnutrition or both parents)
• Children jj"ing with 11iV
• Refugees and migrants
• Child soldiers
Children in difficult • Sexually abused and exploited children (including
circumstances (CDC) those involved in pro~titution and pOTllogmphy).
Some countries am! organizations would also
Who are children in difficult include:
circumstances? • Children in CU$todial carc
The term 'children in difficult circumstances' describes • Children of imprisoned mothers
a number of differenl categories of children who. as • Child/Jdolescent mothers
the n"me implies, Iive in difficult or extreme siLUations • Child carers
Thc terminology in this <"lIea "aries between countries • Children of sub~tallce-abu~illgparents
and organiz<lliolls, somcthing you need to be aware of • Children ofparel1ts with learningdifticulties.
(or Web searches. '1 he Olher names frequently used for 'Illere is, however, considerable overlap between many
160 CDC are shown in Box 38.5. of these groups. For example, nearly all street children Jrc
also working children and being in one group makes
a child \'Ulnerable to olher forms of exploitation. For
example. orphans arc more li"dy to cnd up living and
working on the street or in child labour, and girls in
domestic service are panicularly vulnerable to physical
,md sexual ,lbusc.
\\t' ~hould not a,>sutne. however. Ihat <lifficult circum·
.st,l~ .1I'e .1lways harmful to children. Children respond
VC1)' difTcrcntly to adverse arOlmslilllCC5. Somc dlildrcn
g.lin ~tl'Pnglh and I'P'Illience a5a result of adWr.>l:' situations.
1"01' many the circumstances will be the nann in lheir
experience. ror cxample, many childrcn in poor com-
mt11lilit.~ would expccl to work througholll childhood
.1longslde their pccrs.
How many children are involved?
\-Ve know tll.1t huge numbers of children around lhe
world call be rlilssificd as CDC but it ill vcry difficult 10
e~timat(' a0I1:l1 figures for several re:lsons·
• In the countries where lhe numbers arc greatest,
infOflllollioll collection systcm.:'> drc lI<;ually vcry
puor
• I\lany of the acti,'ities of CDC are illegal and hence
hidden,
• \'ovenuTlt'Ill.:'> art' not mOli\'ated to reveal real
figures, ("'<'ell if they had lhem, for fear of criticism.
Furtherlllore, where figurt.~ Me a":tibble, they are
mrelydl",lggregaled by age and sex, which Me both key
determinJnts in lenns of vulncrability. exploitation and
risk of long-tum damagc. ror eXiHllpk, it may be quite
acceptable for a 16~year-old to work on a plammion.
but il is certainl)' not acceptdble for a 6-ye.1r-old.
So. <lltllOUgh gloh<ll and natiollill estimates should
he trealed with caution, they do give ~ome indication of
the maRllitlide of the problems. Some offici,ll estimales,
11Minly sOllr~cd frOIll UN org,H1izdtioll~, tHe shown in
[)ox 18 6.
An inlluclltiJI UNICEF report has helped us 10 under-
~tand lhc impaci all childr('n of war alOIlt'. The report
(ll"-lI(:1-I" 2(00) looked al lhe effITt of wars from 19BG
to 1996 and found that:
• 2 m childrcl1 wcre killed
• G In children were injured
• 12 m children were made homeless
• > I million children were orphaned or scpilnlted
from tlwir parents.
What are the causes of difficult
circumstances?
f:lcarly tIlt" Cdll'WS are multifactorial ,mel will vary by
silll<ll1on and COUlllr)'. The major c.luses are:
BOX 3806 Some global estimates for children in
dIfficult circumstances
• 210 m children aged 5-14 economically active
(International Labour Organization (ILO) 2004)
• 110m children aged 5-14 Involved In hazardous
or intolerable labour (ILO 2004)
• 10-100 m street children (depending on
definition) (United Nations Children's Fund
(UNICEF) 1998)
• 10m ch Idren involved in the sex Industry
(UNICEF 2003)
• 300 000 children used in armed conflict OLO
2003)
• 14 m children have lost one or both parents to
HIVIAIDS (Joint United Nations Programme on
HIVlAIOS (UNAIDSj 2004)
• I 'ow'ny
• Disruption of(,ullily and support ~YStl'lm:
Conflict
- lIrhani7.<llion (mralto urban rnigr.uion)
- Children separaled from families 10 seck work
• Deficiencics in thc cduall iOllal s)'MtOm:
illdcc€'~iblF?, lillaffordable and poor -quality
schooling
• [neft<.'Ctivc cllfol'{"cment of rc!t-"\'<int Ill;l~latlon.
What is the relevant legislation?
[n mOSI C()IlI1lnt's thi'i is based on the Ul' Com't'lltion
on Ihe ~ights of the Child (UNCRC, 1989). °nlis
has bttll a highly inlluential documenl in defining
lighls of .,11 ('hildr~t1 (d~fined as under lhe age of
18) around lhe world. All but two COUlltriCS (thc liS
and SOl1lali.l) h<l\'c riltined thc COIl\'t.'1l1ioJ1 <llld most
have illcorporaled much o( the contetlt into tMtiot1.11
legislature.
The lJNCI~C has 41 ankles, which ~t'l ~t.IIl(l;mls for
the right~ of all children to survive, develop, Ix> pro-
tected and panicipate fully in socicty. Ankles illclude
guarantees of:
• Health, f'ducation and carl'
-><
U)
• PrOlecl ion from violence
• Protection from <.'Conomic exploilaliotl.
-111cre are also imponant optional protocols on
im-oh-cmcnt of children in armed conflict ,lIld Iht· sale
of children for proSlilll1ion and pomogral)hy.
Clearly many govemments cannOI RUarantee these
rights. p"nly because of resource con~tr.tiltl.s, bUI all
signatory coul1trit.'S rcpon 10 Ihe til' O)lIIlI1iuee on
the Rights of Ihe Child and they need 10 demonstrJte
progress <It least tow.uds meeting the obligatiolls and
standimh in U NCRC 161
 @ http://www.unicef.org/crc BOX 38.8 Potential health hazards of child
labour
Full text of the UNCRC
General
• Exhaustion. abuse. loss of educational
Examples of CDC opportUOlty'
<Jl
'Ihere are dearly many CDes in the UK, but here we Agricultural work
."c:
~ are Roing to focus on the two largest groups from a
glob,tI l>ers.pcrtiw: working children, and children
• Injuries, pestiCides, paraslhc diseases, heat
~ Mining/construction
o who li\..., and work on the street.
• ACCidents, respiratory illness, musculoskeletal
"c: problems
'"o
.0. Working children Manufacturing
Child labour is defined by the ILO as all economic • Injuries, hearing loss, exposure to toxins/solvents
Qi ,1Clivities carried out by pcrson:.lc:.s tban 15 regardless
> Domestic service
"
1J
.£
of their ocrUJlilt iOllal ~t;HU~, t:XC~pl household work in
the p:lrenl<;' or carers' home. An estim:lted 110 million
• Physical/sexual abuse

childrenllnder the age of 15 (or 20% of all children in Street work

.c: the age group).He involved in <;01l1€ form of economic • Road traffiC accidents, violence, substance
'"'" activilY Around 120 million work full·time while the abuse

"
.c:
1J
rest combine work with some form of education. The
highe<;t prevaknce of child work i<; in sub-Saharan
Sex work
• STIs/HIV, violence
.c: Africa, where around 40% of all children are primarily
• Loss 01 educational opporftrlity leads indlt9C1 y 10 poor
() involved in work. This compares with around 25% in
Iong-Ierm health, partly through Iowet earnIng poweI", lower
Asia and 12% in Latin America. SOCIOeconomic SI;r.us and lower health knowledge. nus health
disadvantage is now kfIooNfl to extend 10 me next generallon.
What work do children do? The edueahon 01 "'-'OmefI15 partJcuIar1y importanl in ImpfO'II1Tlg
The major categories of child work are ~hown in hea Ih outcomes for children.
I~ox 1f1 7.
Agriculture is dearly by far the most common form
of child work. and children in rural areas are twiet: intcrvcntion. Harmful in this contexi means work
as likely 10 be working lhan ,hildren in urban areas_ Ihal i<; liI..ely to harm the health, S:lfel}' or morals of
Agricultural work ranges from (usually unpaid) work children. Clearly the heallh of childrcn is crucial 10
on f,llnily land to plantation work within the formal this definilion
scOOI.
Child labour is a necessity for many poor families, What are the health effects of child labour?
who rely 011 the incomc or help pluvided by Iheir There is poor evidence of hartn 10 ht.:alth ill many
chili.lrt·11 to survive, This Llel is (lcknowledged in the sectors of child I"bour (panly because of lack of
legi<;I.ltivl" framework for child labour, which is based ~}'~l~matic rigorous studies) but wc CMl malIC certain
on the UNCRC. \-vhat the It:gisl,lliull now recognize<; assumptions (Box 38.8).
i~ Ih'" 'llmlition of child labour i<; not realistic in the
fore<;....ahle flllllre, but thai policy approaches should http://www.ilo.orglpubliclenglishlsupportl
instead target work that is harmful to children for earlr pubVchilwork.pdf
'ChIldren al \>\'ark: Heallh and safely Risks': a good
summary of the potenlla! health hazards
BOX 38.7 TrPu of chIld work
Three final poinl.'i demonstrate the difficuhies III
Agnculture 70% trying 10 improve conditions for children who have to
DomestiC w()(k 15% work-
Manufactunng 8% • Workplace regulations often apply onlr 10
Transport 4% cmployee<; in the rannal S4:':ctor and mOSI children
Construction 2% work in the infonnal S4:':ctor.
Mining and quarrying 1% • I.lecause children arc 'not allowl,.'tl' 10 work there is
(Data from 26 countries, ILO 2003) oflen no Icgi~lation to protect chem from the more
162 hal'A1rdolis t:lsks
 BOX 38.9 The two types of street children BOX 38.10 Street children in the PhllipplOes
Children o( the streets • Population c. 87 m
• Street IS the chIld's home • 2.4 m children on the streets
• Seek shelter, food, companionship among other • 70% go home every ntght
street dwellers • 5% complelety abandoned
• Abandoned, orphaned, runaways • 25% Intermittent home support
• RelatIVely small numbers, probably less than • 5.5 m children (aged 5-14) in the labour mar1<et
10% of the total
• At least 500 000 girls under 15 in domestic
Chiktren on the streets service (llO 2000)
• Have family connections • 60% exposed to hazardous work: 20%
biological, 26% chemical, 51 % environmental
• Go home (family/extended family/caring adult) to
sleep
• Just work on the street
• $ubSI<lllCt: tnbll~t:: alcohol, lobacco. cannabis,
cnr;lin(> ;md especially solvents
• For the same reason proto.:ctive dOlhillg ilild dt:vices • Mental disorders
ilrc o(ten simply 110t made in child si7es. • Violence
• Poor nlltrilion
• Limited access to hcallhcare
Children who live and work on the street • Sl1s/IIIV
111is is tht: IHcfcrred term (or what llsl!d to he known as • Pregnancy.
street childrt"n (although strl!l!t children is still used as Pregnancy has led to the phenomcnon o( a second
,) shorthand). They are defined as children who Iiw or generalion on th~ streets of many cilies
spend time on the Slri."CLS, "upporting lhemsehoes and!
or their families through various occup'ations, and who A country example
are inadequately cared forlsupcrvisi.:d~' caring adults. 111C Philippint'i is d good example ofa country with large
111.: reason thaI lhc t'Stim.Hl'S of their numbl!rs numbers ofworking and sueet children (Box 38.10).
vary hllgply (from 10 to 100 million) is panty because
of the different classifications used. TIley arc usually
@ htlp:/Iwww.ilo.org
dividt.-o into t\\'o catcgork'S: children of the sm~ets and ILO; InternatoonaJ Programme lor the ElimlnatK)l'l 01
children on Ihe strt>:ets. The characteristics of the [wo Child labour (IPEC)
groups are shown in Box 38.9.
TIle l<llgc~1 numbers o( strec! children are in L.uin
@ http://www.Slreetchildren.org.ukl
Amo:rk... (an c~timatcd 40 million), followed by Asia An e~celleol starting point lor informallon on slreet
with 30 million and Afric.l with 10 millioll. Roys children
olltlllllllbcr girls by a factor o(arollild 10 to 1
@ http://www.ucw-project.org
What jobs do street children do? The Understanding Children's Work. group, a
• Bcggillg
• It,lwking to pedt'Slrians. motorists
• Directing vehicles to parking areJS (or a tip
• Cu.uding \'Chides (or a lip
• Sellillg drug"
@
collaboration of the ILO. UNICEF al1d lhe World Bank.

http://www.unicet.org
Usefullnlormation about all types of CDC; now
UNICEF collects specific dala on child protection
-><
en

• Penycnme
• Collcclin~ paper/rubbish
• Shcx' shining
• Girls: moslly begging and prostilution.

What are the health risks for street children?

• 1nfenious disease, especially ~asuointcstinal
disorders and skin condilions

163
m
<
m
Z
 Stephen Hodges Susan Bunn

Gastroenterology 39
and hepatology
Learning outcomes 167
Diagnostic investigations 167
Enteral and parenteral nutrition 173
Acute diarrhoea 173
Vomiting and regurgitation 176
Chronic diarrhoea and malabsorption 180
Acute abdominal pain 183
Blood in the stool 185

Liver disease 187

.. •
By the end 01 this chapter you should:
• Know and understand the basic science of bowel function
• Know and understand the common methods for investigating the gastrointestinal tract
• Know and understand the causes and management of common paediatric disorders
affecting the bowel
• Know and understand the investigation and management of the common liver
disorders.

be[\\'t,,-cn Cellues. GenNal principles and applications arc

Diagnostic investigations
III asse:.sing a child for g,I';;Ifointcstinal rondilions a
careful .lnd thorough hlMory and examinalion is crucial
( h 5).
rhe teslS undcnako:n GlllthclI be <Ipproached S)'S[~ma­
(iGllly. Blood tests may be helpful, but abnormalities aw
uSll.llly non-specific and not diagnostic. A diagnosis will
generally be confmncd by a series of rclt"''<llll tests or
larg(·I~·d therapellllc trials.
All ide,lltest is sensilive, specific. simple. inexpensive,
safe. non-invasive, convcllknt, <!cceptilhl,' to Ilalients
and slafT, objeclive, f('liilhle and amenable to serial
ll1e<lSlIrelllt"nts 10 perrnil lh~ assessment of therapeutic
intervcntions. There arc 1\0 sudl tests ill pdcdi,mic g,\stfO-
cllterology. so a number of tests aft' oftell used and
tho'>e chosen fOf a specific clinical scenario may differ
di~nl~St'd below til
m
Oesophageal pH monitoring
Oesophageal pH monitoring permits the a~wssmelll
<
m
of the frt."qucncy and duration of oesophageal acid
exposure and its relationship to symptoms. A pll study
monitors intra-oesophageal pH, usually OWl' a penod
Z
of 24 hours. II can be combined with heart rate and
SaluT<llion monitoring in a young dlilJ to inwSligate
whether respiratory CVCIlL,> ,Ire associah:~d With g.Htro-
oe::mpllagc(11 reflux (r.OR).
A pll study is a safe test, but it is illV<I~i\' ... and
keeping lhe probe in placc llIay be difficull in IOddler~
and uncoopcriltivc ch il(lren. It should therefore only be:
undertaken ihhe results will influence: llIdli<lgclIH'111. 167
 IlH' ,est is performed by ,h(' trnnsnasat passa.gc
of ,1 miu()(']ectrode containing a I'll sensor inlO the
lower OCSOpIMgUS. Its position is usually confimled
T<ldiIJlogiG\11y. 'I he child i.~ cilrouraged to cal, Jrillk <11\(1
continue as near 110rl11:\1 activities as possible during
the study. 111e time of <lny drinks or meals is recorded
'>0 thai their dTecl 011 the study can be assessed. If
,.Ill? study is being performed to see if other clinical
features arc .Issociatcd with COR (coughing. abnormal
movements, crying. paill elc.), then the child or carer is
asked to record the lime of any of these events during
lhe study. The I'll data are recorded on 10 a portable
recording device. frorn which they are downloaded Oll
10 a computer and analysed by software progr<lmmes.
Usually a gr,lph of intra-oesophageal pll against time
is produced, on whirh meals and 'clinical {'vents' can
be shown (Fig. 391). 1ne 'reflux index' (the pernO:T1lage
of Ute study in which intra-oesophageal pi I is < 4)
e~timalL~ the IOta I acid exposure lime and b considered
the mmt sensitive and specific measure. A reflux index of
up 10 12% inlhe first rear of life and up to 6% thereafter
is considcroo normal. I\n abnormal reflux inde.x is found
in 95% ofchildren with oesophagi tis bUI the reflux index
docs not correlme wilh the severity of ocsophagitis.
Additionally. il should be remembered lhal nOl all
children with significant COI~ haw oesophagitis. ·I1H'
time taken for <leid to be c1e<lred from the oesoph:lgus
afler a r{'flux episode Gill also be assessed by a pll sludy
•lS a proxy for oesophagealmotiliry.
Limitations of the pH study
It is nm a diagnoslic test for GaR, as any cause of
vomiting can cauSt': an abnormal study. Likewbe, a
negative test docs nOl exclude COR, as only acid reflux
l'pi~ude~ art~ deleeled. Postprandial GaR in particulM
is missed. as the g<t'>lric acid b buffered by foooslllfYs
Jnd the reflux,llc tends to havc a neutral pi!. 'Ihis can be
ovcrcome somewhat by using a dual probe technique
(a lower and upper pll probe, the lower probe being
placed in the SlOmach and the upper in the lower
ocsophagu~ - hellce times can be idenlified when
thc inlragdstric pll i<; ncuml1 and COI~ would nol be
detected). Some cemres also advocate thal one feed
wilh a rdatively low pH (usually apple juice) is givcn
ovcr lhe Mmly period so that an increa~e in postprandial
reflux c.1n be identified
Situations in which a pH study is most
helpful
A pll study is useful in dctennining whether symptoms
such ,IS p,lin, crying and abnormal movements (Sandifer's
!>yndromc) arc as,'lOCiatt.'<i with acid reflu;.: or whcther
168 GOH could be cOlllributing to airway complications.
It also has a place in assessing the adL'CJuacy of acid
suppression in chiklren who remain symptomatic despite
being treated with a proton pump inhibitor (prl),
Radiological contrast studies of the
gastrointestinal tract
Radiologiall con1raSl studies of the gastrointe~til1<l1
lTaet play an important role in assessing a child wilh
gastrointestinal symploms. but like the pI I sludy lhey
:lIsa have their lim il"1 ions. All involve a sigllificam r,ldi,I-
tion exposure. and some are invasive and llnpleas.lnt for
the child. Before requesting a COntra!>l sludy camidera-
tioll has 1.0 be given as 10 whelher it is the best tCSt
available to answer Ihec1inical question posed. Contrasl
studies are paniclIlarly good at aSSL-'Ssing for ,matomical
abnormalities causing syrnptoms. 11,,: comlllonly used
contrast studies and their more lIsual indications arc
summMized in T,lble 39. I.
Hydrogen breath tests
111e principle ofthe III breath teSI is lhal anyundigestedJ
malabsorbed sug..u that reaches a part of the g.lStro-
intestinal trdet that has organisms within the IUlllen
(mosl usually the colon hUl also the slll<lll bowel in
slllall bowd overgrowth) is then fermented by the
organisms, producing 11 2, whidl i!> excreted in the breath.
·11110' breath III monilor is a Sl1MII hand~held device into
\\'hich the older child simply exhalcs. In a younger dlild
breath can be col1cett.-'C1 by the use of a face mask. Hrt:<lth
11 2 is plotled againsl time from carbohydrate ingestion
on a graph. '111e normal small bowel transit lime is
considered to be approximately 2 hours, such that
an increase in hrealh 111 at ba~e1ine or before 2 hours
suggests small bowel fermentation and overgrowth,
and aftef 2 hours colonic fennenlation due lo sugar
maldigeslionJmalabsorption
If sugar maldigeslion/malabsorption is suspeCted
(for example, laclose). then the candidate sug.u is given
as :In mal bolus <lf1er fasting. "1111, sllldy would ~tdn
with two baseline readings :ll -30 mins and 0 millS,
and then the ~ug"r is administrated al time o. Brealh 11 2
is measured every 30 minutes for 3 hours. I;ib'llre 39.2A
shows a nonnal 11 2 breath tesl in red, where there
is no inCf('ase in brealh 11 2, as no significant amount
of Mtgar has reached lhe colon. ·l1le results shown in
blue are an abnonnal II! breath teslthat suggests sug.1r
malabsorptionfmaldigl.---:>tion. as ulCre i~ an increaSt:
in brealh 11 2 :lncr 2 hours when lhe mdldb~orbt:df
maldigcsted sugar is fermented by colonic baCteria
Figure 39.2R shows a lactulose H! brealh lest. \"hich is
the preferred test forsmilll bowel overgrowth. As laclulose
is a non-absorbable sugar, in a normal child the pallern
 pH
90 •• •• •
'0
7.0
60

"
'0
30
2.0
'0
1342 15,00 17.00 1900 21,00 23.00 1.00 300 5.00 7.00 900 11 00 1300 1442

Period labl'
• EpisOOes of chest ~Irl
Item Total Uprighl (chest pain not related 10
DUfBliOfl of period (HHMM) 24:01) 24:00 reflux events)
Number of aCId retluxes I') 31 31
N~ of long acid .efluxflS
Longest aCId re'lwt
I~
I~)
0
1 ,
0

TIU t '1'18 pH below.4. 00 ,~) 12 12

Fraetoo line pH bllkr,Y 4 00 1%, 00 00

pH
90
80
7.0
60
50
'0
30
20
'0

23.42 1.00 300 5.00 700 9.00 11.00 1300 1500 1700 19.00 21(1() 23.00 0.42

(f)
Period table m
"'m
Dur.lton of pe'iOd (HH:MM)
'2340
ou' <
m
NI.wrbef of aCId reftuxes I~ 392
~ 12 long acXl r9&Jxes
Lorge3l acJll re"ux
I~
(rrIn)
28
37
Z
ToliIIlIme pH below4.00 lmo) 603
Fl3etion tiMe pH bekr«4 00 1'1 ."
B

Fig. 39.1 Results of a pH probe.

IA) Normal pH study in a 12-year-old boy with episodic chest pain. His chest pain is not associated with his lnormall
reflux events; (B) pH study in an 8-year-old child with neurodevelopmental delay, showing severe gasuo·oesophageal
reflux (GOR). She has a reflux index of 42.4% end poor oesophageal clearance of acid, shown by numerous 1000g acid
reflux ellents, the longest being 32 minutes. 169
 Table 39.1 Radiological contTast studies
Contrast study
V oeo/'lul:Wo$CO(ll'
Part of GI tract ellamined
OraPnatyfIX
_......,
Indications for use
~ f~CW1Q aspta".JOrl on

As:sess'OO"lt 01 ct d's abr.y to

Cooditi0n'3 identified
~pasi
PseJdo..-tUbar palSy

-
swa tOw d "(rOOt COf'5isleroes 01
~u!Cl!'ood s.Jldy

'"
Cl
0 Rrixn 5\\13 loW" ~l8gUS Oesophageal pouchesi\',ebsl
0 To inl"6Stlgalelracheo-oesophagrol 5tf1clures!l sluloo

1il0. fistula
Barium meal OAsop/"1aglJS, stomach and RBCUrrl,lnt \fOI'tllting H.atlJS hortll"
III duod8rom Gastric outflow obstructron
~
Malrotaliofl (l' dJo<lon<lI jelwnal
tJ IleXl.re to ri(tl1 01 midllI1l
C
III 8...".,...m rTleaI and Oesoptagus. stomac~. To 'd8rt'l~ presence of smalllx\wel Small bowel erom's disease

'"
Cl
0
IoIow ItwoLJ!il ().;ooerUTJ )eflJIll.6ll and i!e\,m Crctvt's d sease
Partial smaI lX7NeI obst'lJcil.'€
s,'ITlp:oms
SmEll bowel SlricllfiS li.18 to
Crotms dsease or ~.SlJgeo;

0~ "'Ole: 1TIllges are rot as good as

III 'I. th srr.al-1X:Jweo oort:ra51 s'udy
~
C Srrdl-txw."2' s~dl' Doodenlll'l. ep.n.rl.lOd oEUll To dent!)' snllln to.-:e C'Ohn's c sease Sma. bowoI CrotYt's d1'3663e
III
0 (1eq..we5 duodenal Partial smaI bowel obsll1.JC'm Sma; bow& stl1CU'OO due to
~
..,tubbuon~ s,rnp<""" Crohn's disease or post surgery
1ii Contrast enema Rectum E1nd cdon To reduce In1l1ssusception
III
Cl (theraPflI.JlIC)
Very rarely used diagnostically in
children

"[
"•e "
"[ JO

"•e
c

~
~

5
~
~

•
2Il

.,
, ,
/' ~

~
S

•,
•
m
21)

10

-JO , JO SO go 121) ISO 180

-" JO 60 go
Time (mirlUtes)
121l ISO 180
Time (minutes)

[ - - No slJlIaf rralab5~.on (normal msl) - - &.gar mal<ltJsorpOOn )

l
- - Abnormal
Str.aI bowel O\ergrowth
I
A B
Fig. 39.2 Hydrogen breath tests.
(Aj A nonnaf test (red) with no sugar malabsorption, and an abnormal test (blue) when malabsorbed sugar is
fefTTlef1ted by colonic bacteria, increasing breafh hydrogen; {Bllactulose hydrogen breath test showing a normal test
(green) when the non-absorbable sugar is fermented by colonie bacteria, increasing breath hydrogen, and an abnormal
test {purplel when small bowel organisms fennent the lactulose, producing an increase in breath hydrogen prior to
sugar arriving in the colon (double peak sign).

i~ ,IS shown in Figure 39.2A; the gl'eell lille is I>CCIl as
the non-absorbed l<lctuloM: is furnCllh'(! ill lhe colon
However. in Figurt> 1')211 the purple line shows .111
,Ihnormallaetlliose hydrogen breath test wilh an early
170 peak. SUAAcsting lhat thc sugar is heing f.. nnented by
org:H1isrns in the stnOlIl bowel, and Ihe second peak
when the lactulosc rCdrhcs the colon.
BOIIt false positive and false negative hydrogen
breath It'SI resullS can occur. False positivi.' l"1.-,:>ults.He
seen with inadequatc pretest f01slingor rt'ct~nt smoking.
Table 39.2 Serological studies
Antibody Sensitivity
gA €Il'ldolTl','SiaI':''lhbod,' IlgA E'.v.; 8<H>6~
gA tis9lk t'BJ'sgIularr 'lase an:body
'IgA tTG)
I"iA ant<;jktdn .....bod'lllgA AGA) 8HlO<.
IgG ar"'1fJladn a~:l!:JG At:3N 7~""
----
faist, nt:gative re'mlls Gin be seen aflE'r Ihe recent use
of ,1ntibIOlics, in patients with lung disorders or in the
approxim.lIc1y 1% of children who arc 'null-llydrogen
produccr,,'. Or<ll bacteria m,,}' lead to all l;',irly hydrogen
pe,lk and pretest mouth-washing with an .lntiseptic is
advocated by some units. The 1[1 pe<lk occulTing from
IMrlnial ovt.·rgrowth in the (li.stal small inlestine lll.-ly
he diftiCli1110 discrimin,llt' from Ihe normal peak seen
when lhe lest sugar rcaches the cololl. Addilionally.
rapid ddiwry oflhe lest ~ugar 10 lhe colon in paliellls
with shon howel syndrome may lead to false positive
results.
'Coeliac antibodies'
ruur M:rological studies have ocen described 10 i'lid the
diagnOSIs of c~liac disease (l~lble 39.2).
Senull IgA endomysia I and tissue tr.lnsgJut.lIllinase
antibody testing han: tht: highesl diagllostic accur.tcy.
'111e 18'\ and IgG antigliddin antibo<ly teslS lid\-(' lown
diagnoSliC .lccur.l<y, with frequem false positl\-e f5ults.
,llld are therefore no longer recomlllended fur initial
diilgnu~lic n7l1uation or sch'('ning. All are k~ i'lCCUrale
in children under 2 years of age.
Ihe serum ,lI1tibodies commonly used in testing for
mdi;H di~eil~t' iHt.· IgA ilIld thercfor(' ,.11 haw high falst'
l1eg;llive r.lle,s in IgA deficiency It shol1ld he remem-
bered th.1t the coeliac populalion has.l hi~hcr ratt: of
IgA ddi,iclKY IlLdll lhe nOll-coeliac pDpulatiull. Thus
if nwli"c disc.lse is c1inic"lly stlSpeCll.'d and senlm
antibodies Me checked, [gA deficiency also needs to be
cxc1udt:d. NDlIC of the scnllll antibody lests hilS 100%
~n~itivity and specificity ilnd therefore a small bowel
biopsy is alw.1}"'S needed for a definitive diagnosis.
Lik(.·wi~c. whcn there is a high <kgree of clinical sllspi-
cion a small howt'l biopsy nuds to be pcrfonned. t'Ven
wilh negalive serological testing
IgA endomysial antibodies
Endomysial .lntibodies bind to connecti\~ tissue sur-
rounding smoolh muscle cells. Serum IgA endomysial
antil:HXllt"> pnxlllct' a charaClerislic sti'lin ing pattern. which
is ViSU.llil..e d by indirect immunofluorescence. The test
resull is repurted simply as positive or lIeg.1tive, sinn'
even low tiues uf ~crum IgA endomysial anlihodies arc
Specificity specific for coeliac disea~. The largel antigen h.ls been
9' 10Cl% identified as a lissue transglutaminase.
95-97~
Anti-tissue transglutaminase antibodies
lnzyme-linked immunosorbcm assay (ELISA) ll'!its
for IgA al1ti·tis::;ue tldllsglut<lmina.,e <Illlihodit's arc
nm" widel}' available and are easier to perfoml and
less costly than the immunofluorescence aSSdy u:>cd to
dctecllgA endomysia! al1libodics.
IgA F\1J\ 19A rre; and 19A ALA le\.'pls f,lll with
treatment; as a result, theSt' ass.JyS (an be used .1S,) non-
invasive me,lns of monitoring the rc~ponsc ,lilt! adlwretlct'
10 a glulen.frt't' diel.
Testing for Helicobacter pylori
J I. pylori can be identified by histologic,ll ex.1Jllilldlion
or on GIIIIPI'lubtld('r-like organi~m (00) It"ling of
mucos.,11 hiop~ie~ collt:C1ed at upper gaslrointestinal
endoscopy Ilowe...·er, non-invasive tests hdve .1 role
in diagnosing H. priori infection dlld confirming
cradic.llio/1 aftl-'r trealmenl
Urea breath testing
H. p,lori hit!> thc clIJ.:yme urease, which conWflS llrt:a 10
ammonia and bicarbonate and then c.lrbon dioxide.
Ihe presence of this enzyme in the slomach ill .1 chill!
with H. p"lo"; inft."Ction can be used di,lgIlO'ltiGl1Jy via
a slable isutolle brt'ath lest. In children, ure,l labelled
with e" (non radioactive) is adminiSlered .aftcr fdSl-
ing, usu.llly with fresh orilngc juice 10 dd.-ly gdslric
emptying If II, /If/or; i~ preseTHlhe ure:l is hydrolysed.
relc;,sing ell t;,gged CO!. which can bc detectcd in
brealh samples. Breath i~ mlle([cd and 'JllalyM:'d by
ma~s SIWCtrOIllt.'lIy ell is a nalurally occurring stJbk
isotope, <;() it is Pf(>,*,1'll in small qu.1I1titics in lhe breath,
but thcre is an im:red:.c if ii. PJ~ml illf(.'Clioll is pft.'St'nl in
U)
Ihe stolllilch. It'll' If'SI is bolh highly sen!'>iti\'l' (> 900,i,) and m
specific (> ()')%) I low('\'(-'r, the test becomes less scnsiti...e
(has a high rate offdlsc ncgaLive» if uSl..'d \\ithill il rnomh
of antihiotic therapy or while the child IS laking II!-
<
m
blocking agents or Pl'ls '10 pre..'ent false negalive
results. Ihe child should nOl haw taken :llltibiOlic" for
Z
at leasl 4 wl't·k" and anlisecrl'lOl)' agents for ,1I le.lst
2wuks
H, pylori serology
l..aboralol)·-b.lse:d serologICal testing lIsing EUSA 10
deteel IgG or IgA antibodies is incxpcmi\'c ,HH.l widely
<I\71ilable. L<If~W sludies haw found uniformly high 171
 Table 39.3 Common indications for upper gastrointestinal endoscopy and colonoscopy in children
To diagnose macroscopically or histologically
Upper GI endoscopy Reflux oesophagltis
Oesop/1ageallgastr~ vances
Gastritl3lgastr~ Lker (GU)
Duoden'tis/duodenal uIccr (DU)
H, pylori inteehon
Crohrfs dISeaSe 01 upper Gltract
EnteropathteS IIlCIudlng coeliac disease (F'9 393)
Lower GI endoscopy Polyps
Inflammatory ~ disease
senSitivity (90-1000/0) but variable spedficiry (76-%%).
HOWl,.,·cr, the positivc and negativc predictive valucs of
Ihe test relale to the pr~t~sl probability of II. pylori in
the population being studied. Generally, in children
in thc UK where the prevalence of H. pylori is low,
a negative test is helpful to exclude infection, bm a
positiw serologic,'1 test is more likely 10 be a false
positive. As a resull, it is recommended that secondary
testing (me;'! breath test, stool amigen testing.. endo-
scopy) is used to confirm the initial result before
initiating tredtrnenl. H. pylori serology does usually
bt-come negative after sllcce~sflll eradicdtion treatmelll
but serocolwersion is sIO\". Serological testing is
therl'fore not useful for follOW-lip since many patients
continue to havl' antibodies for months or even years
after successful eradication therapy.
Stool antigen assay
The prcscnce of H. prIori in the slOol of infeaed
patiems has led to the d{.'vclopment of faLTal assays. A
commercially av;~ilable enzyme immunoassay is avail-
able. Ihe sensitivity and specificity of this test are 94%
and 'JO% rcspcclh'Cly when compared 10 endoscopy
:md urea breath testing. The ~tool assay has Ihe s..1.me
limitalions as the urea breath It..''St regarding false nega-
tives after antibiotic u~ and add-suppressing drllWi.
Confirmation of eradication after treatment
Confirmatioll of erndication is required after treatment
for II. pylori and is f.1.cilit:lted by the availability of
accur.ltc, relatively inexpensive non-ill\'asivc tcsts. Urea.
breath testing is the t~t of choice lO ronfirm eradication
of infCClion. SlOol <1l1tigen testing is an altern<ltive when
urea breath testing is not available, but it is less accurate.
Upper gastrointestinal endoscopy
and colonoscopy
These arc important lests that are useful both diagnos-
tically and therapeutically. I iowever, they arc invasive
172 and in most centres are performed under general
Therapeutic procedures
Ditatatiorl of pept~ strictllra
Sclerotllerapy/baooing of bleeding varices
BIeed,ng cootrollfl bleeding GUIDU
tnsertJon of leeding gastroslomy
Passage of nasotellIl8I tltle
Removal of polyps
anaesthelic. Complications .ue rare but colonic perfora-
tion can occur at colonoscopy. Additionally, rolono·
scopy requires bowel prep:tration with laxatives,
which mOSt children find unplcas"nt. Hence, thl.:¥ Me
only used in ~decled cases when the symptoms are
sufficiently severe, a tissue diagnosis is needed or a
ther:lpeutic procedure Gill be performed.
Common indications for upper ga~trointestimtl
endoscopy and cololloscopy in children <Ire listed in
Table 39.3.
Pancreatic function testing
Pancreatic function tests Cln be either direfl or indirect.
Direct pancreatic fur1Clioll tesling is considered the
'gold standard' but is rarely performed. as it is invasivc
and requires intub:ltion of the duodenum. Duodenal
secretions are :lspirnted after pancreatic slimulation by
intr<:wenous cholecystokinin and secretin or a Lundh
lest meal (meal composed ofstand<lrdiz~d nutricnt~).
It allow~ bicMhol1:tle, .lmyl,lse, trypsin and lipase to be
ass<lyed separately Olnd there arc clear normal ranges
for comp<lrison.
Several indirect (noli-inv.l~i\'C) teSls of p:mneatic
exocrine insnfficienc)' have been developed. Of the
available tests, Ihe most commonly u~L'{1 arc f;wcal
chymotlypsin and faecal £I.l~t<lse nleaSllrcrncnlS.
Faecal chymotrypsin
Fal'cal chymotrypsin is easy tu measure and level..
are stable in stools for several days. MeasuremcllI
was frequently used in the past as a screeninF,test for
pdnucatic insufficiency. However, !e\·cls are usually low
only in advanced pancreatic disease and the sensitivity
for pancreatic insufficiency is therefore only 50-60%.
Additionally the lest cannOl be performed when the
child is taking pancrc:ltic enzyme replacement therapy.
Faecal pancreatic elastase
Faecal pancreatic elast:lse L'Stimation is now the mOSt
widely used test for pancreatic exocrine insufficiency.
 Fig_ 39.3 Endoscopic duodenal
mucosal biopsies

Nornal dooOena mtJCOS<l

WIlh tal, fnger4ike ~ and
crypts of normallengttl

Almost total villous 31rrlphy

ifl achild witll coeliac
disease ......1Il eIongabon of
me crypts an naease In
dl'U'Iic ll"lI1afronalay cells
<If'd lJsorgatl.zabon of the
en:e1X~1e 1a','9t

ThE' p.1nCreJlic enzyme. elastase I. is stable during
intestinal transit and is mea"urab1e a:. f<lec:ll daslase_
Arter 2 wceh of .lge il h:'ls :'I high sensilivilY in the
dl:lgno~i" of moderate and sen:re pancrciuk insuffi-
cicncy. The lcst ha:. ,I scmilivil)' and specificilY of 'BOlo
for panClealic il1~uf(I('it:Il(Y In :'Iddition. its values
Me independenl of pancreatic enzyme replacement
therapy and call therefore be used while lhc child is
tdking 1>iIllCrcatic CIIL)'IIIl:' supplemellls
Tests of fat malabsorption
Ifthc clinical history suggf'SIS "ignificalll fal malabsorp-
110n (<;t(,";ltorrhoea). then a variety of tcsts can be
employed to identify whether steatorrhoea is j>R-r.elll.
II0IH:\'cr. all the It:sts hilve limitations and :lre nOl
uniwfl\:ll1yavailable.
Currently. the gold :'ldndard (or diagnosis o( :.le<110r-
rhuc,1 is qwmtiwlivt' t"ilimation of ~1O()1 f:lt. '1he
mt>tho<! mosl commonly used for the measurement
of faecal fat is the titrimetric Van de Kamer I11clhoo. In
,1I.1ull:>. tilC test jn\'Olvt:s a dici conlaining lOO g offal for
3-5 days Stools coll~ro O\yr 72-96 hours are: pooled
and refrigerated. In children. lhe collco.ion Ixriod is
usu,dly 3 days. Children find il diffirull 10 adhpre to a
strioly regirnemro diel anrl therefore a careful dictal)'
record is required to Collculate the mean dai1r f..u illlakc.
Steatonhoea is present if morc than 7% of ingf'Sloo £u is
cxcrt-lt'tl. though infant" under (. months call excrele up
10 15% ofrlietal)' fat due to the physiolORic.ll immaturity
of the p,1I1crcatic :'Ind bili<1ly .~ccrclions, De-pile it heing
the oilly quantil,lliw le~' of fat excrelion, 72-hour stool
collection is rarely used in children. as it is cumbersome
,111d unpopular wilh f,uniIiL'S and 1.100r:llory staff
QlI,llit:llivc (subjectiw) tt":ts are more commonly used
and f(lera! Sudan III staJlllllrjmicroscopy and f,lOOt! acid
"le.1Iocril$ are lhe most widely available. SUJ,u1 III Slain
on a spal sample of slool C<lll JctL'Cl more ,h,m 9()Oro of
palieilis wilh clinically "'gnlfic:llll stcawrrhoe,l, but it
need" 10 be properly performed and intcrprclt'd hy :111
expcrienced asSt.-ossor. 111c .Kid slc<llocril i" rerformed
rather like a haematoCTit on a spot stool So.1.mplc and
giw<; the percentage of the stool thaI is COI11POM-'tI of
f.lt. It has a sensitivity of 100%. "pt'Cificily flf '):;0:0 and
positive predia.ivc value of 'moot., :\." compared to lhe gold
slandard 72-hour faecal fat collection.
Enteral and parenteral
nutrition
1'01011 or supplemenlilf}' nutrition C:'lI1 IX' given vIa
diffCI'cnt routes. cnlC:>C route:. ,mel their :ldV.1nt.1ges,
JiSildvillllages ilnd indic.11 ions arc shown in 1:1blc 39,4.
Acute diarrhoea til
m
Diarrhoea is one of lhe mOSI common c.1uses of
morbidity and monaliryin children world wide. \\.'orld-
w;M childhood death sccond.ary 10 diarrhQ(.. a dL-clinoo
<
m
from an estimated 5 million lJl'r year in 1980 10 less
lhan 2 million in 1999 l'he decline is .lttributcd to
Z
glohal Improvements in So.1nitation and the use of oral
rehydration therapy (Ch. 38).
Basic science
Gut immunity
.[ he g.1.slrointestinal mUCOSo.1.1 immune syslem protens
lhe mucosal surfaces (400 11l~ 'mrface area in adults) 173
 Table 39.4 Enteral and parenteral routes of nutrition
Route olleed 'Anatomy' 01 Advantages Disadvantages Common Indications
feeding route
[lnro(oydWd

As_
Oral sip '€6ds I'\D l.be ~ Asa~'11C'il'.Y1'lEit'lq
Nooo::t!: 'D I<OIik>iEI ~rne"ts or poor appeue, e,g.
cystIC ftlrosis OohfS G ~

'"
Ol
0 1\.JSOgaSt-c Tlbe pos::JeQ ... .a nooe E8s', to place ald to F'lacerrent ll1CO'Tlklrtabte
CfQl...,-S doowe
CI" ,(j camol t.Jkc fIJI roqu 'O"lEW'lts
0 to :>l:J"Tllid1 relno:e VIsble on lace d.If' '0 problems SO::'CrI!}"swallc-... ng.

1ii0- C¥I bel ..IS-feed fa"

cor"."C.-..eo::e
EaS)- 10 ~ or remo"6
acdde<l'.a!ly
e·9 CIf" fl;'I :rfl;, neu'Odisab r:y
()i.o camot 'iIkfo fIJI roqu 'O"lEW'lIS
Ql Can CQOI "UJUSI feed Ha<.e to et'leco< poSiton clJe 10"ass IY r> gn ~ s ,
£ oe'ore USIf 9 e.g bronctiol~iS, cara ac tl sease
"tl Blocks etlS ", Ct1 d needs cor'th..Jous feeding, ego
e s€":e-e GOA, &lOr! gut
C1l
Nasote JOaI Tube passed \l1!i I'lOSe RoIalrvE1~ rosy 10 PlacemeollJ"'lComtortabie (Jllid CKCCSSl...ety \'Ofl"I IS gastriC
'"
Ol
.Q
10 Jejunum
""~
Difficult to pbce and ollen
has to bo p....sscd under
contCl1tS, e,g, s("'VCfe GOR 01
gastroduCKJcflal dy:;motillly
e
Ql
X-ray scrocning
POSltKln (')lecked by X·ray
Child has pUIll,;rootot'5 (intragastrk::
bxhng cauoos stlillulation 01
~
p<lIlcroat;1
e
Ql Gaslrostomy Tube IOSCflod <.It Discreet Needs general anaesthetic Ct1ild reQlIinng r'nfl(Iium, to long lerm
0
~ """'=PYa Ol1icult to puN oul lor illtJi:lI Jlsert on IlUtnllOl"lal support
1;) suglcalty rrto occidentl)jy Riso<.s 01 iltlCll surgery
C1l <;torra::h ItY:'1L1lj1 Po:; :JOn does flot Locul Jlluet.oos
CI atx::lomInai ,',a11 need to be chec><ed

0.,....-""" -lbe placed Stn! caIy Do<_ 'lood<

"""""""" Urll)$l,,<JI1eed ng 'oute taJa 'y used I"
r:o~... ll\ <l D"tIcL ! "0 O~ :l~ lor ......t..... nsert on chid WIth gastfOO.Jodenlll <tJSI'l'O"t~i
abocml".aI;,aI aoc:ic:ier"aJly Flis.<s 01 " I..... Sli'gEI'Y '~1g ~ :0 long toon
Pos ion does not ocaIlI'lfectoOnS nutnhonal SUODOrt
need to be d1eco<.ed
Parentcml

-~
Intra'<9'"'Ol.IS rU:r-rt on Easy '0 plac:e Short-toon as en (j .....""cse {Po' CMr'l()t be used 'or
g~....a~em1 UTOfT1X:IrA l:!O:lS corrmco fIJI "'"'1'ual '~S. ego
~. _'a 1111 0011 0 aity pos~.St6Qe'Y. (bng chemotherapy,
:and too,.,'Io'o gU:::ose
conkflll 01 parenteral """'''''
S1lOl1.-te'll1 nu:rtlooa SUOPOI'! wl1 e
nutrz(.on a,',aitog CVI... plac:emeol
Usu;;J1ty JlUdoouale to!
full nulrillon.alreQulfements
Ccntral Intravenous nulritlon Secure access NMrif; to he pI:lCOO lJI"der Child whooo OU' cannot be uOled lor
given \I~ central Can grvf! high glur.(}l;f! general aMesthellc full nutrillonolrOQU1ro.llOllls, e.g.
venous line (CVU concentrations and GVI f>APSi~ fl m-'!jm risk IXIS1 SUfgory. dunng CllOmOlllerapy,
lull nutritional short gil!
requ rernents Can be used Iong·term

rrom harmful im-asive org;misms, but olso has to
suppress immune responses 10 food antigens (up to
sevcrnl hundred grams per da)', dcpendillgon age) amI
Cllllllllensal baneria. I"herefore, even under completely
physiologic,Jl conditions, the gastroinh..'Stinal trnd
cUlItdins enormous nllrnb..rs of leurocytt"S diffusely
S("atl('red in the lamind propria and the intraepithelial
companment. or organized in the Peyer's palChes and
i~olatcd lymphoid follicle~ of lhe rolon. Combined,
'hey fonn the bJUf-associated lymphoid tissue (GALf)
In health 40% of lymphocytcs in the body are present
in the gaslroiruestinal mucosa and Gt\IT.ln~ majori,y
174 of ttll'lll produce dimeric IgA antibodies. At binh, the
gut-associated lymphoid tissue POS~C<;'M.'S tilt:: In'cessaT)'
cdls with \\hiell to seT\~ i,s funnion, but having ne....e r
mel foreign allligens. it lacks certain clements found in
later life. Full maturity is lIot achieved for up 10 2 )'ttt5.
Water and electrolyte absorption
In healthy adults the small intesune is pres;,>med with
approxima,ely 8 liues of Auid each day. l11is amount
includes both ingested liquids and gaSlroimestinal
secretion,',. By ,he lime 'he initial Shtres offluid reaches
the 1leoc:tecal vah'e. only .lbout 600 ml rr::mains and by
the time this reaches the anus, only about 100 1111 of fluid
 05mOlic
Villous

""

•
Stool volum.: Very targe
Responce to
lUling: D'ilrrl'loe<l stops Dlafrtloeil COl1Mues
Stool osmolality: Normal to Increased ,""mO
Ion gap: > 100 mOsmlkg • < 100 mOsmikg

Fig. 39.4 Moin intestinal absorptive/secretory processes

for electrolytes and glucose Fig. 39.5 Summary of features of osmotic and secretory
diarrhoea

remains. TIll: effiricmy of W<ller <lbsorptlon in the sm.lll
<lnd lal),..... inU.'stinecombined is approximtltely99%.
Ine nonn,ll absorption of e11..'Clrolyles, glucose and
wah,'f h shuwn in Figure 39...1.
In til(> villous cell .'Ja/l< adenosine triphosphatase
(AIVasc) maintains;} low intracellular 1"-:01 concentration,
thus allowing the 'downhill' t"ntry of 'a, coupled CI
and nlltrit'nl~ In the crypt cell the low 1'01 concentration
dri\'e'l a carrier in the ba50lateral lllcmhmnc coupling
the 11()\~ of om.' Nil, two Cl <Ind one K from Ihe se:rosal
companm~nl ;nto Ihe crypl cell. As OJ. rt"suh. CI
accumulates above its e1ectrochcmical equilibrium
and undcr phy:.iulogical drcumstanct'~ leaks into the
ga~troinll'slinill lllmen across a semipermeable apical
membrane, In health the absorplive activity in the
villous cdl far exceeds the minor M'crt'rion frOIll lhe
nypls ,mil tIll' net resull is absorption of eledrolytes
<llld IllHriems Waler absorption then passively follows,
m.linly through the intercellular tight jUllctions.
ACUle di;lfrhCH.'iI is the abrupt onset of increased
nuid content of the stool above the normal valu!: of
approximately 10 ml/kg/day. Diarrhoea is the reversal
of the llOTllMI 111'1 absorptive Stille. 'Inls can be due to
an o~mOtlc force a("ling in the lumen to pull water into
the gut, as seen in sugar malabsorption (rig 195).
'Illis diarrhoea will stop on fa'>ling It can also be due
to an active secretory stale induced in the cnterocytes.
Secretor)' di.lrrhoe.a continues on fasting. The most
common cause of .secretaI')' diarrhoea is infection, and
different enterotoxins and inflammatory procl..-:;.ses
affect the transpon of electrolytes in different \'v"ays. ·1 he
classic cxounple is cholt'ra enterotoxin-induced diarrhOE";l,.
in which there IS enhanced anion secretion by the crypt
cell and an inhibition of the NatCl ch,lrlllt'1s in the
,lpical cell. 111C consequcl1Iial increase in electrolytes
in the go'll>! roinlt'stinal lumen not only prC\'enl:> pilssi\'C
W.lter absorption but also rL"\'crSt.."l> watFr transpon,
causing \~ater loss into the gaslrointe<llin,lI traci and
profu'lC watpl')' diarrhoea 1n(' glucose/'J,l Iran:.porter
is usually unaffecled in infectious sccrctol')' diarrhoea
explaining the c:ffica{"y of oral rehytlration solutIon.
Infective diarrhoea in the developed
world
Approximately 1 in 50 children in dt'\,t'!oped nalions
are hospitdli.tcd for arute gastroenterilis some time
during rhildhood. More than 95% of this risk tKrurs
in the first 5 years of life.
Viral infections <1ft: lIlost common between G and
24 rnOlllh~ of <1ge, after lI"ansplacel1t:d alllibuJy i:.
cleared and breastfeeding has sloppcJ and lll'fore full
acquisition of )JI'Ult:ni'v"c im munit}'. tn
B,u:wrial gaStrO€'meritis is more cornman in the
m
first few momhs of life 'lIld then agdin in lIchool.age
children. Most baclerial gaslrO€'tlleritis IS due to foOO-
borne IMthogells
<
m
Problem-orientated topic:
Z
acute diarrhoea
Karen, an 18·month-old girl. present9 with a
2~day hi6tory of non-bloody diarrhoea. She
i5 pa55ing more than 8 5tools per day. She
15 pyrexial and vomiting but drinking well and
not dehydrated.
175
 Q1. What is the likely diagnosis and the most likely Q2. How do the clinical features help with
pathogen? diagnosis?
Q2. How do the clinical features help with
diagnosis? See'l:lbJe 39.6.

Q1. What is the likely diagnosis and the Vomiting and regurgitation
most likely pathogen? Basic science
rhO" frequE-ncy of pathogens isolated in cases of Though \'omiling can occur due to a wide range of
childhood spor.tdic diJrrhoca in developed counlries stimuli and causes. regardless of the initiation, lhe
is shO\\1I in T.lblc ~?". complex vomiting 'reflcx' is identkaL TIlcre are three
stages 10 \'omiting:
• NmUi'/I- a feeling of wanting to vomit, often
Table 39.5 Frequency of pathogens in acute diillThoea associated with dutonomic efft."Ct~ including
Pathogen Frequency hrpcrsalivatinn, pallor and swearing 'Ihis phase
V_ is ac;sociated wilh dccreast'd gaStric motility and
Aota-.TU& ,"-""> retrogr,lde propulsion of duooellal wlllents inlO
"""""',
Astrol'ir.;s
'-""
'-""
lhe stomach.
kXY'lo'.'i'Us 2-4" • Retelling· a sHong in\-olumary e(fon to \'omit
Noro.1n.Js :NOrwB.-<-ike ... rus l.Jr*nO'Ml during which the glottis rcmain~ closed and there
Bi.K;~.a
is rontrartiOIl oftht' diallhragrn and abdominal
c..r:Pi*X>6r;;ler Jf!I/Jfw
...."
:>-7"
muscles.
""""""'"
~.;.»
3-0"
• VOulIrlllf(. the expulsion of g<1:o.trk contents through
lhe mouth after relaxation oflhe cardia and lower

"""'"
Y6rSIfIla Of"lYOlXWtCl
Oosrrnum cf'f/Clle
0-0"
0-,,,
1-2%
oesophageal <;phincter and sustained comr,Ktion
of the ahdominal muscles.

!'was""
Cryp!osporKium Hl"
The lllt.ochanbm:o. of provocation of vomiting are
<;ul1lmari/ed il1l"igllre He,ll should be nOlcd thai the
G'wC*8 1urT/bJliJ Hl" presence of an anatomically discreet 'vomiting centre'

Table 39.6 Clinical fcalures 01 pathogens

Pathogenesis Predominant site of action Infective agents Clinical presentation

Ooreet cytopathic ellect
Pro~imal small Intestine ROlavirus CopiOus wutCfY dorrhoca. Vomitll1g,
Adenovirus mikl to $Over-e dehydrahon; frequent
Calicivirus I~looo malabsorption; no blood in
Norovil"llS (Norwalk-like vin..I<;) Slools
Enteropalhoge!1lC E. CCOi
GIardia
Small "",tOStine VibiJoo choIerae watery dlarmoaa lean be copious In
EnterotoXJgel'lIC E. col< (ETEe) cholera or mG): no blood in stools
Entero-aggregati\oe E. COlt
Ctyp~,

Irwasi';eoess Distal ileum and colon

""""""'"
S'ligalla
[),oS(J1IUY WYy frequmt sll;lCis.
cmrnpt;, pain, f~ <rid oten blood
\1:!rs.01!iI In <;100IS \t<lriable ~ation
Ca:npoj.obac1ar Ccuse m~1 bo protracted
En,e'o-ilYas .,'e £ co'
A"""""

-
~1otcxic.r,- ~dof'de [),oger1tery. aodo'1Wlai C7~. 'e'.-e-.
EnteO'Qhaerr1o.rrog.c E """" ,~EC) blOOd n S'..oo/s EHEC ~ ~
rnay t:e follo,".ed oy~­
\.Wilen c S',,,d.OfT'l!
176
 ,Hcmrones J Problem-orientated topic:

I T_
--\! VestiWlHlcl.,.
regurgitation

J06h. a 4-month-old "OY, present5 with

Sliw:atm regurgitation of 5mall volume5 of hi5 milk
' -_ _•• "'...... "",,> ..._ _--J1 feed6 over 20 time5 per day. particularly in

/ \! Vagal
the hour after hit'; feed. He i5 otherwi5e well
and thriving.
Vagal
afferent
Sympalhetic
\
Sympathetic
affer811t Q1. What is the most likely diagnosis?
( /~ alferenl afferent Q2. What investigations are indicated?
Q3. What treatment would you consider starting?

Q1. What is the most likely diagnosis?

Gaslro-OE'SOph,lgeal reflux (GOR) is thl' il\\'uhllllal)'
u-rilalion or dis~1\SIOO
of stomach I cwl!enum reuograde now of gastric content:. proxinl.1l1y inlo
the OL'SOptUgus When the 1}1stric contellls re,lCh
the mouth, this is termed regurgitation. Hoth arc
commonly seen in in(,\I1\:'. Hoth regUrgitAtiOlI imd
Fig. 39.6 Diagram summarizing the vomiting reflex
GOI~ .He cffortles.~ <llld <In' not preceded by IhlllSe.1.
(CTZ • chemoreceptor trigger zonel
<llld retching The physiology of GOR is sllI1lIll.\lilcJ
in Figure 39.7. Infants .1.l\d children with COil hilvt'
norlll.1l rcsling lower oe'\ophageill '\phinner pressurt'"s
but uelllOIlSlrate spom,lIleous relaxation of the lower
in thc l.lteral reticular furrnation of thi': l11i':dul1a is now oesophageal sphincter. It is 1101 dear \\)u:ther this
question~, but there is cenainly a central process that is a local or centrally lIu:dialtXI proce<;.S Ihe drop
functions as a \'omitinR centre. in the '\phinner prt'ssure precedes a drop in intra-
·!1IC chcmoreceptor triggt'r wne (ClZ) lies outside oesophageal pi!. indicalin!; renux of gastric WlllelilS
the hlood-brain harrit>r in the floor of the founh into the oesophagus (p. 167) 1111" rf'flux of g,lSIJic
wntricle It is stimulated by proemetic "gCllls in thc comellt" into the distal oesophagus is nOI c,lused by
blood or cerebrospinal fluid. 'Iablt' 39.7 Sllmmarl7£S an increase in gastric pressure (as in vomiting), as the
the effoos of amiemetlc medication, intrill{itSlric pressure rcm"in5 unchanged.

Ul
Table 39.7 Drugs used to control emesis and their mechanism of action
Drug group Indication Mechanism m
AnI hiSlMl n9S Mol on sickroess <rod mid etoemothcmpy "C1UOlXl
~"'"
l...ab)nhin8 supp'essIon ~La ant~ e'foct
H .eoeo!.Of 1I'1tdgOf1osm in \OO;lIng cet"'m
<
m
5U:lS~lJIed betlzamides D.,-receptOf t:b:Xadcul thcClZ. In hrgtl Close has
Z
-,
e g. Mctodopramde 5-HT <lC.Nrf'y" 1110 gut
5-HT rocep!or a'l".agonGlS 5-HT --ocepror blockad"-c.-~-c. -IT-""--:"""'--:-.C""':--",--:-,-

-
e g, Onciansetron bu1 possbIy some ~ect in CTZa-d VOrrrlf1!J oontre
Central GABA iTlIU :ior. p1'lXt.Jclng seda:ion end
e,g, lorazepam
Rarei',' usedn children because of e><lrapyramio:'1.'ll D,-rac.J€1)lor block.Jdc lit the ClZ
llicle-ef1ects
Bo.J!yrophmones Ch«ootherapy. gostroPllfC~, GOR D_ ·receptor blockadl'l1l1 me smertc norvous system
sg_ Domperdone
177
 Clinical pTcsentaliofl of gastro-uesophagl:<lj reflux
disease (CORD) in infants and children is shown in
pH Table 39.8.
8

,., Oesollllageal
Q2. What investigations are indicated?
OJ 4 Many clinicians recommend a Iherapelllic Hial of
0 pH
trealmen!. rather than investigation. IfGOl{ is clinically
"0 suspected ,md treaunerll will be irnplelllented. even
~ 0
C- with a negative test. then the test should not usually
Ol (mmHlll be performed. If investigations arc indicatcd, then the
"
"C
C
50 invt'slig;nion chosen depends Oll tile clillieal question
asked ('fable 39.9).
,.,
t1l
LOS 25
OJ pressure
.Q Q3. What treatment would you consider
ew 0
1 starting?
~
(mmHg) A general algorithm for treatment is given in Figure 39.8
C
W 50~
and a SllrnnlalY of the "ction of acid-blocking dlUgs ill
0~ Box 3').1.
N.R Cow's milk protein intolerance may mimic COR.
m Gastric 25 and a trial of hypoallcrgenic forrnul<l may be hdpful,
Cl pressure panim];nly when there is a strong f<l1!1ily history of
alapy. Even in families without atopy it is usually
0 recommended before surgical intervelltion.

-
Specific management of clinical
Fig. 39.7 Simultaneous measurements of intra·
oesophageal pH, lower oesophageal sphincter (LOS) scenarios
pressure and intragastric pressure during an episode of
gastro-oesoph<lgeal reflux An infant with uncomplicated reflux ('happy
puker')
Features of excessive 'physiological' Diilgnosis is made on histOly and cxamin<ltion. No
regurgitation ;n infants investigations are indicated.
• N~lural history: improves with age Reassurance without any other specific intervention
• Improves on wcaningand all becoming more is usually sufficient. Other treatment options include
upright when walking feet.! lhickeners. Re-ev<llu<llion shuuld lake pl<lce irSYIllP-
• Iksolution in 80% by 18 months, and in 90-95%. lams h'orsen or do not improve by the time the child
hy 2 yl:'M~. is 18-24 months of age.

Table 39.8 Clinical presentation of gastro-oesophageal reflux disease

Infants Children
ExceSSM3 regurgrtation Vom~ing Vomrting
GrO\V1h faltering Growth faltering

Oesophagtis Ilfitabil.ty with feedings Heartburn

Fcooing refusal Chest or abdorntnal pain
Arching Dysphagk'l, odyr.ophagla
Haematemesis. anaemia HaemalernDSis, anaotnia
Sandi/Sf'S syndrome

Apr.oooJstridor Aspkation pne<Jrnonia

Aspiratioo pneumonia
Laryngospasm (apnoea, stridor)
Apparent Iffe·threatening events
Sudden unexpected death in infancy
178
Brorx;hospasrn !asllHTla)
Laryngospasrn (apnoea, stridor)
Hoarseness
Table 39.9 Regurgitation: investigations based on questions
Question 10 ask Test pertonned

~ - thoro ~'ucIurnl abnormilIit es n:;':'C~C'="""'=_G,-,I,=",=' -;_c:::=m=_=::,,=:::::;=-=:::::==

11' there a de.a-, in ga..~c ElI"I'lpfJ-Ylg? RadorJ.JcleOl<:le gastnc ~ 5tlJ(t..

Does aspraXn occfi C~ X '<Pt. '.1CfeoI'o:)foscoPlfb<n..m ~'I brond1oscq)y,

racioI'u;iOO\ 00 ·m.... scan
C'="""""'=:::;="='.=p'=:~=,",::::;";--------------,W=opy=:::: """ --_-----------------
Are ~Ilic SjffipWITlS causaJlv rootod to GOA? pH rnonitorilg v.ith event recording
Is a hiatus herniil present? &!rium sw",llt>W, endoscopy
Is the 4uun~ty of acid GOR abnormal? pH morIltoring
Is thoro an oosophageal motility dIsorder? Barium swallow, oesophageal ffi..'lI)()ITl(I(ry
-----
Fig. 39.8 AlgoriUlm
Phase I: Basidlile5tyle natments for treatment of
frf<VllS regurgitation
• Postal ng - ody prone efectN'e !r.lt usuaIy not recurmerwjed
.1lIdr.erwJg Ieells - red:.JCeS lfeqlltllCY of regurQllaIion
• ArUclds - May reduce po&slIflg but no e!ft>c:l on signt,c:ant reb

Older~r'I
, A\IOid ca'feIne: choooIate: smoIung: alooOoI
• Reduce 'Io'elQhlll1 obese
• Antacids may gMO' shorHenn symplomaUc relief
Consider trial
of
Phase 2: Prokinetics r- hypoallergenic
• On1)' cisapride has good evidence th.a! effective - but not <NlWItlie formula
• OompefiOOne and metocloprarrude used

Phase 3: Acid inhibition

• H;-b CJtI<.In
• Proton JUllP II1hblors

r""'"
·
haH4
;
)

BOX 39.1 Summary of actIon of acid-blocking
drugs
Histamine type 2 receptor antagonists
e Aanitidine, cimetidine
e Inhibit acid secretion by blocking histamine H 2-
receptors on the parietal cell
Proton pump inhibitors (PPls)
• Omeprazole, lansoprazole etc.
• Block acid secretIon by irreversibly binding to
and inhibiting the hydrogen-potasslum ATPase
pump on the luminal surface of the parietal cell
membrane
An infant with recurrent vomiting and poor
weight gain
Oit'tt'tir aSSt:ssment is indicated. Poor weighf gain
despite :111 adequate intake of calories should prompt
evalu:ltion for cauSt."'S of vomiling and weight loss Olht'r
th:m GOll investigations shouk! include a full blood
counl, clc<twlytL"'S, liver fllll •• ioll It'SI~, sennn ammonia,
gluCl)sc, Ilrinalysis, urille ketones, reducing subst<lllCCS
in the stool and J. review of newborn scrt.:t.:llin~ tl·~IS.
B,uiutll mcal is USU.-llly rt:quirt'd fO exclude an:l!O-
l11i'<ll <lbnonnalitit's An upper endoscopy wilh biopsy
U)
may also be required in sele<lcd patients. m
If CORD continues 10 be suspecled after the abo\.'('
c\'alu.. tion, tre,mnent oplions include:
• l'hickt'ning the fonnula
<
m
• rri.11 of hypoallcrgcllic formula
• Incrc<lsing the nlloric density of the fonnula
Z
• Prokinetic therapy, eg dompcridonc (though no
e....idencc in this situ..ltioll)
• Illlplclnclltingcontinuous nasogastric feeding
An infant with discomfort on feeding
If ocsophagitis is sus!)t'(ted, endoscopy with biopsy is
lhe in\'estigation of choice, though a therapeutic trial 179
 may be c,uri..d Ollt Ill .. best trealTnelll option would
be acid inhibition, possibly with feed thickening and/
or prokinl'tic :1gl'nt.
A child or adolescent with recurrent
vomiting or regurgitation
Olherwisc healthy children with recurrent \-Omllmg
or regurgitation ant'r Ihe agc of 2 ycars usually require
evaluallon, typlGIII)' wilh a barium meal and/or uPIlf'r
endoscop}' with biopsy_ 'I rcatmcnt should be based
1I1'1On Ihe findillW>
A child or adolescent with heartburn
I1w<;c patient.. are t1su"lly trcated cmpirically with
Iifeslyle changt'S accomparllt"d by a 4-wed. Irial of an
II "·blocker or 1'1'1
rcr~istellt ur rL"Currcnt SylllplolllS require im-L'Sliga-
[[on with an upper t"ndo'iCopy and biopsy_
BOX 39.2 GOR In children with neurodlsability
• One-third or children wllh severe psychomotor
retardation have significant GOR
• It is exacerbated in many by the presence of large
hiatal hernias and diffuse foregut dysmotihty
• Growth faltering and dental erosions are a
frequent problem
• All severe sequelae of GOA have a higher
incidence in children with neurod,sability
(recurrent aspiration pneumoOla, blood loss from
oesophagitls, stricture formation etc.)
• Oesophagltis can resJXlOd to Hrantagonists, but
most require 'maximum medical therapy' With
high-dose PPls
• Many of these ChIldren Will not respond
adequately to medical therapy and '-"Jill requre
fundophcation
• Fundopllcatlon has a high rale of perioperalive
and postoperatIVe ComplicatiOns in this group

Apnoea or apparent life-threatening events Causes of malabsorption

Recurrent vonutlng or rt'gurgilallon occurs commonly
in p.uients wilh .lpparent life-threatening events
(AITE, p. 399), 1100\c\'cr, ,.l.ll ds:.ucidlion bClwffll reflux
and apnoea or hradycardia has nOI heen convincingly
demonstr,lIed. In lhe ev.llU;ltion of such patients pIt
monilOrillK lIlOl)' be useful to link intrd-oesophageal
acid with t'\'elllS. Infants with AliT f1l<ly he more likely
10 respond to 3ntireflux therapy when"
• VOlllilinK or 01<11 reglllKit.ltion occurs at Ihe time of
tht' "1"11.
• l'pisodes occur whilt> lhe il1filnt is awake
• ALI E is dlM,lctCI'i"cd by obstructivc "pnoe.l.
~IOSI infalllS rt'~I)()lld In milxilT1(l1 mediral lhcTilPY
Wilh forrnul" thickening. pro kinetic agents and acid
sllpprc~sion. On I}' <l minority require anlireflux surgery.
GOA in children with neurodisability
• EllIcropdlhy: los:, of SUrfOl,c <Hca in :.mall bowel due
10 il1n"mm:uion of the mllC~ dnd villi damage
• Defect in a lranspon mechanism
• Deficiency of an el\:tymc.
Carbohydrate absorption!
malabsorption
Basic physiology of carbohydrate digestion
(BOX 39.3)
Carbohydrates in food comprise starch, sucrose and
laclOse. Starch tJ]olerlll"s (amyl(l~e and amylopectin)
BOX 39.3 Basic physiology of carbohydrate
digestion
Starch 50-60%

Key poillls:He giwn in I~()x 1'1.2. • Digestion by salivary/pancreatic amylase to

maltose and maltolriose
• Maltose and maltotriose:
- -60% hydrolysed by glucose
Chronic diarrhoea and sucrase--isomaltase
-10

malabsorption - ~20% glucoamylase

Sucrose 30-40%
Basic science
• HydrolYSIS by glucose
\13l.lbsorpllon syndromes arc charaGerized by Ihe sucrase-isomalt3se fructose
dssocialion of chronic diarrhoea and failurc to thrivc_
lactose ~20% adults, 40-100% infants
The di:.(mlerl> involvc in.ldcQuate absorption ofone or
• HydrolysIS by lactase -l> glucose
more of Ihe major llutrielll5 and primarily involVt' the
galactose
180 small intestine or Ihe exocrine pancreas
and glucose pol)'mers require preliminary illiralurninal
d igcstion by amyla"C. rdcalii I'E m,d 10~ a nd rna Itot nose,
TIlt" fin<ll hydrolysis of di and oligosaccharides occurs
at the brush border. Glucose and galactose cllIer the
cmeroq.tc via a sodium·linkcd courier (p 175) and
fruc\()!,c vi.1 .111 em·rgy·independent ·pore'.
'-.l,lIab<;orption of carbohydrate leads to osmotic
diarrhoea. The undigeslcd sugar b then fernwnted in
the rolon. pruducing exces<;ive flatus and acidic stools.
Characteristic stools of sugar
malabsorption
• {)<;molic di:mhoea (SlOpS on fasting)
• Very walc~'
• Addic
• Passed with excessiw flatus (explosiw).
Lactose malabsorption
I he mOSI common form of c.ubohydralc 111,1Iabliorp·
tion is lactase mill<lbsorplion. Lacta~ ili found on the
brlJ~h burder in the small bowel. Any mechanism
r.111sing damage to the mucosa and villi of tlte small
bowel (emerop<lthy) will calise st'condilry lartase
dcficiency. 'Ihili call be managed with a laclose·free
furmula or diel. bUI resolves spontancously as the
emeropJ.thy resolves.
In all humans the <lmQum of l:tetase present per
area of small bo\~·el reduces towards the Illiddle of
the first dC'Gldc but ill some ethnic groups it falls to
a 1L,'d \\here s~mptol1ls will OCUir when even a small
amoum of lactose is inKested This is terlllcd congenital
hypoJ.lCtasia and is VCI)' c.ulttltlon. It b ~ililply managed
by rcduring the inge'ition of lactose to that '''hich can
be 1Oler:l1ed
Congenital glucose-galactose
malabsorption
l'his is an extremely rare autosomal rL"Ccssi\'c rondilion
due to the absence of the sodium, gluco.!oe-g.1ladose
trdn<;p<mcr in the emerocyte, Ihe baby cannOI tolerate
lactose or glucOSE' polymerbdsed fl'L-ds. Prcselllalion
is with life threatcning OlilllOlic diarrhoea. I'mdose is
the 0"1\' diela~' carbohydr:ue tolerated and treatment
is \\'ith a fmclose-based formula.
Sucrase-isomaltase deficiency
"I his is a rare aUlOsom<l1 recessive condition with vMia-
ble prcsent,uion. W<-IlelY di<trrhoea follows ingestion
of ~ucrmt' and 10 a les<;cr eXlent slarch. It therefore may
present ,11 the time of the inlreduction of solid~ ,Itld
liMy be confused with toddler diarrhoc<l. Diagnosis is
usually by sucrose hydrogt'n brt'alh test or a sucrose
challenge where explosive walery di.arrhOCd occurs
after ingestion of sucrose, the stools testing posiliye for
sucrose Treatment is with dietary exclusion of sucrose
i1nd to d Icslier extent starch.
Protein absorption/malabsorption
I nitial digestion ofprotein is performed by ga~1 ric pep~in
and pancrc<Hic ellzYllles. 1'1ITllwr hydrolysis of peptides
takt.... place <It the hrush border of the inK-:.tinc, where a
mix1l1re of peptides and drnillO <lcid" <lh' ahwrlwd
Protein-losing enteropathy (Il'" J'.I)
Loss ofs.<:run, proleins across the gut mucosa m,lyoccur
either IWC<luseof abnormal or inflamed mucolkll surfiKe
or from abnormal intcslilldl lymph.1tics. \'Ielhods for
doculllcllling enteric IOS!lllf protein .1Ie available but. in
paedi.ltric practice. are rarely used. 'nll~ scnllll albumin
is low Alpha,-antitrypsin can he l1lea~lIred in the slOol
and will be eleva led
Fat absorption/malabsorption
l-at digt'Slion and absorption lakc placc Jll<linly ill lhe
duodenum and up~r jejunum. ·1 he fal colllen! of a
/lonnal Jiet is prcdotnlllanily insoluble lonR-oCll<lin
triglyn~rides Digestion begins in the s{QlIl,lch widl lipase
produced in the gastric fundu~. I he fat is then emulsified
by bile ~al .... in the small imestine P,lllcrC•.u1c lil>.lSC
then hydrolyses the triRly(crides 10 l1lonogly(erides
and fally acids. Pancre,llic hicdTbonale is required 10
nlilintain optimum pll for hydrolysis for the ncxt slep
BOX 39.4 Diseases associated with excessive
enteriC protem loss
til
Loss from abnonnal/damaged small intestinal m
mucosa
• Coeliac disease (Fig. 39.3)
• Cow's milk protein enteropathy
<
m
• Tropical sprue
• Croon's disease
Z
• Giardiasis
• Graft versus host disease
Loss from intestinal lymphatics
• Primary inlestinal lymphangiectasia
• Secondary intestinal lymphangiectasia:
obstructed lymphatiCS from lymphoma.
malrotation or heart disease/failure
'8'
 Table 39.10 Presentation of coeliac disease
Classical
Stool6 Palo Ioo!:-{l, ollonsw. somoI mos ..·.3~'_
7.W:-.g~:----~W:-"""=_:-~"",,,::-:to lhr,oe
AbnofmaI LFTs
'Sk=-"--------------~--------;:"""""':-~·~,,:-,_:-~_,
Booe._--,----------------------:c""'--".-'--"c,""""--'-'--~--'--------
in fill absorption: the utiliz.uion of monoglyccrides and
f;itty ,Kids by hi1c arids_ TIlis consi~t~ oftheir incorpot<1tion
into :tggreg.ltes called micelles lhat are absorbed by the
intestitl,ll mucosa cell. The mot1oglyccrides and fatly adds
Me thcn rc-(.~tcrified into triglyccridL'l>, which coillC!>n~ into
chylomicrons 'Ihe chylomicrons pass Ollt of the cell and
,lre tr:lnsponed by the Iymphalic system into the blood.
Steatorrhoea
Sicatorrhoc,l results from the imPilircd digcstion and
absorption of fat due to c.'tocrinc pancreAtic deficiency,
lad.. of bile salts or damage to the small intestinal
mucosa
Causes of steatorrhoea
• bocrine pancreatic insufficiency
- C~'l:>tic fibrosis (p. 252)
- Shw;ichman-Diamond syndrome
• L,lCk of bile salts:
- PrilildrY: Byler's discil:'c
- Secundary: obstructive jaundice, ileal resection
(due 10 impaired enterohep:llic circulation),
small bowd bacterial ovclW·owth
• l'vlunlsallMthology:
I'nteropathy (loss of surface area): coeliac
disc,lSC, cow's milk protein intolcr,mce,
gi(lf(lia~is, tropic;-tl ~PTllt', ,HtloimrnlltH'
enteropathy
Co-lipase deficiency
• "tilurc of chylomicron formation:
- ahetalipoproteinaemid
• [),lmage to imestinallymphatics:
- intCSlinallymph,mgiccta::.ia.
Coeliac disease
Ihis IS a disease of proximal small intestine charac-
terized by abnonnal small intestine mucosa, associated
with <l perlllanent intoler,mce to glutcn (TobIe 39.10).
lkrno'ial of gluten from the diet leads to full clinical
182 remission with resloration to normal of small intes-
Atypical
'OJ! pomdgo' Coostopatod
.....eil1Jl ga nfgro.v:h fabe
Iron rOSlSlant
K'9aSed a1ar'ilO&'"asparml& ;wTIiOOtr"ansfcrasa (ALT:AST)
0,'_
tin,al mucosa. The condition may prt'M'lll al ,my agt'
and di<lgnosis is for lift'.
Coeliac disease is due lo·r lymphocylc mcdiattu small
intCStinal entcropathy induccd by glutctt ill a genetically
prcdisp()St.'(1 individual" -Ihere is i ncr~ilsed incidence Wilh
lilA 118 and DQ. Incidence is 1 in 100-200.
t\SSOd,ltiOlls include di'lbeh.:s Illdlitus, Ihyroid
disease, autoimmune chronic aCllVo:: hepatitis and lw-\
deficiency
Diagnosis
• Screening' page 171
• Definitiv(': abnormal smilll intcstin,al biopsy
with :'UblOtol ...iIIolls ,urophy (I ig. "\') J), crypl
hYllerplasia .:md incre.lsed inl1J-mmJ-tory cells in
lamina propria.
Wlwn biopsy is abnonnal and antibodies are
positive, diagnosis is straightfol\\';'ll'd. If diagnust.-d at
<lge < 2 years, il gluten-free diet i~ l'c("Olllmcnded but a
challenge would llsually be performed in Ihe second
half of the first decade, as there Me other conditions
thdl can CdUs\: a similar histologicl! ,lppcarancc. Ille
pill if'nt i~ givcll either gllllen,cflntolintng food, or gluten
powder whilst continuing on <1 glttten free diet. Codiac
disc,lSC is confirmed if antibodies becotlle pu~i tive and
tht: rq)c,tt biopsy ~hows coeliac di~~:isc.
Management
",anaSi:mi:;'nl involves withdrawal of gluten from the diet
(\\·heal!rye.free) under the supervision of a dieliciall.
Complications
-lhere is an increased ris,," of dL...·dopillg ~mall bowel
I)'mphomil and carcinoma of the oesophagus in adult
life ~triC1 compliance wilh a gluten free diet reduces
risk to that of the normal popul,llion.
Shwachman-Diamond syndrome
this rare autosomal recessive cause of pancreatic insuffi-
ciency is as::><>ciated with cyclicdl neutropenia and
other Il<lclll<ltulogical abnorillaliti~ I'atienl$ may he
devt'lopmelllally delayed, and haw an enlarged liver
with .lbnornl.11 liver function leslS. 111crl' ,Irc ilssocialed
skeletal abnormalities and palients are al nsk of
developing haf'm:l.Iological malignancies.
I reatmen! is with pancreatic supplcmcllIs.
Cow's milk protein intolerance
(Box 39.5)
This is due to an imolcr:mcc 10 cow's milk prolcin, which
is usu,llly lmn:.ient. TIle symploms may be ronfincd
to tIll' gilstroilltestinal lraci or there may be other
manifestations of atopy: cow's milk protcin allergy.
Thcrc is .1 30-35% cross·sensitivilY between cow's
mil k a nd suy,l pl'Olcin. 1n eh ildren wi III ga~tmi nte~tinal
manifestatian.~ changes in the small intestinal mucosa
may VMy from normal to patchy to partial 10 subtotal
villous atrophy (rig. 193).
Cow's milk protein colitis
n,is occurs in children less Ihan 2 yeaN of :lge, who
prt'Senl \...ilh bloody diarrhoea Often there is a family
histOly of atopy- At sigmoidoscopy there is a colitic
appcar.ln,,-c.lnJ biopsies show an illcreilw in eosinophils
in the lamina propria (eosinophilic colilis).
Investigations
111ere may be an increase in eosinophils in the
peripheral blood film. IgE may be elevdl,,->J. Patients
may It,iVe ,I IXJsitivl' radioallergosorbence test (RASI)
to cow's milk protein and a pOSitivc skin prick to
cow's milk Ilowc\'er, cow's milk PIOleill iJllolerance
is oflen prc~l'nt whl'n all Ihese [esls are negative, so a
tht'r'lpl'lllir tri(ll is indicllcd when there is sufficient
clinical suspicion.
BOX 39,5 Manifestations of cow's milk
Intolerance
Gastrointestinal manifestations
• Diarrhoea
•
•
Vomiting
Failure to thrive
• Acute colitis
• Constipation
Non-gastrointestinal manifestations
• Migraine
• Eczema
• Asthma
• Anaphylaxis
Management
Trealmem is with a cows' milk protein-free diet, ming
a Clsein hydrolysate as a milk sllb:.lilllle l1,e child
should be chalknged at Ihe age of 2 }"E".lrS, as most
will have olltgrown Ihe condition by this dgC. Whil"t
anaphylaxis is rare, challenge should uSll<llly he carried
oul in hospital
Short gut syndrome
'l11is is a problem seen mainly in a s111<111 number of
surgically treated infanlS when a large "I!&ment of
gangrenous small imesline is resected a.s a result of
necrotizing enterocolitis or midgul volvul"". '1 hes...·
infa.nts arc depl'ndcnl 011 parellll>r,11 nUlrition
(PN) following surgay and Me prone to fluid and
electrolyte disturbance, sepsis frOI11 cenlral VCIlOIl~
catheters and liver damage (PN rholcsl'l.'>is) l'hey
require 40-60 Clll or non-dilated upper 5111,111 intes-
tine, preferably wilh an intaCl ilcoG.\ecdl v,lIvc and
a colon, to have enough bowl'l 10 :oust,lin llutrition
wilhout PN in tht' long term This length of bowel
will nOI be sufficient initially, as il needs 10 undergo
adaplat ion to increase its surface art';!. 'I his process
can takt: up to 1 y....ar.
Acute abdominal pain
Abdominal p,lin of recent onset should trigger prompt
diaKllosis and active UClunent. While mO'it rhildren with
i1rute alxlominal pilin ha\y iI self-limiting condition, the
pain may herald a serious medical orsutgictll clllergency.
Primary CMe aspccls are discussed in Chapter 2 't.
Problem~orientated topic:
acute abdominal pain
A 4-year-old Iwy, Callum, is admitted to en
the acute a~fifiment unit with a 24-hour m
history of rleht upper quadrant pain that is
WOf5e on movement. On examination he has
a temperature of 39 C and is grunting. He is
<
m
tender in the rlel1t upper quadrant but has no
signs of peritonism. His haem09lobin is 11,6 gldl,
Z
...mite blood count 23 x 1()911. l18utrophil618 x
leJ9/l, p1ate1etfi 465 x 10"11. C·reactNe protein
135 mgll and 5erum amytase 90 lUll.
Q 1. HO\'J would you assess this child?
Q2. What tS the most likely diagnosis?
183
 BOX 39.6 History and investigations In acute Acute appendicitis (Ch. 1S)
abdominal pain
InitiJ.IS}'mplomsareperiumbiliGiI p,lin. naUSi'a, \"Omiting
History and ,lIlorcxia. TIlerc may be as5(Xialoo flWJuency of
.39 • Pain: miCluritlOn. OassiGilly the pain then iJdia(cs to the right
- Site. characteristics, exaggerating and iliac foss.l.. though with a retrOCiIl.."G:l1 appt:ndi'( Ihe pain
re!'9Vlng factors may be morc laleral and in Ihe flank Ihe p.:uiem will
- Young child: unexplained screaming haw a 100\"-gr.Kie temperaluft' and localized perilonism
• Associated symptoms: in the right iliac fossa. Once (he appendix h~ perforated.
- Diarrhoea, vomiting, urinaJY, menstrual, rectal there is d high ft.'\'t:r, gmllling respiration and generalized
b1eed,ng
signs of fX'ritonitis Ihe appendix Illay JX.'1foratc 10 form
• Trauma?
a Ioc.llized abscess when a mass i~ pllipahle in the
• Past medical history
right iliac fu~a. The diagno~is i~ usually based on the
Examination clinical present:ltion. though an elevated neulrophil
• General: white COUlll and C.reanivc prOldn may be helpful in
- Temperature, signs of cardiovascular instability, supporti llg (he diagllosis. The di.1gnosis C.111 be difficult
respiratory rate. rash. joints. lymph nodes in younger children, who are usu<llly mort: ill ,md havf'
• Abdomen: generali7..cd peritonitis at pn.:Sl:I1I:llion as a resuh of
- Signs of peritonism, abdominal mass,
pcrfor,ltiOII. Treatment is surgical
Intestinal obstruction

Investigations
• Blood:
Acute pancreatitis
- Full blood count, urea and electroly1es, liver ACUle pancreatitis results frolll .\uLOtligc~tiull uf the
function tests, amylase
pancreas.
• Urine:
Causes of "CUlt' pancreatitiS in childhood arc:
- Urinalysis for blood, protem and glucose;
microscopy and culture • G.1l1SlOnes
• Radiological: • Congcnilal abnormaliti~ofthot.' pancrt'as:
- Plain abdominal X-ray, chest X-ray. ultrasound pancre,llic divisulll
and CT of abdomen • lfauma
• Ilcrcditary (autosolllill dominant, incomplele
penetration)
Ql. How would you assess this child? • Ilypercaicaemia
• Ilyperlipillacmia.
See Hox 39.6.
Clinical features
• Pilill, upper ,llJdOlllinal, suddt'll onset, continuous
Q2. What is the most likely diagnosis?
and ill1t:llse. radiales 10 bark and flank. The severity
The c1inic,!1 algorithm shown in Figure 39,9 is helpful is rel;:tted to the degree of perttOl1iSIll ilnd is caused
in ,Ill: Ji,lgnosis of acute abdominal p:lin. by liberation of enzymes .\lld hMll1orrhagf'

Fig. 39.9 Diagnosis of acute

PeritonLSm

__---!.N~~~--l
abdominal pain

"'~
Signs 0' otstruclioll ...

Surgical lnua.abdominal Sysllmlc

• AppefldiaLs
• ,rllUSSiISCeP:io1l
'BaclenaI~
• IIeseI1 Ie ric adenilis
• Pet. c ifllla'T''TIalorydsease
• Umary l'lld Dedxlns
I:=:----
•Sicode OI! disease
• \tlI'•..iJs
'1IlC8l"<:ercIle(! helr'E
""""'""
·• Ct101ecysti1Js
• Pej)lJC!.kef • kllla'lVl1lltory bowel d S€iISe
• Henoch-SchonlOO purpu<a
• Gast"OlllllelIlS
• PanaealJlrs
184
•
• \'l>lIlllitl.i:: SC\'cre, bilious and Illay be fatXull:'lIt a" a
rt."Sull of par,dytic ilt-us.
• (lI"i,'ill findings: fever, signs of cardiovascular
instability (lachycardia hypotension), pcritunislll,
ileus; there may be all epiga~tric mas"
Iht' diagnosis is confirmed by an c1C\"lted serum
.lmyl.lsc.
Management
• Ik~uscitdliofl
• Nil by moulh
• Nas(}Jo':,lstrie aspiration
• lntr.t\'~nous fluid~
• An.llgesia: pethidine
• Antibiotics
• -..lutritional support: tOial parenteral nutrition or
lejunal feeding
Once the palicnl has r('(Overed. the chIld <:hould
he iIlVt:Sligau::d for an underlying cause. If the paliellt
has gallslOllcS, cholecystectomy should hc Ulldcrtaken
whell the patient is well
Chronic pancreatitis
HepeMed atLlcks of pancreatitis cause the P,H1CH'<lS 10
become .moph ie ami fihrol ie. '1 he duclS art' obstnleted and
dil.ltt.'d .1IId cysl.like cavities dewlop. Exocrine pancreatic
insufficienc}' may occur. In dlildren. this is u<:ually due to
hercdiL1ry pancreatit i". 'I hey either have iC'rurrem botns of
arule p.lIlcreatitis or m<J}' develop inUaCL1.ble pain. Mute
episodes are mana&---xI with analgesia and intrawllOUS
fluid!>. Allark.. may be preventi'd with antioxidants and
p,llIcrt;":lIic supplements
I'ancreatic pleural fistula is a roue colllplicdlion. The
child will J~velop a pleur,,1 cfTusion that ha.~ a high
,llllyl,t<;c (Olllent.
Intussusception
l'his results from the ilwagin,llion of onc p,1fl of lhe
bu\~c1 imo anOlher (u"ually the tenninal ileum into
tht' caecum) This re5ulls in the blood suppl}' to that
part of Ihe bowel being se....erely compromised. It am
occur clt allY time in childhood but the peak incidence
is l}('t\~eell 3 <lnd 6 monlhs of age following either
an upper respiratory infection or gastroenteritis, or
coinciding with thc introduction of wlid" when the
Peyt'£'" patches become enl.lrged and ad ,1S a lead
paine Thechild has episodes of pain folluwed hy pallor
and mar pass blood in Ihe slools (redcurram jelly). A
mas" is usu<ll1y palpable though the diagnosis C,Ul be
confirmed with an ultrasound scan (doughnut sign).
!'reclunent is with either all air or a barilllll enema.
If thi" fails or the child h.lS had symptoms for more
than 24 hours. a laparotomy pillS surgic.11 reduction is
indicated. [lHllSSllM:eption may be recurrent.
Volvulus
Volvulusortwistingoccurs when a long mobik loop of
bowel revolves around its UWI1 mcsell1ery. Volvulm of
tile lnidgut from rnalrUl<lIion i~ most common during
infilllcy bill may occur at any time in childhoOlI. II !Il,'y
be intermittent or Illdy C,IUSC ischaemi" ,md inf:lrction
of tIlt.: gut. The symptoms are abdominal pain .md
bilious vomiting and there may be associat~d fullness/
abdominal distension. A pLlin abdomill,t1 X-ray m.lY
show d double bubble ,Ippearance due to .lir proximal
to lhe obstruction, though there is u~udlly .\ small
amount of distal dir. The di.lJo:lIosis i" confirlllt'<1 with
an upper &-buointC5tinal contrast study which will
dClTlomtr:ne Ihe ligament of lreitz to Ix: ,tIJlIoflnall}
placed (it should lie to the left of the midlirw and
abovc the duodenal bulh) '1 re.ltment is SllfAiC.1l,
Blood in the stool
(Sce alsn LIl. 2S.J
Problem-orientated topic:
bloody diarrhoea
Ryan, a 2~month-old l:1oy. presents with
bloody diarrhoea pre5ent for 2 weeks. His
mo'ther is well except for poorly controlled
a6thma. He i6 formula-fed and thriving.
Q \. What diagnoses would you consider?
Ul
Ql. What diagnoses would you consider?
m
Lower g.1strointCSlinal blceJinK (originating dist.ll 10
the duodenum) is a comrnoll problem in p;'ledi.1trics
and. although mOSI GlUM'S ;'Ire self-limiting ,lIld Ix:niKn.
<
m
st'rious pathology can present this way. TIlt.' 1Il0S1 likely
diagnoses based on histUl)' of til\' blertling and age of
Z
the child arc shown III lable 19 11
Anal fissure
An.11 fissure C.luses bright ICJ blood Oil Ihe olilside
of stool. somdimes dripping illto the toilet and on
lh~ luilct tissue Usually lhere is a histol)' of pdSS.lgC
of large constipated Siool and pain 011 def,!t'(',lIion 185
 Table 39,11 Common causes of blood in the stool
Most likely diagno:!e:!
Desct"iption 01 likely amltomieal Birth-1 month 1 month-2 yellr:! 2-10yeanJ 1o-16years
bleeding per rectum source/cause
39

-
Brlghl red blood or llIC1um Wamio K def:cil:r1cy Anal fisslxe
ootlttng forme<:! 9:001 Analli:Ssue ""'"
Anal lisSU"e

'BIood;;::::::,:,C~::::=---;""""'::;;-;::-,:'oo:::'.-;::-----;Food=O,:_::::,,,,:C<rl:::;C"';-'FCood:::;·:_::::,,,=_:::;C,o-wlnlect.OU9 Infectious enterocobs

V:anTl K delJCiency lnlectK.Jus €I1terocol1:is in1\arTvnato", I:xlwe
Nocrot zWlg eme'OCQlllS Inl'arrmato'}
enlcnx:o :IS HfSd15pru'195 bcfflel disease ''''''''
1-Wschsp'U'19's enrenx:o lis
enlcnx:o :IS NecrO!JD1g
eot€'OCO lis

Su-g:<:al ca...se'
ootal sr"l8I ba.YElli
""'...,
Oll'9ricul.lTl
----c=,-----,----,----,------

prour ill colon ~:iOnC'yst

VO.Ui.;S

'[he fissuft" IS generally posterior and obvious on anal Polyps

inspection Ircalmcm is usually by stool-sohelling
agCIll.5
Food allergy
Bloody diarrhoea can be the presellling feature of
allergic cntcnxolitb., most commonly due to row's
milk and/or ~oy protein.llw child is usually lf'sS lhan 3
months old and. though Ihe infant can hayc associated
vomitinp; and become dehydrdlt.xl. the blood}' slooh
;He often tilt:" isoliltf'd concern in an olherwise well
baby with normal weighl gain. The child should be
given il hYPo.lllelgenk formula. u~ually a hydrolysate.
Infectious enterocolitis
IIloody stools can occur in infections due 10 Silimonell.l.
ShiRt'JlII, Gmrp)'!t)/IiIt"ler jeililli. Yi'rSilJill ('/Jlerowlilial,
E~dlCrithill wli 0,7 .lIld Elllrwu'I'V(j lli.,wl)'linL l'scudo-
mcmbrdllolls colitiS duc 10 (..{oslrirlmm (iifficile should
bc considered in an}' child having received broad-
Spt.."(lrUIll ,1Il1il>iolic.'>. Slool cuhures and 'hal' slOol... for
OVd, cysl~ and p,H:!... ile ex;>.minalion (and CI (JiJficile
toxin, it indicatcd) arc mandatory in any child with
bloody diMrhoe.1.
Meckel's diverticulum
lliis typk<llly present... before 2 p:drs of age with the
painles~ IM"Silgt' of iI Iilrgt' volume of dark red blood
in an otherwise healthy child It is lwice as common
in boys dS girl....
Intussusception
186 Sec pa~c 185.
Polyps are ,l relali\<ely common cause of per rectum
bleedin~ in children under 1 yeM.... Rlt-'t-'ding is typi-
cally bright fl.'1-I, often on the surface of the stools,
small in amoum ,llld p;\inless inely percellt of dlild-
hood pol}'Ps arc h,ullanomatous juvenile polyps,
whidl arc beniKn, generally l>ingular and situated in
the left colon. 'I hey are confirmed and remov-cd at
colonoscopy
Haemorrhoids
Ilaeillorrhoid.'> Me rart' in inf,mls and children, and if
pre~etH, are uSH:!lIy duf' 10 pOrt:tl hypertension. TIley
do occur in constip,Hed ,ldolcsccnts, causill~ hlct'ding
during defat..'Catioll with blood 011 lhe slIrfJ.ce of the
slOol or the loilel p<lper or dripping inlO the toilet bowl.
·1111" child may describe something 'coming OUI' from
their anus durilll( defat.:ra1ioll <lllll lhl' IMill is typically
<Idling in Il<IllHI' ril11wr lhal1 sharp as described with
fissures,
Inflammatory bowel disease:
Crohn's disease and ulcerative
colitis
Crahn's disease is an inflammalory condition affecting
any part of the dig£"Sliw Iran and involving the entil"{'
thickness of the boWE'l wall. Isolated ileal diSl?ase is
less common in children allll Crohn''l colitis is lhe
commonest diSlrihulion .symptoms include abdominal
pain. anorala, weight loss. poor ~rowth. diarrhoea
(which mayconw.in blood and 11lUCUli) and fever. Posi-
lh'C ph)'-sic.al findings may indude anorexia, thickening
and fissuring of the lips (oro f:!cial granulomatosis).

Hepatic
,n",
-
Hepalic-f'''''':-;'';'';:,.,.<.
l-lepatocytes
""".
~.,
Fig. 39.10 The analomy of the liver lobule
dubbing, alxlmnin,t1 IIl.1SM'S, peri-anal fis.surcs and
skin lags. Hlood 1(>515 r",~al nidence of chronic
inflammation (e1C'V.Jled ESR. eRP and plalelet count
anti hypoalhurnimlcmia). Definitc diagnosis is based.
an upper CI endoscopy, ilro-colonosropy and biopsy.
Treatments include diet..uy measures (elemental and
polymeric did), steroids illld immunosuppressive
agents. ~urgery and resection of the affected are.1S m.1Y
be nttded particularly in se\"ere growth failure or
suinuring disease.
lIkf"r:niw colili'i: IS confined 10 Ihe large bowel.
Symptoms indudediarrhoea with mucus, reel.ll blMing
and tencsmus. DidKlIosis is bas<.'d on colonoscopy and
biOpsy In·,ltmenl;'i: inili,llly \.,.ilh sleroids (sYSlemic and
local) and:> .lminosalicylic acid Colroomy +{- ileal
pouch is rL'SCJVL'G for failure of mL'diGlI treatment.
Liver disease
Basic science
Tlw liver is divided into lhc rilolht .lntl left lobe. which
;He in Ilirn dividt'd irllO t'iglll srgmt'llts. I~ach segrnenl
is divided inlO lobules wilh a central vein, In the spaces
lwtwf'rn til(' lobllirs ;m' br,Hlches of thl..' ponal vein.
hep"tic :trtery and hile dUCI Lm,llkuli (hg 39 10).
111e functions of the liver include formation and
S<.-'(Tl..'lion uf bile. Klycogl..'Il storagc and metabolism.
ketone body formation, d~loxificatiu'l of toxins and
drugs. and Jllalluf,lCture of plasma proteins and coa-
gulation factors. ","'hilst biochemical liver function tests
rdlt'C"t the <;t.·vt.'rit}, of hepatic dysfunCiion, they rarely
provide diagnostic information of individual disease-
Baseline investigations
Biliruhin is n.....u ly always devil ted in liver disease;
when deteCled in urine it is always abnormal. It may
also be elcviuoo in any condition causing haemol:"'Sis.
Causes 01 dcvatLxI serum bilirubin are shown in
Hox 19 7.
BOX 39.7 Causes of an elevated bilirubin
Unconjugated
• Increased production of bilirubin:
- Haemolysis
• Failure of transport of bilirubin 10 site of
conjugation within the liver celi:
Gilbert's disease: autosomal dominant. mild
Jaundice, Increased with intercurrent Illness,
dehydration and exercise; otten vague
abdoffilnal pain and general matalse
• Defective glucuronyt transferase activity:
- Crigler-Nauar syndrome types 1 and 2:
Type 1: no bilirubIn uridine d phosphate
glucuronyltransferase (UOPGl); risk of
kernicterus; treatment WIth phototherapyl
hver transplanVauxihary transplant
Type 2: partial defect; treatmenl nol usualty
required
Conjugated
• Fa lure 10 transport conjugated bilirubin to bile
canaliculi:
~ Oubln-Johnson syndrome, Rotor's syndrome:
both autosomal recessive
• Intrahepatic and extrahepatic obstruction of bi~e
flo\'!:
- Intrahepatic: drugs, viral and autoimmune
hepatitiS etc.
- Extrahepatic: mechanical obstruction
(gallstones, extrahepatic biliary atresia and
choledochal cyslS)
Other indices of liver function
(Table39.12)
Aminotransferases
• Aspan.1te (A~ I')
• Alanine (AU).
Thes!' ,lTe present in liver, he;'!n and skeletal muscle, fn
and arc elevated if there is hepatocyte damage. m
<
m
Alkaline phosphatase (ALP)
ALP is found in liver, kidney, bone. placentd and intestine. Z
Elevation of this en/ymc in liver diS("ase inJimlt-'S bili.\fY
epithelial d.lrnage, cirrhosis, rej«tion or osteopenia
secondary to vitamin D dcficiellC)'{nl.llabsorptioll
Gamma-glutamyl transpeptidases (GGT)
GCf is prCSClll in biliary epithelium and hcpauxy1.cs.
and increased ill many forms of liver disease. 187
 Table 39.12 Significance of abnormal investigations in the jaundiced child/child with abnonnillliv8l'" function tests
In~tiga1ion Signif"lCance

""""""""----~
~.jtl., l..lncon_ogaIed ~ SU!J99St$ t".JOOlOI:,"Sis
Cor"PJa:ed ilcrllrase suggElGls ~tlC or post -heQaX; disease
==_
-",;o;;TC.AL:;;-;TC:..,...,..==C",,::;-;,=~=,~,,=~=.,=,.,.=.C;GOG;;;;':----,EO:••:~;;",C;-:dwilO.OC" ....
AbJ..,...,'!otai p<otens AiburTWl k:M' n mon.c "lief d ~~.IO'.., pro,efls el8Yaled on a.t:olnriSl9 hepatit S

serologY' Ide« Iica:ion of viruS caus "l9 "'--:-=c:---:-=---:--:--.,----~--:-

_-c.,_'
'TFU'lOlOgf ncreaseo 19G. +"6 artl-.df!.v ani lX:ldeslANAlItyoe 11. tve rver. ~. rncrosome
ant boOBS IJ<M) (type 2) In a.....',..,·.lUl9 chroric actr:e heD<lNoS,:-:=====:::::=:;_
Cer\.l~miIldec'eased. 2tl·11CU ~r.ary copper pm- alld poot-l19rdal'TWle noeased
III W son'S 0 sease

Synthetic function of the liver Autoimmune liver disease

• Albllmill. If JecreaseJ. indic<111:~ chronic liver !\uloillllllunl:' chronic ,1C1h-e hepatitis is a chronic
Ji~C.lM::. inflammatory disorder affCClil11o\ the liver. responding
• If abnormal, indicates significant
CO<lgjj/IIII01I. to il1llllunosuppression. II nMy coexisl Wilh olher
hep,llic dysfunction, either ,\Cute or cbron ie. autoimmlllledisorders and the male: female ralio is 13. Il
• Hloo:l gllle,'Si'. A finding offasling hypoglycaemia marprcsent as hepalitis, fulminant liver rililure urcllronic
in ,lbsence of other causes suggeslS poor hepatic li\'Cr diSl'lISC (often despitc a shan history) -I he di,lgnosis
function, particularly in llCute hepatic failurc. I~ rnnllmled on liwr biopsy (interf'lcc hCPoltitis).
IIl\'eStigations lypically show raiSL'<.! 101<\1 proteins and
IRC, antinuclear anlibody (A 'fA) ,llId smooth muscle
Infectious hepatitis alllilxxly positiw (classed .15 rypl.' 1), and liw'f kidney
Causes microsom.11 (I K..\1) antibody posili\-'C (Iype 2). I"reatmenl
• Anile viral: is immunosuppressive. with steroids il,ld ;v.alhioprim:_
Hepatitis A. B, C (0 ,lIld E) (Table 39.13) Sclerosing cholangitis is an autoimmune condition
- "lea~l('S predominantly affecting intra- and c.xtrahepatic bile
Rubella ducls, lcadinK to fibrosis dnd ll~ually associ.ued wilh
Erythrovirus 19 (pdf\·oviru!> B19) ulccrdlivt: colili'l. As there are similar aUlOantibody
Ilerpe'l ~irnp1ex IYI~ I and II fealures 10 type 1 autoimmune hepoltitis, there is probably
Varicella zoster some o".....rlap belwecn the two (ondiliollS.
Cytomegalovirus
EPSlci 11- Hilrr virus
II1Iman h.,rp"s virus typ" (, Wilson's disease
Yellow fever Thi~ is a rare :\lllOsomal recessive disorder. There is
• Nun-vit.'ll an accumulation of copper in liver. brain (causing
leptospirosis beh.1\'ioural changes and eXlrapyramidal prohlems).
LI51,'rill 1II0IlOt.."I~I"u'S curru:a (Kayst'r-Fleischer rings) and kidneys (ren.ll
- I"m.opl,lsmosis tubular problems, viLamin O-rcsistant rickets). The
- Ilydalid dis.:::aSt'. genetic defect results in decreased sylllllt:si'l of copper-
binding !)folein ceruloplasmin and dere(livf" copper
eXrTelion in bile. Children present mostly under 12
Hydatid disease
rears wiUl any form of liver disease or occasionally
This is caused by Et-/lj/lococ•.-II$ (I.lpcwoml), whose inter- with hdemolytic anaemia.
lln:diate hO':lt is sheep dnd dogs Following ingcslion or Inc dl.1gnosis is based on measurement 01 serum
0\<1 hy humdns, the embryo develops and peneuates copper, bUI this COIn be unreliable (usll<llly decreased,
the stomach w.:ill, reaching the livcr via the parral \'Cin. occasionally normal or increased), decreased ccrulo-
Cvst!> d(.,\"CIop in Ihe li\'Cr dnd lungs. I ivcrC)':>ls ill1:' slow- plasmlll; increased 24-hour urin.uy copper after D~
growing, giving asymplOmatir hepi110megaly penicillamine; and increased li\'cr COPI~r,
'I re<llmen! is either by surgical excision, or with I'rcatment is ...... ilh pel,kilbllllnw to chelate and
188 mebendazolc for 3 months. excrele excess copper, and "inc to decrease absorption.
,.,..
Table 39.13 Clinical features of hepatitis A, B and C
Virus

RNA
..-
Incubation

30 duys
Transmission Clinical presentation Treatment

Hepal lis A
""""'""" Acu:e *'ess ....,lh 1lilIUSll6.
alxlolTl'M P<W1. J~tn:Ilce
;n:l hopatO'Tlfl(Jaly
~.usnormaly
:.ltlIflm:'l9 ilncss
.", IgM
IJery rare c:.ause 01 a; j'e
or,"8r!allure. rare ~EI"Il
..-.-
_"B DNA ~laoda'1S Trcnsluslon bkXldf Mayo be a9:)I!1l)t~'oc inTerferon 8l'ld Iar't'WI.One may be
bIood~'
~-
'"'"'" "Xli ClaSSiCal Iealaes of lICUle
NeeCl estd<. ~i r,epaJ tis. fu '1'iniInt heplr..IC Pnr.-eotlOn.

'"-
pregnant ,·.tl'fle/'1

-- ' '.-
Laletal so-ead In faliu-e 1-2% 9CrlleOIId lor IlllOa'JI S B svtace
..-"
chn:nc canege 8abIe5 ~ aI t-esAog • -e mothers
''''' _a"""" """'"""""""'"
3Q-5O'l'(,

''''-
...~ nsk of hepalooellJar " rnoItWI' t18s ~ B e iIrt9I'L
can:.:noma In IaIer ....
......
-
+~baby~~

-- C RM
"""'do" Translusol biood.'
blCXXI proWcts
\lertiCallransrrossiclr1

'"
Rar9lV seve inIocl:oon
50"H
trver dsease. deso e """""
Il'ICrly t'.a-. rg f'lOmlal 111&I"
U1ction tests. ald
w,wIerc:Ir1ar1d rtla\.',., n
cornbnaloo may be of bw1e'it

prO!JeSS (0 orrhosi:$ wCl

~of~"
......e...:O'1Il1n later Me

Linr tran"pl,lIIt;ltion is re;erved for acute liver failure
;lnd decompens.11E'd li\'er disease
Acute liver failure
Acute livcr failurc is rare in childhood dnd has ,1 high
morIa lit),. It ;s ddillt_'_1.1 as onsct of clKcphalopalhy
and coagulopalhy within R weeks of lhe onset of liver
disease. The most COlllmon causes arc viral hepatitis,
undefined fllctabol ic conditiuns .11ll!, in the older child,
deliherate overdosage of paracetamol.
lh;~ child presell15 with j.1undice, encephalopathy
and hypoglycarrniil.I11+.: signs of t'IICt'ph,llopillhy may
initially be subtle and include drowsiness, night-time
wakefulness and periods of irritability and aggression.
Inilially, thc biliruhin Iluy 1101 be dcvalt:d but trans-
aminase~ afe wry high, coagulation is abnonn:ll and
anuTIoni,1 is ele....ated
• 1'rt'I'f'nI s,/srrolllll'"llllll />/t'{'llmg: It z·blockers/PI)ls.
• I wl'r protl'nioll f\,. aCetykYSleine 150 mrJkgl24 hr.
• TrtlllsJer 11'llm SfllUiliu,1. to supr,lh:gion.ll liver
transplanl unit
Cirrhosis and portal hypertension
Cirrhosi~ is a pathological diagno~i~ tll'!l includes the
combination of fibrosis and fegener:ttivc nodules. It
is the end result of many forms of liver Jiscilsc .md
causes ponal hypenension, a-.ciles, distended veins on
the abdominal wall .1nd oesoph<lgeal varices.
Ul
Complicauonsofportalhypertens~n m
• iUcili'S: results from decreased albumin and ~odillm
retenlion; treated wilh diuretics and albumin
infusion
<
m

Principles of management of acute liver failure

• HrrltJg/)"u/e/llill maintain blood glucose> 4 mffiol/I
with H~ dextrose
• Pr(,l~m sepsis broad spectrum antibiolics/
antifung,lls
• C0<1gI110r'<I/Jr)~ (orrt'CI with vitamin Ii: and fresh
frozen plasm.l
• Wel.rill Ot"llt'1fl<l. nurse head up. restrict fluid to
60% malntenallce, VClltilatiOIl for ellcephalopathy.
• 'Irpe:rspli·m~lIlr dl'('reased whilt' cell count and
platelet (OUIll
Z
• Oesoplzll.'.:eall·llrile~. lIlay bleed
• Lncepi"l/opmhy: often precipllOltOO by
gaslrointestinal bteed/sepsis/rE'nal failure.
Management of bleeding oesophageal varices
• IlesUKlfll/lOn: blood transfusion, aiming for
haemoglobin of 10 g/dl
• .\rill supprmioll; Ilyblockers/PPls 189
 • Lowl'rill.~ poual blood J./fe~HrI': octreotiJe
(vasopressin analogue)
• LlldQscoPY: sclerotherapy or banding of varices
• ResislillJl Ii/ceding liver transplantation/shunt
operations.
Extrahepatic portal hypertension!
portal vein thrombosis
Blockage of the portal vein may result from a wngcnital
abnormality of the ponal vein. blockage following
190
umbilical venous cdthctcriZdtion, olllph<llilis <lllll
innhmtinn with tumour, The ponal vein is not seen
on ultrasound and is replaced by tangled enlargcd
vcnous collaterals: cavernous transformation of the
portal vein/portal rilvernomil. l'rc"entatioJl may be
with haemorrhage from oesophagc:l1 varices, an
enL:Hged spleen or hypersplenism If gastrointestinal
haemorrhage cannot be rOlltrolkd endoscopically,
blockage em be bypassed by a graft, usually taken
from the external jugular vein: mcsorex shunt.
 Janet M. Rennie

48 Neonatology III:
Neurology, haematology,
metabolism and sepsis
Learning outcomes 364
Neurology 364
Haematology 368
Metabolism 373
Sepsis 376

..
By the end of this chapter you should:
• Be able to describe the features of neonatal encephalopathy
• Be able to explain the mechanisms of brain Injury in fulHerm and preterm infants
• Know how to initiate the management of neonatal encephalopathy
• Know the common causes and management of neonatal anaemia and
thrombocytopenia
• Be able to discuss the differential diagnosis, investigation and management of
haemolysis and jaundice in the newborn
• Have an understanding of glucose and calcium metabolism in the newborn
• Have an understanding of the pathophysiology of sepsis and its presentation in the
newborn.

-
m
C)
Neurology
Basic science
Brain development
{examples .1I"e
lissell("~pllllly).

Cerebral blood flow

schizellc~phal}', polYlIlicrogyria and

:I OunnR intrauterine and cMI}' neonatal life the baby's
-t brain hi dC'oeioping e.'{tremely fa~l. At 10 .... eeks the
hrain is almost completely smooth, and although
neuronal formation is complcte myelination has nOl
begun, nor has glial ,ell differential ion (llg. 481)
In the Sffond and third lrimester the rapid pacc of
development continues. with the fOfludtion ofsulci and
gyri ami continued organi7~lion of the celllmi nervous
S)'Slem (L"~). IllIerference: with the nonnal proceS05
of development can occur and modern Ilcuroimaging
364 has made the diagnosis uf !ouch di'iOrders much easier
Ccn:bml blood flow (CBI-) is Il'lalively tow in the new-
born compared to later in life and the maior detemlimllli
of CBF is blood pressure. Other faClors thai affect CBr
arc arbon dioxide con«lltmtion and intracranial
pr~sure (ICI~) Babies are not as good as older children
at 'aulorcgulaling' CBF; auton."gulalion means that CBr
i~ kept mnSlanl owr a range of blood pressure, thus
prolooing the bram from fluCluations ill blood pres-
sure. Theconccpt ofl055 of auton"glilalion is imponant
in ul1J~rMallding why brain injUly occurs when there
is c('rebral oedema (lCP) and in prclerm brain iniury
 Milestones of development In letallneonatallife
7 8
,

~~~~
months

25 35 40 50 100
days d<1ys days d<1ys days

('-\~ $

"",,+---'---,--t--------<
Q

Organisation

Gill, oe d flerent.aaon

l'yeII'Ia'iM

Ca1<O..."
I
10 15
" "
Jl)

Weeks gestation
" 40

Fig.48.1 Milestones of development in relaUon to the neonatal intensive care unit (NICUj

• Cxcitoloxicily
• C}'tokine damage,

Some cell:'> appe,lr 10 commit cell <iuicide Capoplosis')

cell death because of upregulalion of genetic triggers; others arc
In'lammalJon '- damaged by cxcitoloxicity JlIC to gIUt.IIll:I1C rdelse. or die
from free radic,ll oxid,lliw 'llfl:':'>S or from cytokine release
O~idalMl
as a consequence of inOamm:lIion. Understanding of
stress the on~oing proccss of cell JCath and dtllll.l~l:' bas kd
to an understanding of a 'thcrallt::lllir window' I'lsting
Hours some hour.; immediately :'lfter llle injury There is hope
thal appropriate inten'cntion dUl'ing this window
can ameliorate ,\Ollll~ of lilt: ongoing (lamage, and

Fig. 48.2 Mechanisms of brain injury in the term neonate

(From: FetTiero 2004 OM Neonatal brain injury. New Englarld
Journal of Medicine 351:1985-1995)
currently there is milch intere"t in brain cooling as an
intervention in full term infants,

Problem-orientated topic:
-
m
C)
(10.';1 autort..');ulation, (Juctu,lIing blood pressure, and abnormal movements
J:
high carbon dioxide levels in respiratory failure) -I
Jack, a 2-day-old balry of an 18-year-old
5ingle primiparous woman who work5 in a
Mechanisms of neonatal brain injury nightclub. is noticed to make repetitive
A reduaion in CHI- and brain energy supply sufficiem jerky movement-6 of hi,;; arm!5 and to be
(0 cause damtl~ initially causes saml.' cdl death but the slightly blue. The whole epi~ode la9t9 le95
damaging proces:. colllinucs long afler CBF is restort..>d than 1 minute. Jack W8e born I:7y ventouge
(rig. 482)_ The key processes in ongoing damage are' and had previouely been feeding well from the
• Oxidatiw stress t;.rea5t.
• Apoplosis 365
 Q1. What other Information from the history would BOX 48.1 Differential diagnosis of neonatal
be helpful? seIzures
Q2. What emergency investigations are indicated? Hypoxic-ischaemic encephalopathy
Q3. What management are you gOing to arrange? • Seizures within 24 hours of birth, history of fetal
dIstress and birth depression, often with early
l/l metabolic acidosis
·iii
c. • Baby is encephalopathlC; altered eNS state
Ql Q1_ What other infonnation from the
l/l
history would be helpful? Focal infarction (stroke)
"ll
ffi H,:thies with encephalopathy are charncteristically lethar- • Seizures often occur on day 2 or 3 and can be
focal
gic .1nd floppy; wilh a reduced 1C'\-cI of spontaneous
E ,lCtivityat firsL TItey tlu::n lx."Como.::: irritable. Witll seizures, • Baby usually still feeding and alert between
.S!! seizures - not encephalopathlc
o which .Ire the h<lllmark of the diseilse. I~ilbies who have
.g seizures without encephalop,lthy <\re likely to have
suffen.:d .1 stl'Uke. The most COllllllOli CdUSt: of an early Meningitis
Qi n\.'l1nal,11 cncephalopathy with seizures in a term baby is • There may be a history of prolonged membrane
E hypoxic ischaemicencephalopathy (Ilox 48,]). Neonatal rupture or of maternal pyrexia in labour
,; enccpll.1Jop..ltllY is a serious condition. occurring in 1-6 • Fontanelle often full; baby systemically III
8' per lOOO hirths at teml. 'Ihe monality is around 15%, and • Aemember to ask about maternal genital herpes

~
25% of survivors will suffer signific.lnt neurological
dbdbility. Neonatal abstinence syndrome
E • History of maternal drug use, locludlng
~ Q2. What emergency investigations are methadone programmes
.t:
indicated? • Babies otten SIeE!p poorly, feed avidJy and
,; scratch ttlelr laces
1JI
o Sec Box 48.2.
e
:J Q3. What management are you going to
Withdrawal from maternal medication
• E.g. selective serotonin reuptake Inhibitors
Ql
arrange? (SSAls)
Z
• Take a good history of maternal therapeutiC drug
• Admit the baby to the imen<:ive care unit; establish use in all cases of neonatal seizure
monitoring.
• Co!'t urg!'nt glucose and hlood g:ts. Hypoglycaemia
• Establish intravenous and ventilatory support, if
• There can be a history of poor feeding or
required. maternal diabetes
• ,\rr,utge first-line im't;stig,1tiolls, including Illmhilr
• Diagnosis depends on pertorming urgent glucose
puncture (U'). promptly
estimation on all babies with seizure
• Consider initialing treatment with a loading dose of
phcnobiHbilill if seizur~ quirkly n;Cllr or if a single
Inborn error of metabolism
seizure is very prolonged (r.ue in Ihe newborn)
• Restrict fluid in babies thought to h;l\'c IIiE but • WOf"Sening metabolic aCidOSIS and seizures
diffICult to control
lIlaiulain glucose levch.
• l'I(plalll c;eizun- 10 Ihe parents blll do nOl try • Diagnosis depends on careful investigation
10 prognosticate tOO early; the prognosis ,,-aries
considerably according 10 tile CdUSC and accurate Intracranial haemormage (subdural or
prognosis n-quirt'S information from LEG and ....IRI intraparenchymal)
• More common after instrumental delivery,
particularly If multiple attempts or failed
Preterm brain injury instrumental delivery
Genninal matrix-intraventricular • Baby may be pale and may not have received
vitamin K prophylaxiS
haemorrhage
• This is the most common cause 01 seizure in
'111C prClerm brain is particularly vulnerable to injury preterm babies
because alllOrt>gulation of CHr is often impaired, asso-
BOX 48.2 Investigations and their significance in
neonatal seizures
Full blood count
• Anaemia, thrombocytopenia in intracranial
haemorrhage (ICH)
• Thrombocytopenia in hypoxie-ischaemic
encephalopathy (HIE), alloimmune
thrombocytopenic purpura
Urea and electrolytes
• Glucose is an emergency investigation
• Occasionally hyponatraemia or hypernatraemla
or hypocalcaemia can cause seizures
Blood culture
• Helpful in identifying organism in meningitis,
usually positive
Blood gas
• Early metabolic acidosis in HIE
• Worsefllng In inborn errors of metabolism, In
which case check the ammonia and lactate
lumbar pyncture
• Essential investigation to diagnose meningitiS
• Contraindicated if very low platelet count Of
severe respiratory compromise
• If cerebrospinal fluid (CSF) white cell count is
elevated (more than 30) but no organisms are
seerl on Gram stain, think of viral meningitiS; ask
for polymerase chain reaction (PCR) to be carried
out and give aClcloVif until result available
Electroencephalography (EEG) or cerebral
function monitor (CFM) trace
• EEG helpful in confirming diagnosis of seizure
and in assessing response to treatment
• Background EEG helpful in determining
prognosis in HIE
• CFM not as reliable but can be a useful cotside
mOnitor
Ultrasound brain scan
• First-line imaging investigatIon for all babies with
seizure
Magnetic resonance imaging (MAl)
• Second-line imaging chOIce in all babies except
those with suspected ICH who require CT
• Useful to determine extent of disease and assist
with prognosis
• Essential if ultrasound normal and stroke
suspected
BOX 48.3 Paplle classification of preterm brain
bleeding
Grade 1 Germinal matrix haemorrhage
Grade II Intraventricular haemorrhage with no
ventricular enlargement
Grade III Intraventricular haemorrhage with
ventricular enlargement
Grade IV Haemorrhaglc perlvenlncular Infarction
or intraparenchymal lesion; bleeding
Into the parenchyma of the brain
ciated illness Cl~ chal1]olCS in CBF and blood pressure
and the devdoping brdin (Qnt,lin!> the genninal m:urix.
which is silllati'd O\\?r Ihe he.1d of the caudate nucleus
in the floor of the lateral vCl1Iridc. The /o:Cnninal l1lillfix
has thin-walled \~Is and is often the site of blet'ding.
Blood clot in the b't'Tmmal malrix can obstrua the
draining vein of the adjacelll bmin parcndlyma. leading
to further damage frOIll hacmorrhagic vellOUS infar<tion.
This pattern of bleeding is called germinal matrix-
intrawntricular haemorrh.lge (G"tH-IVH). Bleeding inlO
the sumlance of the brain is oft.. n GlUed haemorrhagic
pcriwlltriOllar infamlon (IIPI) or intr.1panmchymal
lesion (I PL). Older books use the Papilc classification
for IVH (Box 48,3), butlllorc modern thinking is that
this implies a hit'nuchy Ihat <!O<'S not exisl and fails
to take into accoulll the fact that some lesions in the
parench)'ma ofthe bmill C,IIl b..: isch:H:mic.
Periventricular leucomalacia
In addition to bleeding inlO lhe pMcnehylTla of the
brain, preterll1 bahles ;,tn' vulner:ahle 10 injury to
the area in which white matter will form. This tends
to occur in the pcrivclltrirul<l1' arCil ,md i!> IHIIlled
pcrivcnlricuLH leu("olllalilci:l (I'VI.). In prelerm babies
the predominanl cdl lype in this area of the brain is
the oJigodendrOCYll.: pl'ccur~ur, ·l111.:SI' cdb cvclllually
111ature and make myelin, which begins to form at
around term. The oligodendrocyte prccursor cdl is
exquisitely VUlllCr.lble to d,II11<lge frulll frt:e r.ldic,lls and
-
m
C)
cylOkilH.'S. t\rea!> of d:lmaged rell~ rem:lin demyelinaled
in tho:: long term, :.iIld babies with cxtensive whilc mailer
:::t
injury usually have cercbral p.llsy ,IS ,I l"l,.':>ult. MRI (('\ie,lls -I
far marc white mailer d,IIlMge in groups of preterm
babies than was previously suspected with ultrasound
diagnosis alone. and the imporlclnce of loubtk change..
in the while lIldller remains to he delermined " here
is concern that even subtle white mailer injury leads
to altered connectiVity in the bmin, with cffcclll on lht:
conical and (enlral grey lTlal\o:~r This may Ix> the reason
why shon am'mion sp.1n and le,uning difficulties arc
commonly seen in \"Cry prctenn survi\'Ors. 367
 Key points: preterm brain injury in the firM 2-3 days and include irritability, tremor,
mmiting, diarrh~a, sweating and fever. Ihe drugs of
• Prctcrm brain injury is usually diagno~d wilh
abuse mOSt likely to be followed by neOIl,lldl abstinence
uhrasound scrccning in the nursery in a baby with
syndrome arc opioids. induding methadone. Babies are
no rlimcal signs_ Occasionally prest'lHation may be
oflen snuffly and scratch their f.1Ces Seizures can occur
"'ith anaemia. seizures and ,1 ten~ fontanelle.
but should be avoided by early diagnosis and effecli\'"('
"'
'~
• C,\.IH-IVlI is lightly linked with gcstalional dge
(large haemorrhages are mort' common in very
tre,lIl1lellt. Assc;smelll of the S<.vcrity of nt.:onalal
abslinenn'syndrome can IJt> made with a ~ringsystem
Ql preterm babies. panieularly below 28 weeks of
and there are a numOCr in common use around the UK.
"'
1J
ge..tation).
• Ilypercarbia. acidosis and hllli"mg are associau':d
11l(':~ ViiI)' in complexity and only one (the I;innt'go.,n

ffi with G~IH-rVH.

ch;ln) has been shown to reduce treatment duration
when compared to subicctive assessment alone. None
E • r'\!ll~ k~ tightly linked with gt.':>tational age than
of the (hans has been validated ,Ig"inst a lx>pulation
.!!l G.\itll IVII but is rare after 14 w..eks
of norm;tl babies_ Treatment is usually started with an

~
• Ilypocarbia and maternal chorio,lmnionitis arc
or,11 opioid. usually morphine up to a total dilily dose
,,<;sori,I1l,:d with rVI..
of 0.') mgjkg.. and few would now cnmkkr trCl\t1ll~nl
OJ • ~evere PVI that is cystic is .. "sociated wilh the
with Sl::'d,llive agents alone to bl::' adl::'quate. !'reatment
E developmellt of cerebral palsy.
is often required for around ,1 month. occasiollally
,; • SlIhlk while mailer damage i~ very common in
longn
OJ preterm babies but can only be diagnosed with
o
o Mltl; eMly research suggests that this ma)' be linked
to thc nellrocognitivt' and IJt:h:wioural problems Haematology
1ii that are common in prelerm survivors who do not
E h'l\"e cerebral palS)'. Basic science
m
s: 11ll,~production of blood cdb and platelcl5 from a
Slcm cdl line is referrt'd to as haenldtopoiesis and
~ Hydrocephalus the cells produced are known as haematopoietic
o
e:J
The occipito-frontal head cirrumferenCl" should be
Illeasured in all b.lbies at binh, ,md should be m~sun.-d
cells (Fig. 48.3). The 'mother' of all sh::m cells is, of
COli rsf', the fertili ....£<! o&)1e, but stem cell~ are defined
Ql againwhencvera b,l~'presentswithan illness Measuring as cells that can self-renew and can differentiate
Z the inf,ll1ts head is also part of dlild health surveillance into olle or more of the 200 cell types found in the
1IIldert"I.en by CPs and hCtllth visitors in the UK. The body. 'I ht're is rurrcntly great mtere"t in harve'lting
>- measurements should be plolled on a cemilechart; any stem cells from umbilical cord blood for usc in bont'
OJ devi,uion from the e:o.:pected traiectory along lhe cenlilc llldrrow transplantation. which is ,I rich somce of
o haematopoietic SIt'ffi cells.
o hill' c~lahti~hed ilt hirth "hould he taken seriously. A
In older children and adults haemalOpoiesis
1iic hahy with an enl<lrging hean rf'q\lirf'~ inve"tigiltion,
takes pl"ce ill the bone marrow. but ill the fetus the
initiillly with a crilni,ll ultr,lsound scan. although cr
g or MI{I should bt: perfortlwd if tlw diagnosis is not process hegins as early as the sixth wepk of pregnancy.
Z quickly apparent. in the Ijver, The liver remains an important site of
Not <III babit:s with enlarging heJds hJvC raised CSF hilClllatopoicsis until ({'rrn. llih'lll,ltopoit'sis i.s under
pr~"ure due 10 hydrocephalus. Other diagnoses are the control of cytokines; red blood ccll production
important. such as subdural haem:uoma and benign is stimulated by erythropoietin, white cells by
cntar~cl11ent of the subarachnoid space. BJbies tolerate different colony stimulating f"cloN (e.g. granulocyte
raised leI' beller than aduh~ bt.."Causc the skull is not colony stimulating factor. C-('$1') and platelets by
fused, but ewmually signs \dll develop These include thrombopoietin The production of red cells and
sunsclling of the cycs. bulging fontanelle. prominent haemo~lobill falls dramaticall). after birth. probably

scalp ...eim and \·omiting. '\leurosurgical help should
be sought but in an emergency CSI C,1I1 be drained via
an LP or OJ vcntricular tap.
Neonatal abstinence syndrome
'-":t..'Olliual ,lbstinence syndrome can present at allY time
368 ill tht., fir~t2 wecks oflife, btU in general signs are present
because of Ihe sudden increasc 111 ti~ue oxygenation_
Production gradually increases so that by 3 months
a healthy bahy Gin produce around 2 ml of rt.'<I cells
each day Ilowever. the reduced capacil)' for formation
in the carly weeks. combined with d shortelled red
cell .. urvi~1 and a nc(,:d for frequent blood :csts.
leads to anaemia in preterm babies In fetal life the
pTt."<lominam haemoglobin is haemoglobin E which
ha~ it greiHer affinity for oxygcu Ihan haemoglobin t\.
 srem T cells
cells

•
... B c;ejIS

""""'"
p"tlget1tOr cells ... ...
P1a:elels "-
1 /' ..,
;::i
•
""""'"
EOSl'lOphuS

.......... •
0
- - 0 - ""-
I \
. .'·..
Fig. 48.3 Haematopoiesis

Produdion of haemoglobin A remains at low levels Q3. What is the appropriate management for Chloe
until after 30-32 wcc"s of prl.'gnancy, and form:-. about and what is the prognosIs?
20-2'i% of lOla I h:lE':llloglobln alterm

Anaemia
Q1. Is Chloe significantly anaemic? What
Problem-orientated topic: is the expected haemoglobin for a
baby of this age?
pallor
The normal haemoglobin ,It birth i1> high COI1lP.H~J
Chloe i~ born by emergency caesarean to adult life ill 15-23 g/dl, ;jlltl ~lIlY h.1hy with a
scctlon at term, Her mother, a 35-year~old haemoglohin of less than 111 gjdl on a properly taken
physician, presented to the hospital because sample should be considered 10 h<lVl' dll,Wllli,!. NOI all

she noticed that Chloe had not moved at
all that day. A cardiotocograph (erG) hal?
shown reduced baseline variability with
decelerations. At surgery, there is meconium-
stained liquor. Chloe weighs 0.5 ~ and hal!>
Apgar score6 ofo' and 6 5. She responds to
bag and mask re6U6citation but is admitted
to the nursery becau6e 6he is noticed to I;Ie
pale and is grunting slightly. Her haemoglobin
is 8 g/dl.
Qt. Is Chloe Significantly anaemic? What is the
expected haemoglobin for a baby of this age?
Q2. What are the most likely causes of the anaemia
and how can this be investigated?
m
-
such babies w111 need d blood tr"mfllsion, bUI all sllch
lXlbies cenainly dese....·c investigation into the cause.
The haemoglobin level f.llls over the tir1>1 few weeks of
life in all babies, reaching;\ nadir o( around 10 gjdl Q
al <lbout 2 mOnlh~ I'reterm babies have a more ",pid
and steeper fall. J:
-I
Q2. What are the most likely causes of
the anaemia and how can this be
investigated?
Inere arc thrcc In<Jin p,roups of Jisorckrs lhal Glme
noonatal anaemia, and sUllie hahles have morc than
one problem allhe "arne timc. ·Inc p,roups .Ife:
• Impair('(j red cell production
• Increased rcd cell dcstruC"lion (h.umlOlysis) 369

BOX 48.4 Investigations and their significance in
anaemia
Maternal Kleihauer test
• Shows the presence 01 fetal red cells in the
matemal circulation
IJl • Important to diagnose fetomatemal haemorrhage
·iii as a cause of neonatal anaemia
c.
Ol • Often a history of reduced fetal movements and
IJl there can be eTG abnormalities
1l
• Baby pale right from the start of Me
~ Full blood count including reticulocyte count and
E film
.!!l • Low white cell count and platelet count
iE
combined with anaemia suggest a marrow
problem
• Low reticulocyte count also suggests a primary
failure of red cell production due to inherited
~
disorder or congenital viral infection
• Elevated reticulocyte count suggests haemolysis
~
• Red cells may be seen to be an abnormal shape
on blood film, e.g. spherocytosis
E Blood group and Coombs' test
~ • Positive Coombs' test suggests alloimmune
I: haemolytiC anaemia due to blood group
,:; incompatibility ben','een mother and fetus, e.g.
Cl ABO incompatibility, although the test IS not
o
e~
always suffICiently sensitive
• Non-immune haemolysis is usually due to red cell
membrane disorders, red cell enzyme deficiency
Ql
Z or a haemoglobinopathy (e.g. thalassaemia)
Liver function tests
• Elevated unconJugated bilirubm level supports
haemolysis
• Family history
• Some cases of congenital anaemia (e.g.
Diamond-Blackfan anaemia in some families) are
autosomal dominant
• SpherocytosIs is also an Inherited disorder with a
history of intermittent aplastic crises in affected
family members
• Ask about splenectomy in family members
• mood loss.
Investi~ations are described in Box 48.4
Q3. What is the appropriate management
for Chloe and what is the prognosis?
COll!>idt:rittion should be F,i"cn to blood transfusion
\,'hl'l1 :t It'rm baby j<; foulld 10 he significantly anaemic
shortly after birth and ;n prelerm babies who are ill
370 with more modest anaemia. The appropriate blood
product i<; ll::ucocyte-depleted cytomegalovirus (O..tV)-
negative concentrated red cells. ideally from a cross-
matched salcllite pack. Irradiation is oflen lISed 10
31l1elior:llt: the ri:.k of graft V('~us hosl {Ii~ase, and i'i
important for lOp-Up or exchange transfusion in babies
who received blood products in ulelC. Preteml babies
n~d iron "tid folate supplclIlClllitlion. Lrythropoielin
(,In be used 10 treal the andemia of prematurity.
although the reduction in transfusion requirements
has nOl been impressive.
Vitamin K deficiency bleeding
Newborn babies have low lC\'CIs of vitamin K-
dependellt procoagulant facton., and continued Vilillll in
K deficiency can lead 10 vitamin K deficiency bleeding
(VKI1I.l), sometimes termed hacmorrhagic disease of
the newborn. Vitamin K supplt.:lIIclltatioll prcvCI11.~
ITlO~t C<lses of VKDI3. ·n1t~n: is " very early form that
occurs in mothers receivin~ medication that interferes
with vitamin K metabolism, e.g. phenytoin, which
requires maternal vitamin K administration in addition
to neonalal supplementation. Originally, vitamin K
\\-J.S mainly given by intramuscular injL'Clion but since
1?l)2 there has bet'll controversy aOOUi tht> roUie of
administration The debate waS gt>nt>rated by a Study
showing a link between intramuscular vitamin K and
later rhildhood malignancy, and in spilt> of the fact
that sewn of nine further studies on the same topk
have failed to confirm the link. the dcbate continues
to ragt>. Oral vitamin K preparations are a"'<Iilable and
have nOl been shown to be linked to laler malignancy.
bUI there is concern aboul ullpn.-dictablc absorption
and parental compliance with the multiple oral doses
that are thought to be required to prevent late-onset
VKDB. With no vitamin K prophylaxis at all. the
incidl:llrcur lalc·onset VKDR is <thout 7 Hl 100000
births.
VKDB is much more CUllllllUl! ill Lrcaslfcd babies
because lhere are vel)' low amounu of vilamin K in
breast milk, and i[ hJ.s also been suggested th.lt [he
~ut bacterial flora of brcastfed babies produo..>s less
vit;lmin K th,m that of fonnula·ft'(1 inf;lllis
VKDH can be categorized as follows .
Early
,. Presents within 24 hours of birth.
,. Uncommon now wim modern standards of
obstelric care
,. Most likely to occur in babies born to mothers
taking drugs such as anticonvulsanls during
pregnancy.
,. Sites of bleeding and bruising in....o lve areas related
to birth trauma (e.g. cephalhaclIl'lloma)
• ...Iay pre~~m wilh melaena or intracranial
haemorrha.ge.
Classic
• 40-50% of cases ofVKDll
• Prcsellls between I and 7 days following birth.
• Primarily occurs in bre<l~lfed babies ancltho~e
hom to mothers taking procoagulant medications.
• Typically prcsents with blt.:cding from the cord
stump
• May also present with melaena haenutcmcsis
or bl~dillg from the orill or nasal mucous
rncrnbrant'S.
• Does not usually in\'ol\... inuacraniallMemorrhage.
Late
• IVI:linly occurs in breastfed babies.
• M.lY also OCCUI' <IS a compliCillion in babies
\vilh conditions causing cholestasis, such as
Ct. -antiuypsin deficiency. and in babies with
malabsorpli\'c conditions such as CYSlic fibrosis
• Infants who are treated wilh long-term broad-
spectrum antibiolics rna)' also be at risk b...>C3USC of
reduction in bacteria Ihal produce vitamin K.
• C1assicillly pr("S€'nts wilh signs of sudden
illlracrani;"li haemorrhage.
Diagnosis
The diagnosis is b,Ist.'<i on a prolongation of Ihe pro-
thrombin time. Ihe platelei count is normal andso is the
fibrinogen level; the baby does not have dis:.cminated
inuavas<:uldr co.."lgulation (Ole). In severe caSt'S Ihe
pani'lllhromboplastin time is al50 prolonged.
Management
J'reatment is with vitamin K. eilher orally or intra-
venollsly. dq)cnJillg on the severilY of the situation, 111e
prlllhroinhin lime rnpidlycorrecrs to nonnal once vitamin
K is given. Fresh frozen plasma may dlso be required
for babies with ~.:\'t::fe or continuing haemorrhage or
illlraCr<lnial hat'morrhage_
Hl~ding in the neonatal period is not .lIWll)'S due
to "KDB. and other causes 10 consider are'
• Tr:lUrna, including non-accidemal
• Die
• Inherited coagulation disordcls, e,g. hacmophilia
• rlatelel prohlems (see below)
• Caslrointestinal pathology. e.g. tlccrotizillA
enterocolitis (NEG).
Haemolysis in the newborn
Ilaemolysis is a relatively common cause of neonatal
,lllaemia. TIle dia~nosis of ha\."lllolysis is suggesled
by ,lllacmia unconjugated hyperbilirubinaemia and
a high reticulocyte ("OUn!. -Inc Coombs' tcst may be
posilive, suggesting a diagnosis of immune hacrnol) tic
disease. The main causes ofhaemoly~is are:
• Ilacmol}'tic di~~A~ of the newhom (I tOl').
il11mune haemolytic anaemi.l
• Red cell membrane disorders
• Reu cell em:ylllop<llhies
• llaemoglobinopathies.
The most cOlllmon CdUse of C.oombs'-posilivc
haernolysis i~ linN du(' to the uansplacE'llIal pa~s."lg{'
of IgG antibodies against rhesus antigens or antigens
of the Duffy (P) or Kell blood group systems. IID:-.J
can al<oo bt' cau<;('d hy antibodies to the ABO !»'::Ilem.
in which case it mainly accun. in habies horn to
mOlhers who Mc blood group 0 ,Hid whose babies .ue
blood group A or H. Ilaemolysis due to anti~A is morc
common than that due to anti-It
In modnn ob'iletric praClice mOlhers with rhesus
antibodies are Ilsually delecled during pr\.)\Il<IIU)'
and carefully monitored. '1111.: timing of delivery is
a Ulallcr for di~llssion and rt'quires cooper,uion
belWrtll obstelnc and ncon,llal slaff with input from
specialists in tr,lnsfusion Ill.......tidne (in \a!>t.' frt.'Sh
blood for an exchange lTamfWiion is required), I'clal
tr<lllsfusion has revolUlionized lhe managemellt of
severdy rhesus .. ffected babies, so lhal hydrops i~ tlOW
rare. Further. lhc u~c of !Inli-I) illlillunoglobulin given
10 rhesus-negalive mOL hers in pregnancy and .ther the
binh of a rhesus-positivE' baby (and at other time<o
such as external n:phalic 'wen.ion when felOmalem.ll
haclllorrhage could cause sensitizalion) has rcduc...-d
the number of affected wOlllen ~ul>slantially.
'111e treatment ofsevere hat>molysis is wilh exchange
transfusion, which com~C1.s the anaemia Jnd washes
Dill lhe bilirubin Babics with mild haclIIolysi!> ColI1 be
managed with phototherapy inili'llly and a 'IOp-Up'
tf'",-)I1.~fu'iiol1, if required. later 011. Folic acid musl be
given to all babies with haemolysis.
m
-
Glucose-6-phosphate dehydrogenase C)
(G6PD) deficiency
nlis roo cell enzyme disorder can prCSClll in the
:I
neonatal period, usually with lll,uk...-d jaundice bUl -I
not with anaemid, G6PD deficient)' is X-Iin\.:('d and
hcnce is r<lfe, bIll nOl unknown. in femalc babies.
Ihe disorder has a high prcvdlcllcC in cenlral Africa.
the Middle Easl, lrojliGil and whlropical ar('as of Asia
and the Mt'diterr,lllean. Ihe ~eographical distribution
mirrors. to some extent thal of llldlaria and C61'D
deficiency is associalt'<i with a Tl'duced susceptibility
10 malaria. -...JOI all babies wilh GGPD dC'"...lop marked
hyperbilimbinaemia bUl man)' do and kcrninems 371
 can occur. Currenl thinking is that the combination
of G6PD deficiency and Gilbert's syndrome is the
explanation for rhe very severe hyperbiJirubinaemia
seen in some babies. Once the diagnosis is made,
parents must be counselled about foods and medi-
rines that can trigger acute baemolysis, Examples
<Jl
'iii are antim<llarial drugs, broad be<lns (fava beans) and
Q. sulphonamide antibiotics (e.g. Seplrin). Most people
<Il with C,6PO ddicicncy do t101 have chronic haemolysis
<Jl
1J and do not require folic acid.
ffi
E Hydrops
,!!l Hydrops describes the condition that occurs when
i
the fetus has excc~s body water, with massive sub-
cutaneous oedem<t oflen accompanied by pleural
and peritoneal effusions. Ilydrops is not a diagnosis
E but is the end result of a number of disorders. The
,; condilion is serious, with a high mortality, and it
8' is important 10 try to make a specific diagnosis in
~
order to counsel parents about lhe likely outcomc
for future pregnancies.
E Ilydrops can be caused by fetal anaemia, in which
~ case it does not u~ually dcvelop in fctal life unless the
.c fetal haemoglohin is less than 5 g/dl, lind it is often
around 3 gjdl. IIDN due to rhesus immune disease can
6i
o
cause hydrops, and ABO incompatibility c.ln be severe
enough tocause hydrops in very rllre .aSL"S. In th{: pasl,
e
~
rhesus iso-immunization was the most common Clluse
<Il of hydrops. whidl is often classified into 'immune'
Z and 'non-immune' categories as a result.
Other imponant causes of anaemia causing hydrops
<If(' crythrovirus 19 (parvovirus B19) infection. Alpha-
~ thalassaemia maior can also cause hydrops and prcdo-
g minantly affects families of South-81st Asian origin.
~C Both parents of a baby with a-thalassaemia major
will be C<Hriers of the gem: (localized to chromosomc
o 16) and will have hypochromic microcytic anaemia
<Il
Z themselves.
The broad diagnostic .alegories of disorders that
can cause hydrops are:
• Ilaemolytic disease of the newborn (rhesus iso-
immun iZllt ion)
• Cardiac disease causing raised cetHral venous
pressure
• lntratlloracic space-occupying lesions interfering
wilh lymphatic drainage
• Livcr and gUl disorders
• Congenital infection
• Metabolic disorders
• Chromosomal disorders, e.g. trisomy 13. 18,21
• Fetal anacmiil
• Syndromes, e.g. Noonan's
• PI,Kental abnormalities
372 • Maternal illJometdcin therapy.
The delivery of a baby with hydrops is an emergency,
and intubation can be difficult becausc of oedema. An
attempt should be made to resuscitate the bahy lind
aspiration of pleural or periloneal fluid may make
resuscitation easier. Investigations should be set in train
as soon as possible to invcstigate the CJUSC because the
bahy milY die early in spite offull intensive care.
Thrombocytopenia
The normlll plalelet count in lhe newhorn is the saITH?
as that in adults: above 150 x 10 9/1. Thrombocytopenia
is J. common problem in the newborn period, parti-
cularly in sick prcterrn babies rL"Ceiving intensi\'c C<He
when it is often all indicalor of sepsis.
Many of the possible causes of thrombocytopcnia
are very rare, but for practical purposes there are
only a few conditions thaI must be remembered and
understood.
Early-onset « 72 hours) thrombocytopenia
'111is is common in growth-restricted babies who ha\'e
been subjected to placental insufficiency causing a
degree of chronic intrauterine hypoxia. Thes~~ hahies
have reduced numbers of progenilOr cells, but the
condition gradually resolves over a period of time. The
thrombocytopenia is not usually vcry severe hUI on
occasion platelet transfusions are required.
Babies who do not haye intrauterine growth
restriction (IUGR) but who an.:: found to have early-
onset thrombocytopenia may have the condition of
neonatal alloimmune thrombocytopenia (NArrp) -nlis
is the platelet equivalent of llDN anJ occurs when a
mal her forms ;l1ltibodies againsl her baby's platelets as
a result of exposure during pregnancy (usually a platelet
group HPA la-negative mother with a HPA la-positive
baby). -Ihe condition can cause severe thrombocytopenill
with platelet counts below 30 x 1O~/1. and the baby may
present with petL'(~hiae or imracraniill haemorrhage in
aboul 10% of unlreated cases. Treatment is with com-
patible platelet tr.'lnsfusion if available or random platelet
transfusion together with intrayellous iuununoglobulin.
Autoimmune thrombocytopenia
CJ.used by the placental transfer of platdet antibodies
from a mother with idiopathic thrombcxytopen ir purpura
(I'IV) or conditions such as systemic lupus erythematosus,
autoimmune thrombocytopenia may also occur in the
lIt.XJIlate. TIlC risk of intracranial haemorrhage is al)()ut
1%. In babies wilh platelet counts below 30 x 109/1.
who are olherwise well, the current advised treatment is
intravenous immunoglobulin.
Late-onset thrombocytopenia
This is often associaled with s}"'Stemic diseasc, either
l.:ue-onSCI sepsis or NEe. l1Hombocytopt:nia can also
be a dut: to congenital infection wilh CMV, fOXOpltUlnJI
or ml>t:l1a
Platelet transfusions are indicated if lhe platelet
count is Delo\\' 30 x lO"/l in an asymplomatic baby,
and below ')0 x 1O'f1 in a baby who has a bleroing
problem « 100 x 10'/1 if there is major h,lt:morrhage)_
111e tlldin risk of thrombocYlopenia is intracranial
haemorrhage
Metabolism
Neonatal jaundice
Basic science of bilirubin metabolism
Hilirubin is produced as a bn>akdown produa of
haemoglobin During the breakdown proCl.::.s t.he iron is
n.:us..:.-'d and a molecule of carbon monoxide is exCrt'IOO.
Carbon Illonmide can be measured in bn>alh and the
ronttntr.'llion isan index ofbilirubin fonnation. Bilirubin
is transponoo tu the liver in lhe pl<t:.ma, largely bound to
albumin.l1lis form of bilirubin IS termed 'unconjugated'
or 'indlrt'et' bilirubin (the teon indirect comes from the
way lhe l.looratory tests arc used). n,crc it is taken up
by tilt" hq>alic conjugating system, forming 'conJugated'
or 'dire«' bilirubin. ConJugated bilirubin is water~
soluble and is excreled inlO bile. Rile lravels in the
bile duCls to the small bowel and bilimbin undergoes
funher metabolism in the gastrointestinal tract. SOttle
bilirubin ill the small bowd is demnjug:llfcl again by
<In ell/.~'n1l', f\-glll('uronidase, and il can be reabsorbed
from Ihe Ilimen of the small bowel. 111is Jdds to lbe
load of unconiugatcd bilirubin. This 'cnlcrohepafic
rccirnllaliol1' of bilirubin is a p:lTliClilar problem in
babie~ who are nOI flllly fed or whose bO\\lcl is nOI yet
cololli~d by norlllal flor<l. In felal life llnconjugaled
bilirul)ill c<ln easily cross the placellfa for disposal by
lhe m;uern.,1 liver, and maternal liver disease call lead
to high bilirubin [('Vds at birth.
Jaundice (including biliary atresia)
laundicc is cxuemdy common in nt.'\\-born babies and
60% of all \\-hile-skinnro babies are ViSIbly jaundiced
in Ihe firsl week of lifE'. The kE'}' problems in neonatal
jaundice arc in dClennining when jaundice is a sign of
more ~eriollsdiseaseand in the pfC\-"Cniionofkerniaems.
KerniCterus occurs when unconjugated bilirubin crosses
the blood-brain barrier. Once inside the brain bilinlbin
b loxic to lhe <!t'ep grey maller, the globus paJlidus
in panimlar. Children who survive aalte bilirubin
encephalopathy only to develop kcrnicterw. arc usually
profoundly disabkJ by athefOid cerebral I)alsy and
sensorineural c1eafness Kemicferus can be prevented by
amiding high INeis of unconjugated bilirubin, usmg
phototherapy and cxdunge tran:.fu~ion.
@ http://www.pickonline.org
Hypefbilirubmaernia. A US webslte for parents 01
childf8ll brnIn-damaged by bilirubIn, IncludIng Yldeos
show,ng lhe long-leon effects
PhOtolhcrdPY works by providing photons of light
energy in a wavelength likely to be .lbsorbcd by lht:
bil irubin molecule, which enters all C.'(ciICd sl<llt'. ,\bOIlI
80% of the lillie lhe bilirubin molecule losE'';; the excess
energy and returns 10 normal, bUI aboul 20% of the
lime a photochemical reaction occurs; (!lese I'eanions
include conflgur.lliOllal and .~lruntlral i,;;omcri7;Jtion,
and photo-oxidalion. Ihe photoproduclS {which
include lumirubin} are thought to be mort' w,ller·
soluble than unconiugaled bilimbin :md hence more
rapidly excreled in bile. 'I"e rate of bilirubin dt.-dinc
is proponional to the dose of photolher,lpy, ,mel in
babies with :.e\ll're j<lundire il is imponant to expose
as much skin as possible to light of an .lppropriatc
SPfffrum and to use adequate irrildiance (mort: bulbs.
well maim.lined).
f laelll<llological Gluses ofnronatal jaunditt are com-
mon and usu,lIly related to haemolysb (~'C .11)()\.'e).
They include.
• Irnmulw haemolysis (II Dl'.): rhesus, ABO, Duffy
or Kell incompaltbility with matern:11 alltibcldies
• I~d cell membrane disoreler~, e.g. ,;;pheroc)'tosis
• Red cdl el17yrne disorders, e.g C6PD deficiency
• I laemoglobinopathy (rare)
• Infection c.lUsing hileJllolrsi.~, C.g. r:MV,
loxopl<lSlllOsis, s~'philis,
Problem-orientated topic:
m
late-onset jaundice
lucy is a 15-day-old "aby who was "om at
37 weekE;' gestation and who required
-
Q
respiratory support for 3 days. She was slow :I
to estal;>/ish feedl5 M 16 now on full feeds of -I
l7reast milk. partly through a nasogastric tul1e.
She was first not&! to "e jaundiced at 7 days
and tl1e lev8ll5 of "llInJ"ln are slowly rising.
Q 1. What IS the definrtron of late neonatal laundice?
Q2. What IS the main differentIal diagnosis?
Q3. How would you assess this child?
373
 Q1. What is the definition of late neonatal
jaundice?
Prolonged or late neonatal iaundice can be defined
as visible j,lundice - serum l>i1irul>in > 85 .umoljl
- persisting or u<curring al 14 days of age in full-term
'a."
'iii babIes and at 21 days In preterm infants.
''c""
1) Q2. What is the main differential
diagnosis?
11l
E The mOSl common cause a! prolonged jaundice in full·
It:nll illfants is benign ,Iltd .lttdhutable 10 breaslfeeding;
2'11l" up 10 <,% ofbre.1Stft't'ding infants are still Jaundiced at
28 days of age. Ilowewr. late-occurring iaundice can
a; be an imponalll Si~ll of .1 number of relatively rnre
E condilions. the long-tE'nn outcome of which may be
f.wour,]bly influenced by early diagnosis. lncse include
,;
Cl congcniLlI bili,u\' dlroi.l, mngcnital hypothyroidism
o and !}llariosaemia. I.ate Jaundice can also be a sign of
(5 acute illness. such as urinary infection or septicaemia.
15 or of persisting hdClIlolysis.
E In prell'rIll infilllls the mosl common cause of con-
~ lugated hnwrbilimbin.lemia is paTemer.t1 nutrition.
J:
g; Q3. How would you assess this child?
o
e~
In assessing infants wilh laic jaundice the following
Me imparl.lll! <.jucs!ions 10 ,lddrcss:
Z'" • Is Ihe h,lhy ullwell:
• Is the urine dark ,llld/or are the stools paid
• Is tlll' serulll!pldsllla nllljug<l,cd bilirubin
~ concenlralion r:lised (> 15% Dfthe tDtal)?
.Q
o A liSI Df G1USCS Df prolonged/laiC iaundice is shown
15c ill BOXl:S 485 and 48.(,.
o
Z'" Galactosaemia
CaladOS,l('mia i~ ,m extremely rMC discase with a
fn':ljuelll..l' of ,.pproxilllaldy J;4'}()OO in ,he 11K, and
i~ a rt'(I;'~~iH' gt'.lt'lic disorder. II is due tD deficiency of
the enzyme g.llaCiose 1 uridyl transferase, an enzyme
invoked in the conversion of galactose intD gluc.ose
(galilnosf' is clt·rived from lanose, milk sugar, which
is broken down to g,llaclose and glucose). Classically.
babies prest'nt tow,m.!s the end of the first week with
vomiling. diill'rhOt'il, failure 10 thrive and jaundice_
Ihey may present with signs of VKDB due to the IkeI'
discdSt:. There is ,Ill ,Issoci,ltion with sepsis, most
commonly iln /:.s.:hnidlul «.1/ urinary Irad inferiion
th.ll (",m callSt' seplic,lemi:l Cataracts often form very
carlyon and. if not rc(~nizcd and neated. lead to
374 \'isu.11 impairment from itmhlyoria
BOX 48.5 Causes of late unconjugated
hyperbllirubinaemia
• Breast milk jaundIce
• Haemolysis:
- Blood group incompatibilities (ABO and rhesus)
- Spherocytosis
- G6PO deficiency
• Increased enterohepatic circulation:
- PylOriC stenosis
- Bowel obstruction
• Endocrineimetabol,c:
- Hypothyroidism
- Hypopituitansm
-
Hypoadrenalism
GaJaetosaemla
- SePSIS:
Systemic
Urinary
The diagnosis can be suspectcd iflhere arc reducing
substances presenl in Ihe urine, Inn lhis teSI is not
sen'litive or specific and mUSI bE> confirmed by the
analysis of erythrocyte g.ll.lCtose-I-phosphate uddyl
transferase. Affected babit::> lllU'l1 bt' gi"en a lactose·
free diet. l>eot achieved in infancy by u'ling soy milk.
L1nfonunalely lhe IQ is often permanently alTl..'Ch.."t.l
by the lime d diagnosis b lt1<lde ,tIld treatment begun.
e"en Ihough the lh·er disease recovers and Ihe cataracts
can be trealed (or may re~ress somewll<lt). In lht>
long «:flll ostcoporo.\is i\ a complie,ilion and dietary
calcium Mlpplernell1,llion I~ required. Young womcil
with galactosaemia require hormone rcpl<lCCmell1
ther,lpy.
A scret·ning H·~t on lht' bloDd s.llllple currently
collected (or phenylketonuria screening would be
possible but is not comilkn.:d fOsl-eff..:nive at prt>serJL
Hypoglycaemia (see "Iso p. 128)
Basic science of glucose metabolism
IIt>althy adults mainta;n serum glucose lC\'Cls wilhin il
very light range of 35-7 mmol/I during filsting or after
medls, dud they do this on a diel in which the m:lin
energy <;ources are fal- and sugar based Maintenance of
semm glucose depends on a fecdback loop involving
the li\'er. the p,lllcrcas and the process ofglycogenolysis
(lhe breakdm"n of glycogen Stores to make glucose)
(fig. 48.4). Gluconeogenesis is the process invol"ed in
the production ofglllCOSC from prealrson>such as amino
acids, lariate, and glycerol derived from lipolysis. The
felus cannot m.lke glucose from glycogen, and is wholly
dependelJt on a supply of gluco"ot' via Ihe placenta 'Ine
feilis dOt"! mit!..e glycogen, and the liver stores at lerm
 arc sufficient fur dlJoul 10-12 hours of fa<;tlng At
BOX 48.6 Causes of conjugated
hyperbillrublnaemia binh, the fetus is disconnected from the cOlllinuous
supply of glucose and hilS to adapt quid..!y to lhe
Cholestasis fast-ft..'Cd cyde; glucose levels fall ,md thert: i<; a surge
• 8 lIary atresia of glucagon and a fall in insulin levels. It takes more
• Choledochal cyst than a few hours for the newborn b.lby to switch all
• 'Inspissated bile' syndrome (following glucolll.':ogenesis. During the im..'\'itablt: fa::.tillg pha::.e
haemolysis) of lht': fiT"it few days of life (the volume of colostrum
• CongenItal bile duct hypoplasia (AJag1Ile's is very small, about 7 ml per feed) the baby's brain
syndrome) can use ketone bodies as an ahernati\ie fud -Iht'Tf is a
• Gallstones brisk keTogenic response in the nonnal baby. and the
neonatal brain can extract ilnd usc ketollt..'li much morc
Neonatal hepatitis syndrome
cfficicllIly thdll Ihe adult brain. I1lt~rt: i<; a suggestion
• Idiopathic neonatal hepatitis syndrome
that formula feeding interferes with the ketogenic
• Intrauterine infections (e.g. 'TORCH' infections -
rf'Sponse, and this thinking is behind much of the
toxoplasmosis, T\Jbella. cytomegalovirus, herpes
current advice regMding iniliation oflm':<lstfl't'llil1g.
simplex)
• Alpha 1-antitrypsin deficiency
Definition of hypoglycaemia
Metabolic
[n recelH yeMs lhe toler.mn: for luw bloud sug.lr
• Total parenteral nutrition (TPN)
in tlt'\vborn infant~ h:ls inne:l".o?<1 so thai it ic: now
• Hypothyroidism
accepted that low blood sugar [C\'ds of < 2.6 mlllal!l
• Cystic llbrasls
should be trcilll..'{\. Studies havc suggl.'Slcd tlMt hluod
• Abnormalities of carbohydrate metabolism, e.g.
sug<1r values bt:!ow this are as.'\O("iaied wlIh poorer
galactosaemla. lructosaemia
neurodt?\1"lopmelllal outcome and acute deterioration in
• Abnormalities of bile acid metabolism
neuro[ogICi1I function measured byevokt..'d potenti,lls.
• Abnormalities of lipid metabolism, e.g. Niemann-
PIck type C
Causes of neonatal hypoglycaemia
• Abnormalities of amino-aCId metabolism, e.g.
tyros1naemla See Box 48.7.
• Congenital peroXisomal disorders, e.g.
Zellweger's syndrome
BOX 48.7 Causes of neonatal hYpOglycaemlB
• Hypop,tultarism
• Sepsis Transient
• Urinary tract infection • Developmental lags in gluconeogenesis and
ketogenesis
• Transient hyperinsulinism; infants of diabetic

-
Raises

"""
High blood sugar
promotes insulin
release
•
mothers
Reduced glycogen stores: IUGA, HIE
Persistent
• Hyperinsulinism:
-
m

"'"
t +-
Glucasoo
snrnw:es
breakooNn
d_
1
~
- IdiopathiC hyperinsulinism
- Potassium-adenosine triphosphate (ATP)
channel
- BeckWith-Wiedemann syndrome
Q
J:
• ,- • Counter-regulatory hormone deficiency: ~
_.boo
S'Jm1A6:e. - Panhypopituitarism

! 1 - Isolated growth hormone deficiency

,---
d <tl'Oll"' - Cortisol defICiency

l_

."'....." r 15500 ceJls

(rr JScl8
Iudney e:c.j
j,-
- ..... La.... blood sugar
prorrIO:es glI«:agon
• Glycogenolysis disorders:
- Debrancher deficiency
• Gluconeogenesis disorders:
- G6PD defICiency
- Pyruvate carboxylase deficiency
• Fatty acid oxidation disorders
Fig. 48.4 Regulation of glucose 375
 Hypocalcaemia, metabolic bone re...ised its vitamin supplemenlation poli(')' 10 Mlvisc
th,1I all br~a ..tfed infants, and those on mixed feeding
disease and vitamin D-deficient rect>iving less than 500 ml offormula d.1By, shoulJ be
rickets givt>n 200 IU of vitamin 0 daily_
Rickell> prOclits with the sign.. ofh)1xx:alcaemia and
The serum ioniLt'd calcium 1L,,'d r.dls in ...he firs!
the bony changes are diagnostiC. X m}'s show cupping.
14 hOlm of lift:. ilS,illoUIll contiml('S 10 be takell up into
"'
"iii
0.
lIe-wi)' forming bone. ('ven though Ihere is a cessation in
the c,llcium supplied via the pldCCnt3 and it I>oslna(;l!
fraying and spl.aying of the mClaphysb of a long bon('~
and the changes are often besl-.een atth(' wrist Iheskull
$ ~urg(' in Gl.kitonin. -nle failure 10 calcify newly fonning
bones <lrl' softened, termed craniotabes, Ilypocaicaemia
u can present with seizures in LIne m..'UlI;ltall~ri<xl. I{ickels
C bone .ldequately cventually causes rickels.
is most often due to simple dietarydeficien0~but mrely
ttl '111(' definition of hypocalclt:l11i,1 thus varie"l accord-
can bt> due to a non-fllncuonin~ \.;tamin 0 r("(eplOr
E ing lCI !loslTl:l1al age, wilh it lower limit of normal
(\-itamin D-resistant rickets). reJ1<11 i..Iise,ISC ur familial
"' dunng Ihe first day. Total serum calcium should fall
fornl~ ofhypophosphataemic rickets.

~a;
in the range 1.18-2.48 lIulIol/l (iuniLcd 0.81-1.4\) all
I'rf'lerm babies are at risk of de\'elopin~ metabolic
the fir~1 day.•l!1(1 rise 10 2.26-2.(,') (ionized 1-1.5) by
bone disease. which can progress to rickets if left
the end of the first week of life.
Ut)\n:::"lcl.l, bccau!>c lhe dklary supply of calcium and
E Sip,ns of hypocalcaemia include:
phosph'lte is insufficient 10 meet Iheir needs. -111cse
• Inil,lhilily, twitching
~
babit>S usually haw a low serum phosptl<ltc wilh a high
• ~iztlres
o "IIwHlle phol>ph;uase and their bOllel> are deminerali7ed
• Lethargy
o • rt't'll inlokrance, vomiting.
on X-ray. I-ractures can occur, panicularly rib fractures.

~
The emelgenC}' lrealmC.,t uf lol'lIlptomOilic hypo--
I'Jrly hypocalcaemiJ is common in preterm babies, calcaemia il> with intravenous 10% C'Alcium gluconale,

"
~
inf.lIlts of Jiabelic moLlu.>rs. IMbics \\ hosc mOfhers
had poor \-itamin IJ SlalliS during pregnancy (often
gi\'t'n uwr 10-60 minutes Babies C;1I1 then be st,med
on oral calcium and calciferol whilst confirmation of
immigrant mothers), and babies stressed by perinatal the diJgnosis is sought with X-ray... Phosphate supple-
~
o
hypoxia. mentation is not n'Quirro. exCepl for prt'term babies.
Pl'~i~h"lll hYlloc<llcaemia su~oesls hypoparath~ midism, ""'hen a diagnosis of rickets is madc ill a baby who wa~
e
:J
Jnd a bJbrwho IS hypocalcaemic and who also has cardiac born at term, of norm<ll weight, evidence ofostromabcia
disease should oc cht-ded fur Di C....,orge lo)'ndrome by should be M)ught in the mother, whose ..ita min D status
"
Z examining tht" dlromoSOlHt'S for the characteristic 22qll
deletion Ihere are a number of other rare genctic
IS likely 10 bE- marginal. and the olher dlildren in the
family shoulJ be ill\'eSligat<--d for ril'kt'ts.
>. causes of hypoparathyroidism l>uch a~ I{DR l>)'mlronH'
(llYPOPiH,lIhyroidi~m, (/eaftH'ss <l1l(1 renal dysplasia).
8' 'Ihe newborn baby has :t stOre of vitamin D, Sepsis
~c which reflects lhe \"it,lmin D status of the mother. Pre-
leTm bailie!> fcd unsupplcml't1tf'd hllmi1n milk mOly Basic science
o develop borderline vitamin D levels. Vitamin D
B"bil:~ ,HI.' particularly vulnerable to infeclion for
"
Z supplemenlation illiprovcs t..llLiulll dbloOrjHion anJ
Tclt'nlion, ,Ilthough lhere is no evidence thaI massive
many rea~ons, including-
• There is reduced skin integrity.
doses (:tbow 1000 III per day) or <ldministration of thc
• ·1111::r..: il> (requpnl damagf' to tht' respiratory
.1Cti\.'t' metabolite ,1re of ocnefit, 111ere is an algument for
epilhelium from oxygen or venlilation.
l>UPl'll.'l11l'tll;uion of <III pregn,ltll rnollwrs and newborn
• "'here is an immature responsc to oiganisllls in the
hahlt's in countries where sunlight is limited In the
gastrointestilldllracL
Umish Isles, sunlight exposure is often not adequate for
• TIlt: neonatal neulrophil pool in Ihe marrow is
vit.lI11in 0 manufacture. ,md in this situation dietary
ea~lly exhausted and the ncutTophils are poor at
wurCe<i bec'ome es.selllial. RickelS and vitamin D defi-
migrating and ingesting opsoni?fd pathogens.
ciency arc a p,ll1icular problem in immigrant families in
• T ;Illd Kcells are immature .:md :tre naIve with
the UK and nonhem Europe at the PTNeI\l time. Dit'tary
respect 10 foreign antigens and paLllogens,
sources of vitamin D in infancy h:l\'(> bE'en shown to
be m<lrginal. and poor diet combined with indoor An understanding of the way III which the body
li\'illll,. <ltmo~pheri( pollUliull and increased use of reacts to pathogens is imponant and there has been
loI1ll~l'Tt:t:1l Ius lxen rl'l>ponsible for the resurgence of an explosion of knowledgc in the la~t 20 years. l1u'
simple vitamin D deficiency rickets in recent years, inflammatory response indlldl~a 'cytokine cascade' Cells
376 "l1\C American Academy of Pt:di,llric~ has recelltly such a~ manophages, when ~Iimulaled, release tumour
 Amniotic ftuid _-IJterus

[
>r~
""",.
\

C"",,",[ 'yCMnM'' ' '.

----Chorodeodl.aI ~~--+4--F.'
rlo<>M
""''''''

- - -cer-vu:
>

Fig, 48.5 Potential sites of bacterial infection within the uterus,

(From· Goldenberg RL et al 2000 New England Journal of MedICine 342'1500-1507)

necrosis faaor and interleukin (1L)-1.lhese mol«ules

Problem-orientated topic:
trigger <I GlSGldc thai includes other interlcukins. platelet
ilC1l\'<lling fadar, pllYitaglandins and leukmrienes Ihere early neonatal collapse
is upregul.1tion ofthe adhesion molerules such as selectin
.md this helps Ieucocytcs to roll <llong the endothelium Harry;5 born Py emergency caesarean section
direcled hya c!WrTIotaClic gradielll, in order Ihat they for failed induction, at term, weighing 2.5 kg.
can reach the ;'Ire;'l of in";'I'iion. He is in good condition with a normal cord pH.
OcC<1SiOIMJly thcre is an over-zealous response, The membranes were ruptured for 11.5 hOUN>.
rcsulting in the '~YSlclllic innalllmillOl)' re-ponse ~yn­ Harry is noted to be grunting from the age
drome' (.'lII~S) 'I hi .. is re'ipon~ihle for lheclinical features of an hour; he is intubated because of rising
of septic shock: hypotcnsion, thrombosis, pulmonaJY oxygen requirements and given surfactant
oedema with incn.::a~cd V<lscular pe[lm.'abilily and and antibiotics. Two hours later Harry hal5 a
multiple org.1n f;'ll1l1re ~11l~ i~ the rea~oll why some
cardiac arreE>t.
b,lbics wilh NEe ..tnd e.lr1y-onset group 13 streptococcal
(CKS) di.'iciI'«' die wry mpidly in ~pi\(' of antibiotic
Ql What are the most likely causes of the cardiac
m
lherapy and full inten~ive care "tlppon.
There is increasing interest in the fetal inflammatOly
n''ipons(' syndrome 100; illfcnion is a common
!rigger for preu:rm delivery Chorioamnionitis occurs
arrest?
Q2_ How would you investigate this child?
Q3. Is any other managemenllndicated?
-
C)
when the maternal polymorphs galher under the
chorionic pl,ltl.:, .luracted there from the inlervillous
::t
space (Fig. 18.'}). Lverllually lhey liMy invade il
-I
and cross to the amnion and the amniotic fluid. Q1. What are the most likely causes of the
Chorionic vasculitis <1m..! funisitis are thought to be cardiac arrest?
fetal inflammatory responses, and are associated
with a 'cytokinaemia' baDies whose placenta shO\\"t~d See Kox 488.
fUlli ..itis have high h.",·ds ofinterlcukins in cord blood.,
for example Illere is a re1:uionship bel\\ct'n the felal Q2_ How would you investigate this
inflammatory response syndrome and later cerebral
child?
palsy. which ilt present for bolh chorio.mlllionitis and
funisitis btlt is we.1J.:er for Ihe fanner. See. Rox -18.". 377
 BOX 48.8 Differential diagnosis of shock early
in hfe
• Sepsis: particularly early-onset GBS disease
• Congenital heart disease, ductal-dependent,
with closure of the ductus: e.g. hypoplastic aortic
"'
.~
arch, coarctation of the aorta, hypoplastic left
heart syndrome (p. 360)
Ql • Arrhythmia: e.g. supraventricular tachycardia
"'
"ll
(SVT: usually babies cope well for many hours);
ventricular tachycardia (VT; very rare in babies,
iii suggests a myocarditis) (p. 360)
Inborn error of metabolism (Ch. 34)
E •
.!!1 • Blood loss: e.g. massive subgaleal haematoma.
o ruptured liver. splenic rupture, intracranial
.0 haemorrhage with raised ICP
tE • Tension pneumothorax (p. 349): especially in an
intubated and ventilated baby or a baby who
required resuscitation or needling of the chest
,.; • Cardiac tamponade: especially if there is a
8' central venous line in place
~ • Gut perioration: think of this in a small preterm
baby, particularly with NEC, but gastric and
E ileal perioration can occur due to ischaemic
~
.!:
hypoperfusion; milk curd bezoars are rare causes
of perforation but are reported
,.;
8'
e
~
Q3. Is any other management indicated?
Ql Babies \vith shock from any cause, particularly septic
Z disease
shock, have" high mortality and need full intensive
nne SlIpport and monilori ng with ilggressive treiltmelll
8''"
;IS soon ;IS the condition is recognized. Assessment
of acid-base and cardiovascular status is urgent, and
o ventilalOry support is required whilst all attempt
~ is made to €lucidate the cause and offer specific
c: treatment. Milk feeds should be slopped in case of
o inborn error of metaholism and because an ill baby
Ql
Z will not absorh feeds, which may calise vomiting and
aspiration.
Group B streptococcal (GBS)
infection
ells is a common vaginal commensal, which causes
seriolls early-onsel diseasE' in about I per 2000 births.
Hisk f"clars for early-onset GKS disease i nc1ude:
• Prematurity
• I-Ieavy vaginal carriage
• Prolonged rnembmne rupture (more than
18 hours)
• Maternal pyrexia
• Previolls afkncd baby (mother h<ls no antibodi(~s.
378 usually i1gainst type III CHS).
BOX 48.9 Investigations for neonatal shock and
their significance
• Electrocardiogram (ECG) monitoring, blood
gas, blood pressure, saturation monitoring: to
assess the need for inotropic support, volume
replacement and cardiac rhythm
• Chest and abdominal X-ray: to exclude
pneumothorax and to check the heart size
and position; look for free air in the peritoneal
cavity
• Blood culture, urine culture and surface swabs:
to attempt to identify the organism in sepsis, not
a rapid test
• Full blood count: a low white cell count or a
very high one suggests infection. Babies do not
mount a specific neutrophil response to bacterial
sepsis. The platelet count often lalls in sepsis
orNEC
• C-reactive protein (CRP): the normal value varies
between laboratories but is usually less than
1 mg/dl. Serial measurements are more valuable
than a single estimate, and the CRP may take
48 hours to rise in response to sepsis. A normal
value in the acute situation does not exclude
sepsis
• IL-6: not yet available clinically, but more likely
than CRP to be elevated early in the presence of
infection
• Urea and electrolytes. lactate, ammonia: clues to
inborn errors of metabolism
• Echocardiography: to detect congenital heart
• Cranial ultrasound scan: to detect intracranial
bleeding but not a good technique for detection
of subdural collections and will not diagnose
subgaleal bleeding either. For this, careful clinical
examination and serial head circumference
measurements are helpful
Management
Intrapartum antibiotic prophylilxis is a proven
effective treatment thaI can interrupt the vertical
transmission of CBS infection from mother to baby.
Intravenous penicillin 3 g should be given ;IS soon as
possible afler the onsel of labour and 1.5 g 4-hourly
ullliJ delivery ill women whose babies are at high risk
of acquiring early-onset CBS disease Women who are
allergic to penicillin should receivc cJindaJllycin 900
mg inlrJvt'nously 8-hourly. The cu rrelll UK gu ide! ines
for intrapartum antibiotic prophylaxis adopt a risk
factor·based approach; scrcening for CBS carriage
at 35 wccks has been adopted in some rountries
hUl is not endorsed by the UK n;uional screening
committee
@ http://www.gbss.org.uk
Group B Streptococcus support group. an excellent
source oltnfomlat,on, including leaflets lor parents
....
(~'" http://www.nsc.nhs.uk
UK natIOnal screemng committee
...,
(~'" hltp:llwww.rcog,org,uk
The Royal College of Obstetricians comprehensive
guideline on GBS. which is enclOl'Sed by the Royal
College of Paediatncs and Ch,ld Health and the Royal
College of Mid\Ylves in the UK
,\·10st babies with early-onset. ells disease present
soon aftcl' binh and virtually all pTl,::.cnl within 12 hours.
Sign~ inrludt, r.tist:d respiratory rail', gmnling, ;'lpnoea,
poor feeding and mottling, and the disease can progress
very rapidly 10 shock and death, 'n1C lllort"lily b still
around 101l;'ll
Septicaemia
Apan from <..;HS, bablE'S can acquire a bacleraemia from
an) one of hundreds of potential pathOJ\ens. Sepsis in
the llt'OlMle il> w,u,llly C31t'gori:r..ed d~ 'early-on!>el' and
'Iale-onset'
Early-onset.
• I're5ellll> by about 48 hours of age
• Is c<lused by organisms acquired from the binh
onal or occasionally transplacentally, e.~. CBS,
E, wll, I.i:.U'I·j(1 1I101'lOL"'Ylog.me~
Latc-Ollloel:
• Prest'11Is afTer 48 hours of age
• Is usuaJly caused by organisms acquired from
the cnVirUllillClll or Ilosocorni<tlly, e.g.
OO:lgll]"w-npgaT;ve ~taphyl()co('('i (CC lNS),
S/(lpltl'!OLOCCII5 llllrPIIS, E, coli, Kle/)siellil,
E,l/efl)Uade" SelTiJlja, Cill/}bil~ler, Aurl/!'lllbtider,
1'sl'udulIlmws, emu/ida spp and oth~r fungi, or
viruses.
l:xc~ptions to this paltern of Jcquisilion and pre-
scnt.Hion include:
• l.dlc-onset CBS
• Ilerpes simplex infection
• Cllllllllp/ia infection
• Congt:nil,,1 candidal and other fungal infenions.
Infections Gtuscd by Ihcscorganisllls may be tlcquired
at birth bUl present late.r. Anaerobic baoeria may also
bE- a causc of sepsis, usually in association with bowel
patilOlOJO'.
It is import<1l1t to remember vir..1 infections
including herp.:lo virulo. Ilot It:ast because aciclovir can bE-
a Iife.-sa\oing lfe:ltmelll. 'think of congenital candidiasis
in prelerm babies whose mothers have a history of
chronic vagill,lllhrush and who had cervic-al cerclage.
or who became pr~gnant \\ith an illlr.luterine de\'ice
filted
Babil'S with septicaemia usually jHe"t'nt wiTh nDn-
sp£cific loigns such .l~ poor f«ding. moulin~, lethargy,
floppiness apnoea and temperature inslabili", 11lcrc
Illay be lachypnoca and lachycardia. QUlle often Ihero;>
is an ilem, \vi,h feed intolerance. dil,:ned loops and
abdominal distension, and these sil-;J1lo call !w preSt.'11I
L"Ven when the diagnosis is not f\1"C.
'Ire,1l1llt:111 of sepTicaemia depends on accuraTe
identification of the organism and ,lpproplLIlC usc of
antibiotics,
Meningitis
Jhink of meningitis in b<1bies with silo\ns of 'Oeplois
who arc irritdble, A full fontand!e ,lIId :.~iz\lfes are
lale loigns, and lIIt:ningilis should be diagnosed with
II' before Ihis siage is reached. LP is .In essenlial tool
in the diagnosis of meningitis, bUI il is knuwn th,lI in
about 15% of {'a~ th~ blood nlhure does nOI yield
the organism.
TIle nornul \\ohite cell COUIll in noonaTal C,..,I is
higher than al uTher Times of life, and in geller,}1 COUIllS
of up to 30 per mm 1 are considered to be within the
normal range. Diffelelllial while cell (Ollnts in C"il do
not help to dilolillguish bacterial from vir:t.l meningitis
in Ihe newborn. If there is a high white cell count and
no organisms are seen 011 Cram st<lin in CSI' frulll :l
baby who h"" not received antibiotic trC:lTmelll, think
of vir:!1 meningiTis and start aciclovir whilst awaiting
peR for herpes virus.
MCllillgilil> tMrit:l> ,I signifi.-alll risk of hr.1in dam;\p,e
m
-
;\ncl treatment mliSI be carefully monitored, Brain
inl.lging is ilnportilnt in order 10 del!..'Ct \'cllIriculomegaly
and abscl,'SS (furtu!l,ltdy rMc), and I'LL (;11\ help in
prognostication
C)
J:
-I
Eye infection
Stid)' eyes arc (OIllIllOn in babies hm <;enous ('\1:'
infroions are rare The management depends on the
organism, and an attempt should be Illddc to idenlify
Olwmr,Jill b('(dll~ thilo may be 'maskl'tl' hy lrealment
with topical chlnramphenicol and requires systemic
treatment with erythromycin (plus tetracycline eye
drops) in order to treal any associalt:,<l pnt'lllllonia.
Siaphylu(,()(,cill infeoions are Ihe most common. 379
 Mild infections can be tre"led by cleaning with sterile
sa.linc. but if cultures are posilive and discharge persists,
topical anlibiotia. should be used. ChloT<'.mphenicol or
neomycin eye drops<lresuit.1ble Conococcalophth<llmi<l
remains rarc bUl bcc.lU~ lhe corneal damage can occur
very quickly, it is imporlantlo consider this as il diagnosis.
parliculMly when there is " profll"~ !)urulent discharge
wry early in lif€. 111E' current recomm('nded treatment
is with intravenous ceflriaxone; the baby and mother
must be isOltited.

~
o
o
1;;
to
o
Ql
Z

380
 Breda Hayes Thomas G, Matthews

Accidents, poisoning 50
and apparent life-
threatening events
Learning outcomes 395
Accidents 395
Poisoning 397
Sudden unexplained death in infancy (SUDI; sudden infant death
syndrome, SlDS) 398
Apparent life~threateningepisodes (ALTEs) 399

.. •
By the end of this chapter you should:
• Understand the contribution that accidents make to childhood death and disability
• Know which children with head injuries should be referred to hospital and what the
indications are for brain imaging
• Understand the management of the common causes of poisoning in children
• Know and understand the risk factors of SUDI and how to minimize risk
• Know and understand the mechanisms by which a child may present with apparent
life-threatening episodes (ALTEs)
• Know the appropriate advice to give to parents whose baby has had an ALTE.

lllake up 2')% of lO'nwrgrnry department visits for

Accidents (seealsoCh 17)
Injury is the principal Cdw,e ofchild death in all dt:\~loped
countri~, accounting for allnnsl 40% of df'ath" in the
:l.&'f' group I-IS ye.llS (Iable SO.1). In the dC\'Ciopcd
world, ro.,d traffic accidents account for approximately
41 % of all injllly-relatoo de,nhs Taken togelher, traffic
:lccidl'nls, intenlional injuries, drowninF;s, falls. fires,
poisoninF;S and other 'lcddents kill morc than 10000
childrl.'11 c\,-cry yltar III <kveloped countries. In dewlop-
illg countries, an estim,tled I million children under
15 die each year from injuries.
l'or each death th~rt: is <i very much l.1rgi"r number
of T1on-f.1lill iniuries, tl":lU mas and resulting dis.1bi Iities.
Annually about 10% of children suffer an ,lCciJent
necessitating contact with th~ health ~rvice<; A,cidenls
m
children .1ged 0-5 years.
In general. .1cciclent CoIUs<111011 varil;':S from cmlllll)'
to country ilnd L""l-Cn within cuumries from region 10
regiC1n, as accidents depend on living conditions ,llIJ the
-
C)
surrounding em;ronment, both indoors ami outdoors
Ilow€\"Cr, in all countries Ihe va"t mal0"'Y of all
::t
children's accidents im-olvp falls. with a snMller llumber ~
r..l,lIing to motor vehicie ,1CciJellls, fires, t]rownings,
forcil{n body ingestion ;lIld IXli-.oning. A child's risk for
spt.:cifir cau~e<; of in]lIl)' i~ linked 10 d€\"Cloplllental a!'le,
with studies showing differences in rale~ by i-l11omhly
intervals for children aged 0- J YCM~. Boys art' 70% more
likely to <lie by injury than girl"
Although it is tme that child Injulyde,ltll r<ite,\ 1I,lYe
been f.lliing for more tlMlI twu dccad~s, thert' IS fllrther
395
 Table 50.1 Causes of death in chitdren and young people
Top three causes of death 0-1 year
Devoloprnootal and geoet;c
problems pmsent at birth
50
2 Sudden unexplained death
in infancy (SUDI: slKk1efi
infant death syndrome, SIDS)
3 Prcm<lturilyllow birlh weigllt
room fOl' improvement. Sweden h,lS had intensive
child Ilroteniol1 progrill11meS running for over "IS
ye:HS J.nd hilS the lowest child injury death rale of any
country,
The bmden of<lccidental injury is disproportionately
heJ.vy on the most disadvilntaged, Children from the
poorest families arc more likely to die from accidents,
1O he admitted to hospital and to be aJmiued with
more severe injuries. 'Ihe likelihood of a child being
injured or killed is associated with sin~1c parenthood,
low matern,11 education, low malcrnal <lge at birth,
poor housing, brge f<llllily ~i~e, <lnd parent<ll drug or
alcohol abuse.
Accident prevention programmes need to be multi-
faceu'd and to include poverty reduction programmes.
Accident prevention is discussed in detail in Chapter 17,
Head injury
Millor closed he<ld injury is one of tbe Illost frequent
reasons for visil~ to a hospital. Oilly I in 800 results
in any serious complications, The l'JationallnstilUte of
Clinical Excellence (NICE) has described algorithms
for referral to hospital and investigation of hcad
injuries. The most recent recommendations for referral
to huspital for further Jssc~sll1ent include any of the
following:
• Glasgow Coma Scale (GCS) < 15 (p" 308) at any
time since the injUly
• Any loss of consdOllsn{'ss as a [('Sllit of the
injury
• Any focal neurological deficit since the injury
• Amncsia for events hefore or after the injury in
children> 5 years
• Persistent headache since accident
• Any vomiting since injury
• Any seizure since injury
• Any previous neurosurgical imervemions
• High-ellergy hcad illjuries (e.g. beillgstTLlck by a
car, fall from a height)
• Suspicion of non-accidental injury (Ch. 37)
• Fi nding of irritability or <lltereJ behaviour since the
accident
• Any suspicion of skull fracture or penetrat ing head
396 IllJury:
1-4 years 4-15 years 15-24 years
Accidents Accidents Acdd9nts
Developmental and genetic c,~ Ilomicide
problems preSC1lt at birth
Corx:er Homicide SUICide
Cerebrospinal fluid (CSFl from nose or eM
- Black eye with no il~social('d 1T:lulTla arollnd
eyes
llmising behind one or both cars
Visible lrilumil to sralp or skull.
If the child is sent home, a reliable caregiver should
be in charge at home Jnd be givcn <111 instruction ~hect
for observation and for when 10 return the child to
hospital.
Investigations
Skull radiography has no role in the evaluation and
management of head injllly. If llcuroimaging is COll-
~idered necessary, then computed tomography (CI') or
magnetic reson:mce UvlR) brain imaging is required.
NICE recommends lhaturgent cr brain imaging should
be lJl1dert:lken if ,my of the following featllres is present:
• CG<; < 13 at any time since the injury
• CCS 13 or 14 <It 2 hours after the injury
• FOCillneurologiral deficit
• Suspected open or depressed skull fracture
• Any signs of basal skull fracture
• Post-lraumati. seizure
• > I vornitingepisode
...,
(~, http://www.nice.org,uk
The CCS and Ihe AVPlI scales are described on
page 308.
Ik,ld trauma Illay be d1l(> 10 dlild abuse or serious
neglect by a parent or caregiver. In all Clses a thorough
history should be obtained of past injuries and of
circumstances surrounding the present injury,
Road traffic accidents
While uncommon, motor vehicle accidel1ts account
for 400/(1 of all fatal accidents in children, [11 lhe
J1l<ljority, the child i~ <I pede.,trian hit by oncoming
traffic. In the remainder, lhe child is a p:lssenger who
is usually unrestrained or improperly restrained, Motor
vehicle accidenL\ arc IllOTe romlllon in underprivileged
overcrowded areas wilh a lack of pl:lyground spJ.ce.
Adequate adult supervision is essential if childl"en are
outdoors, especially if there is a.re~s to passing tr:lm..
Child s.1f~t}' in (ars n~ed~ to he a(tclrf'~wd All cars
should be fitted with correct backseat child restraints,
G\H:fuliv ~k'CtLxl according to the child~ weight. height
and length <;jt'at hdlS art' de.iglled for peoplt' 5 fool 1311
and over Recommendations state that seat belts alone
are in.ldl.."quatc until approximately II years of age.
Drowning
Drm''Oing IS r,mked third o,-erall as a GlI1W of accidental
de.uh .lmollg children up to the age of 5 Incidence is
dm.dv rda((.xlto climate,. time of ymr and gl..'Ogl<lphiQI
7.one Tnddl{"rs account for Ihe majority, with a '>ffond
small~r peak incidence in adol~nc~. At all ages males
arc marl: ,II ri:.k. Infantile drownin!', mainly ocrurs in the
halh Ollldoor pools <Ire the major site:. of <lccidel1tal
drowning in toddlers. Children with epilepsy are up to
four tiJlll::' <1~ likely to suffer a drowl1in/o( incident.
Imnwdi,1le and effective Glrdioplllll1onary resllscit<l·
tion (CPR) is the I.1rgest determinant of OUlcome. [am
minutIC lIMt pa:'>,~I.."S prior to implcl1lClll<ition of CPR
drafll,ltic,Illy reduct'S suryiyal anti long-term Oll1COme. Of
near drowning victims with cardiac arrest ,..-ho received
preho:.pit'll CPR. only 7-21% ,~ill be neurologically
int,let \t'lIldgemt'nt is sUPporli\"t~, with attention to
lung aspiration and hypothenni3. ~uper\'ision of
childrcn ,\found water is essE'lIti,lI. Installation of pool
fencing ha.' been shown to Ix: effeeliw in pren'nting
more th,m "00-·0 of s\'Iimming pool drowning~ among
young childrl.'n.
Swallowed foreign body
l're~chool children commonly ~wallO\.... coin". toys
and ston~s. '1 he majority pass wilholll complications.
However. oesophageal hold-up requires urgent
endoscopy. Sharp and long objects tlr.. th(' mosl likely
to cause perfor:ltion. Abdomin:ll pJin :lnd tenderness
Jnd failure 01 .ul obiect to progress radioJogicJJJy in 24
hour~ Me ""ch independent indications for evaluation/
endoscopy/surgical evaluation.
Poisoning
Morc th.m 50% of all poisoningi occur in dlildren
5 rears or }'OlInb>cr. Almost all ar(' unintentional!
accidental, with illlentional poIsoning b«omlllg more
comllJon in the female adolescent More than 85% of
toxic rll:flCKlIrt-'S in chiloren ocmr in Ihe child's home.
USUJlly during Ihe day and more commonly during
school or public holidays. 1\t0!>1 invol\'C only a single
~uh~lanct". Aoollt 60% im"Olve non-Illt..d icinal dmg
prodUClS, m~t commonly cosmetics, deamngsubstancrs
and h)'orocarbons. Phamlaccuticli products comprise the
remainder, wllh analgesics, cough productS, antibiotics
and "itamins being the most common Mor~ thall
75% of paedidtric puisoning e>.po"ur..:s tan hl' tre:lltX1
without dire" medical illlervelllion hee:ll1w eilher Ihe
product il1\'oh'Cd is not inherently IOxic or the quantity
im'olycd is not sufficielll to producc significant toxic
effect~ Death from :tCUIt' poi..oning in children less
than 10 years has declined dramatically in Ihe last
dCGldc. TI1C t\\"o 1110"t important fanors haw Mn
child·resislalll containers and liS(' of s:tf~r medicines.
Management
Detailed hi~tnry, if possible doculTIel1tinf; magnitude
of exposure, timing of exposure, progression of syllll}-
tOIllS <lnd IllcdiGlI history, i~ vltal III tkH.·rrnine risk
C,()ll:.ult.1tion with :l poison control centre mar JSSiSl
in identifying "ctive components within ,1 plOJUct <llld
likdy :.ick-dfICcts. [ffurthcr !llilnilgeI1H'nl i~ required, it is
generally divided inlo two pans:
• Gl'/l('r<lIIlIll/llI,~em(,JJI, Supportive C.He is ~i\'l:n, with
managclIlclit of airway, brealhing ilnd cireul,llion
and avoid,lnee ofhypoglycaemia.
• SM,-inc J/l1lI1Q,IWIf,,'fJ(. lhe Americ.ll1 Ac.1dcmr
ofToxicolOfo;Y and the European As'>OCiation of
Poi'iOlls (enud and Clinical Ibxlcologi~l.~ have
r("lcased statements that the routine:- adminisuation
of ipl..'Ctlc Syrup or other Qthartics is not endorsed
'1either do lhey suppOrt gastric lavagf' or ,,'hole·
body I.wage, except in extr~mf' circumstances
Administration of aetivaled dlilrCtldl should be
considered as !>uon as possible after emergency depart-
ment presentation, unless the agent ,wd qu,l1ltity are
known to Ill: non-toxic. the agenl i~ known Ilut to
adsorb to aetiv;\ted charcoal, or the dl.'lay has bccn so
long thJt absorption is probably complete.
Antidotc!> "rIC available for only ,I lim;tl'd J1lHnber
of poisons, I:nhancing excretion is useful for only a
few toxins. I'ew druf',S or toxins arc removed by Ji,llysi!>
in !>uffickllt amounts to justify lhl: difftclJltic~ and
rbl..:. of dialysis in children, mood level~ are import,lnt
in the management of poisoning with p,uJcetamol,
-
m
C)
salicylalcs am'! ilOlI. For other intoxiGHlt:. qtMIHifying
1C\"Cls rna)' hC'lp in confirming the dmgno:.is but will
J:
not alter Ire,lImeOl -I
Paracetamol
Paracetall10l is the most widdy USl..'d dlildhood analgcsic-
and antiPJo'Jl·tic. Unintentional paraeelamol mudose in
children i.lrely GlllSCS illness or dealh This may be duc
in part to the immature cytochrome 1'450 (O'Pl CIl.lYlIle
S)~telll in childrcn.Fa!>ting is it risk factor, l)(Nihl}' because
ofdepletion ofbepaticglUlJthione reserves. Concomil.1111
usc of other drugs that induce a'p cn.lyll1(o::" such as 397
 anticpileptics (including c,ubamazepine, phenytoin,
barhiturates dC.), has abu b<:<:11 reported as d risk factor.
The aelile toxic dose in children is considered to be
200 mglkg.
Anurexid, IMused, vomiting and diaphoresis arc com·
man in the fir~t 24 hours. If a lOxic dose was <lbsorbed,
oven hepatic failure develops o\'er 24-48 hours, peaking
at Mound 72-96 hours. In massive overdoses, coma and
metabolic acidosis may occur prior to hepatic failure,
Damage generally occurs in hepatocytes, as they
metaboli"e the paracetallloi. Ilowever, acute renal
failure may also occur. This is IISUJlly CJused by either
hepatorenal syndrome or multisystem organ failure,
Acute rerhll failure may also be the primaty clinical
manife:'lation of lOxicity. Tn the~e C<lses, it is pos.<;ib1e that
the toxic metabolite is produced more in the kidneys
than in the liver. A blood level 4 hours post ingestion is
rak{'n and plotted 011 a nomogram to deterrnint:' whether
antidoul treatment is indicated. Liver function tests and
prothrombin time should be followed daily in those
with pOlcnti<llly toxic Ievds. After large acute overdose
activated charcoal should be considered. In cases of
definite toxicity N-acetylcysteine should be started as
.~oon a<; possible and has benefit up to 24-36 hours
after ingestion.
Tricyclic antidepressants (TeAs)
TeAs are <Ill extremely toxic source of poisoning in
young children. The lowest toxic dose in the literature
is 6.7 mgjkg. Overdoses of TCAs can cause coma,
seizures, hypotension, cardi<tc arrhythmias Jnd cardiac
arrest. Central nelVOUS system (eNS) symptoms occur
ill children more frequently than do cardiovascular
elTecr~. Treatment is direCled at r<tpid asse~srnent.
mon ilOri ng and support of vilal funrtions, halting drug
Jbsorption, "nd treating CNS and cardiac toxic effecrs,
1\11 children should be mOllitort::d for <I minimum of 6
hours and many require admission to a critical care unit.
The mainstay of therapy is alkalinization. Intuvcnous
administration of sodilllll bi<:arhonilte is the prt:'ft:'rred
treatment for hypotension, shock and arrhythmias.
Ilypotension is a poor prognostic sign. Blood I'll
should he monitored and should he maint.ained
between 7.45 and 7.55. More specific dmg therapy,
cardioversion or artificial pacing m,ly be required for
refractory arrhythJllia~. Befur<: the child is dj~charged
from the hospit<ll, stf<uegies to reduce the risk of future
poisonings should be discussed with the child's family.
Smoke inhalation
Referral for assessent after smoke inhalation is common
after home fire~. Physic,,[ examinJtion, looking for
signs such as singed hai r, facial hu filS and CJ rbonareous
sputum, aids in determination of extent of exposure. if
398 there is hOJrsencss, stridor, increasing rL'Spiratory distress
or difficulty handling secretions, the ilirw:ty should be
directly visuali"ed by bronchoscopy or laryngo~copy.
Signs of impeding airway ohstruction due 1O mucosal
oedl':ma are an indication for eleclive intubation. Signs
of carbon monoxide poisoning include headache,
confllsion, irritJbility and visual ch<tt1ges. J\l1<tn<tgerneJlt
includes blood rarboxyhaernoglobin level (1IbCO),
haemoglobin level, arterial pll and urinalysis for myo·
globin. Treatment inrludes close observation ;mel
oxygen until the IlbCO level falls below 5%. Ilyperbaric
oxygen should be considered if there i~ a history of
roma or seizures, or persisrent metabolic acidosis ill the
case of a pregnant woman or neonate or for an IlbCO
level gre<tter than 25%,
http://omni.ac.uklbrowse/mesh/
D011042.html
European Association of POison Centres
Sudden unexplained death in
infancy (SUOI; sudden infant
death syndrome, SIOS)
It is proposed to discuss ,\IJ [s after an introduction
on SUDI, despite there being no proven link between
the two conditioJlS, primarily b<:cause both :ue
unexpected unpredictable events predomin<tntly
<tffecting well/healthy infants in the first 6 momhs of
life, Both remain largely unexplained and ALTEs caus,:
considerahle parent<tl <tt1Xiely <tnd distress because of
the frightening nature of the episode and the worry of
a future SUDI occurring.
SUOI is the term used for the sudden unexpected
death of a well inf<tnt occurring during the first year of
life (80 0/c during the overnight sleep), which remains
unexpl<tined <tfter a thorough CJse investigation,
including a complete autopsy, ex;,miniltion of the
death scene ,md review of the clinical hislOl)'. III
developed rOlllltr;es Sf rOt is the most cornmon cause
of de:lth after the neonat<ll period in children less
than 1 year, with the peak incidence between 2 dlld
4 months of age. SUD! is all unexplained death Jfter
inwstigation and is a diagnosis of exclusion. It is
possible that. ill aboUl 50% of cases, incomplete casel
postmortem investigations hav<: been performed <tnd a
cause of the child's dealh has been missed.
Epidemiological studies have idelllified the pl'One
sleeping position and maternal smoking dllfillg preg-
nJIlCY <ts increasing the risk of SUDI, and 'reduce the
risk of SUDI' campaigns in most developed countries
have led to d drarnJtic decrease in th<: usc of the prOlle
sleeping position and an <tssociated reduction in SliDI
incidence over the last two decades from 2 to 0.6 pcr
1000 IiV(' births in Ireland. 11lis f,lll in SlIDl rates has
resulted in the numocr of SUDI dealh~ falling from
aDmit 1')(110 4') per year in Ireland, with no diagnostic
tr,lnsfer, and the overall infant mortality rate falling
by the same amount. :--'1alemal smoking "ncs have
declined only slightly owr the pa~t feo.'" }'E'.lI'S, lE'aving
smoking in pregnancy as Ihe maior current SUDl risk
f,letor in \,'cstern countries, with a clear dow-rc,>pollSt':
effcct t:\<idfnl (this includes the number of cigarettes
smoked by the mother and the number of smokers in
the illfanf~ environment).
SineI:' tht' recent dramatic reduC110n in SUUI rates
other epidemiological factors increasing the risk of
SUDI have bcen sought. Risk factors include:
• Social deprivation.
• Infant parelll cosleeping. Sh.uing an adult bed for
the entire night is a well-rLX"ognized ri~k faclor and
~hMil1g a sof" i~ cspeci<llly dangerous
• ,vI;'tlernalsmoking (risk of coslecping being
especially pronounced in infants of ~ll1oking
lTlotlu:rs)
• lnf.,nt soother use has recently been shown to have
some protcctive effect if USI.-d every night.
Dt:'lipile IllLlCh research the underlying a(>tiology
of ~lIDI remains unknown. It is kno.... n that SUDI
inf,lIIts arc til;hter, with a smaller head (br<lin) size,
th<ln gf:'<;l<ltional age.malChed controls al binh.
SUDI infJllIs also have demonstrJbJc histological
differences, probablr an in utero growth rcstriction
rffen, in many differ~nt organs from lungs diaphragm
dnd kidneys to decrea5('d brain myelination and
increased brainstcm gliosis, especially ill ,Ircas crucial
to <luttllllllnic/homcostatic control C;onsequently
it <;eem~ likely that SUOI infants arc vulnerable in
situations where tht: br<iin's controlling/protectivc
sptt'll1!l (l'Hltol1omic splem) are hea\'i1y down-
regul;'tted (as in quiet/deep sleep, which is more
prevalelll ill the pronc sleepi 118 posie iOI1 or ,1 (ler !lice])
di.'>turb.II\("~/(teprivation), oflen with an added stre%
from mild intercurrent iII ness or environmental stress
such JS o\'erhe.lting.
In thc r,lrc ca~cs of recurrence of SIII)I in a family
(6/1000 famlties with a previous SUDI), other genetic
disorders (e.g. central hypoVClllil,lIion s)'ndrome,
mct.lbolic di'lOrdt,l"'l), a~ well as infanticide, should be
excluded
Apparent life-threatening
episodes (ALTEs) (sec ,Iso p 317)
In 1')Hb a ""-ational Institutes of Ileallh (LI~A) con-
sensus conferenre on infantilE' apnoea and home
monitorinp, defined an ALTE aSi
jUl epb{)jJo! IlwI is fngllllmmg w rllf' ollSl'1wr "'lfJ /1111/ iJ
c/Jl/r,lClt'riz.:d by SO/llf' wmbi11111ioll ollllln<-"'f'" (tl'lllr<ill.r
OCC(/SlOrlclJlr OJ>SlnJClWI'), colo"r d"lll.l~r (IUllll/1y ".moli, <'f
/'Jil/i,l bUI v..(<ISio,,,,Uy erylh<'ltltlWIlS or "Jell/oric), "",rh.>,1
eh/mgt' ill lUusdr IO//{' (llsu.illy lJ/(/rke,llll1lpl/ffi), ,IUI/{lllg Ilr
g(I>~~lIIg
Essentially, such a brodd dt'finillon can include
an)' lInexpecled frightening (>pisod(> in an infant. Most
[ypically, ALI I.: episodes occur in the first fl'W llIolllhs
of life and ,ne mostly reponed dunng IhE' day, as
caregiver:. are present and the (>\12:nts ilrc witnessed.
Infants are usually well or only sliJo;iuly lIll\\dl bdore
and after Ihe (.'\'eill.
Some h<lhies are described as being groAAY, Iloppy
or quiet and not themselves for a kw hours "fter the
episode, nle level of resuscitatiun reqLllred dictates the
level of w(my regarding [he possibility of Sli DI OCCUn;lllo\
in .1 fU!llre episode, and althoufo;h tho.: lit(,l',llur(' ill Ihi.'>
regard is connicting and col1fu~illg. therl' seems to be
only <l slight, if ,IllY, inrreased risk offutllTe SliDI in these
infants '1 hE' source of this confusion is cle,trly showll
in the data from the Irish 'l,lliotMI SliDI 1~l'gi<;tl'r on
the relationship between a prior Alll.f,'pnocaflifcless
epl!looe and ~U[)I ·Ihe data show tlldt .lpnol..'ajlifdco;s
episodes were significantJy more frcqllt'lII among SIIDI
case; thiln among controls (12/114 (16%.) ~lIDI cases
V<; 6/1419 (0.40.0) controls OR 2.81; CI. 1.65-4.76) on
unimriate analysis. However, on l1luhi\'<triate analySIS
the odds ralio of 2.56 for subsequ(>n1 ~LJDI \"'as not
signiflGlnt whE'n adjtlSted for materna] age education,
smoking, alcobol consumption, urinal)' inf('(1ion during
pn.191anl)', :.ocial del)riv3tion, tog value of bedding..
problems in the last 48 hOUTS, absence of usual soothL'T
use, (osleeping and being placed pron{' in tlw last sleep.
TIle validity of continuing 10 add in the number of
variables included in a multivariate an,ll}'~b until the
variable AL:I·E bl.'cOl1lCS not sigllific,lnt is higilly debal<lble.
Comel/uclltly, differenl authors h.we flublished lhal
thcre is either a slighlly increased (doubJillHl or 110
-
m
inrrea~ed risk of SUDI in inf,lllls who h,lw sliffert'd a
prcviou:. ALTE, depending on what has heen included
in the lIluhivariate model.
An AI 11 is a common reason for ddmis.-.ioll ofinr.'l1t<;
C)
to hospitdl ,lIld IX).'>('<; a problem for p.,t'(li,ltriClans as to
what conSlitutes an adequate diagnostic workup and also
:::I:
as 10 how thesE' inf.tnts and their worri\..'t.IIMrCllI!l !lhould -I
be manotgL'tJ. A careful hislory of lht' t'\elll, indlldmg a
detailed d(><;('rilJliol1 of the precipllating circumsLlllccs
the inf.lIlt's appearanoc, the amount 01 Icsuscit,llion
emplO)'Cd ~, the carq~i\'cr and its dural ion, Wilt usually
providt· tht" IJOinters as [0 what may be appropriate
investigatIons. Awake-onset episodes, whetJler .t:.."OCia\(.'(1
\\ith an obvious precipiLlting ~"\'t.'1ll ~uch as crying.
\'omiting or gagging.. fit most neatl)' into the spectrum
of cyanotic/pallid breath-holding or reflex dnoxk !>Cizure 399
 l}'pe of {'V('nt~ (c'h. 24), ll~U,ll1y <lltriblltt.'(1 to immilture
aUlollornic/brain<;tem control. 'these are moslly benign,
sometimes with a positive family histOly, and arcdifficult
tu lrc.at cfTL"Ctivd}'. TIIC 1)l~CIKe of <lnoxic seuures should
be obviou<: from the sequence of ewrus in ,he hislOIy, as
reflex-induced seizures in inf;mts are extremely rare.
~Q) SleCIl-rd,IlL-d CllbooL':.logicdUy fit 1Il0StllL'ally within
the realm of SlIDI with down.regulated protective
>
Q)
reflexes (arousal responses to hypoxia or nasal ocdusion
(J) are lIIuch slower during skep and worse again during
c: deell slei'p) allowing otherwise nonnal infants 10 drift
c: into slightly danRerous situations. The frequency of
~ poor phy..iulogical responses to noxious situations in
infa11l<; can Ilt' giluged from a "ll1dy of healthy 6-wttk
~ old infants, conducted many years ago, where 40% Wcfc
~
';' unable tu l':.w.bli::.h .In ordl dif"o-'ay within 25 scronth of
~ the onset of na'i.:\l ocdU'lion dllringslei'jl Giwn the poor/
immature background physiology. it is not surprising
C
Q)
that some infants allow themselves to drift into slightly
danb't'rou<;/frighlt"ning ..illl,ltions and pff"lCllt a~ an Alll'
iii0.
0.
m Causes
"C
c:
m In children with Alll~ the faClOl~ dt.'SCrilx.-d below arc
(J) oftO;'n con~iderl?d .1<;.1 pO~siblf' cause
c:
c:
o Gastro-oesophageal reflux (GOR)
<Jl
·0 (sec also p. 178)
0. A r..n·n! syswmatk ro:vi("w of the cau~es of AITLs
<Jl
in the published liter,ltL1re reveale<l a remarkable
C heterogeneity in the quality of tile published
Q) lilerahH'O;' and diill4!1o~tic labds al1aclled to ALrE
"C case~ (\1cCovern &I ~tnHh 2004). The fact thm, of
·u an initial 2912 papers. only 8 studies involving 643
~ infants could Ill' included ill the systematic review
speaks volume<; as to 1hE' poor qu,11ity of this literature.
Even among the 8 papers used in the review, the
Jdiniliun of ALTE varied between the slUdies. as did
study lTlO;'thodology, making it difficul1 10 draw firm
conclusions. Notwithstanding these limitations, this
literaturc revitw found the most common 'diagnoses'
reponed as 'c,iusing' All}" were COI{ in 227, followed
by a seizure (n 83). lower respiratOry tract infection (n-
58) dlld unknown (n-t6?). However, it is particularly
important ill thi<; situaliol1 to distinguish between the
chance tempor,ll associ,ltion of twO eYf'llts (an ALT£
and dnuther cxtrcmdy COIllJllon event in infanL~, such
as GOR) :md a c.lllsal rt:1ation~hill.
\Iosl inf,lnlS exhibit iOlermiuent GOR in the first
few 1ll0ntlls of life, Jue \0 immaturity of the gastro-
oesophageal ."llhinCll"r (p. 178). ltecl?nI studies have
found no evidence for acid reflux euher causing or
cxacerbatingepisodesofapnoca or oxygen dcsaturatiolls
400 or 1\111: or Sll 01. nllt there ;~ an increased incidence of
rt':lpiratoly prohl~I11", In :l.(ldi,ion, lreating COR has not
been shown 10 prevent recurrences of ALlT.s or apnoea.
Also givell that most infdllt~ ol..cdsionally reflux <lcid
stomarh contt'nl~, an inf,llll who has a massi\'€ o\'cr·
reaction to a common t'Vem implies poor central
control.
C'.onseqllcl1l1y tl1l"r~' i.. linlt· ~uPlxm in the liter.uure
for COR as the cause of either ALTLs or SUDI, making
it difficult to justify the usc of diagnostic tests (nolle of
\'vhich i.s either M'n..itiw or 'll)ffific) aimed .11 ~t.1blishing
the presence ofCUR Also, theuseofthe varied trcdtmcnts
employed in trcJling this non-condition, whidl h,
mostly a variation of nonnal immature physiological
developmem, is diffiruh to jusufy. Ilowt"\'tt. clinically we
do occasion,111)' sec infilnts \\itll SC\uc and/or fl'CUl'Tent
ALTE.s with thc l1I~t M"Vt'rc GOR, hoth probably indicat·
ing poor central controlling me.:hanisms. where using a
thickened feed may be juslificd.
Seizures
Seizures are the second most frequclItly diagnoSt.-d
'cause' of Allis in thc puhlisht.-d literaturl?, yet it is
rare that an 1\1'11. is prO\'Cn to be caused oya massi\'('
synchronous cerebral electrical discha~. i.e. epilelY.>),.
111(" vast majorily of AITIs attributcd to a seizure arl?
eithl?r cyanotic breath-holding or pallid syncopal
episodes llrcath-holding attacks arc familiar to most
doctors as non-epileptic t.>pbodc. uccurring in somc
infants ,mel young childrcn as a consequence of either
a physical or a psychological hun (eh 24). Uiagnosis
is usually not difficult when a detailed history of tbe
sequcnce of eveuts, with it clcM Iriggering eveFll, is
availabl~. 11,e <.eqllellce of events involves either crying
or oreath-holding thai raises intrathoracic pressure (a
Valsalva manoeuvrc) sufficiently (0 disluplvenolls n::turn
(lnd consequent ordii\C output. resulting in cerebr.ll
ischJemiJ, loss of consciousness and SOJllclimes a brief
hypoxic~eiL;u[,c, I:pilcpsy illlhc first (, months of life is
rarc allli occurs ill tht: presence of major underlying
hr.1in problems, a" seen in scvere birth dsphyxiJ or
infantilc spaSlllS with hyps,mhythmia. Thc stark
normality of AI] L infants. ollce recovered from the
eve11l, excludes Sl.1Ch a possibility.
P,1l1id syncop,ll cpisooe~, by contra,,(, (lre due 10
periods of asystole induce(l by a mildly unpleasant
ex~rience such as being placed in a bath Such infants
ha\'e been shown to develop periods of a~r'Stolt' of up
to U seconds (norm"l i~ < 2 seconds) following vagal
stimulation by eyeball compression P.llJid syncopal
attacks lend to fC,lturc e.strcmc pal1or. total limpness.
thO;' appeMance of death and p...rhaps a cold sweat with
a rnpid return to normality, pfE'sumably once the hean
restarts and a circulation is restored. Ag.'lin, a brief
lonic-donic scil.urc, secondary to cerebral isch.1emi,1
and not underlymg epilep~', IS not unusual. Diagnosis
of these conditions is largely by history, management
is by parclltal reassurance as to the bcnign naturc
of Ihe epi~odes, lind H(>;ltlllenl (with atropine)
highly specialized and not to be undertaken by the
enthusia~tic amateur.
Respiratory infections
Respir<ltory tran infections arf' the third most COIll-
mon ·cause' of AI ITs in the published literature.
The literature dead}' support:. the concept of
infants having 'funny' episodes while incubating
an infectious disease such as whooping cough or
bronchiolitis, often before other o\"ert signs of
infeClion. C'..onsequenlly Ihe pre..ence of an evolving
infection must ah"ays De considered [nfants who are
incubaling an infection have been demonstrdted 10
be phy.. iologicdlly differ(>lll, nOt showing the normal
sleep induced f,lll in core bodr temper,nure, for
e>.ample, for several days before o\'enl)' becoming
infeCled
Ilowever, a major probll'm wilh this liter,nure is the
tendcncy to diag,nosc a rcspir.ttory infection baS\.--d on
the prC"CllCc uf :.ll11fne,,", mucous)' nois)' bre<tthing or
a wbITze, "II of whtch arl' e:xtremdy common in the
healthy inf,ll1t popul.ltion and are usually not due to
an infection. Iinforllllltlh:ly there are no case control
studies sbm"ing mfeetions (rl'spirator)' or Olherwist')
to be more common in ALI'E infants th,ln in carefully
lIl"tched contrul..; C0l1~C4UCIIII}' we h.l\'c to rely on an
anecdotal I ilemtllr!? of ca"l? rl?ports
Other causes
IQrer causes of ALTEs. mostly single case reports,
inrlude IlH'taholi<" or I.h::vdopmcntal problt'ms, car-
diac conduction def~C1~ or llpp~r airway obstruc-
tion during sleep. Agi1in a careful history of tbe
evctll. ,\ dct.likd f,ltuily history ;Illd ,\ history o(
the infant's preceding health and development will
usu:tlly g,ive clues to an underlying problem requiring
ilm.:~tigatiutl. III rccurring AL:rEs (10% o( lht:: 100al)
inllined or f:lbrifalt'd episodc~ pose a diagnostic and
man:tgemcnt dilemma. often with parents dcmand-
in)!; cver more extcn~ivc in\lc:.tiK'l1iuns (or an infant in
rude good health (( hs 21 and 37).
Management
Management of AlTE.\ is made difficult by the poor-
qualilY conllicling litl?mtllfe and often by the huge
parental anxiety engendered by the witne!»ing of tbe
apparelltllc.lr-dcath of their inf'llll. Undcrstandably. if
a hl'ahhy infalll nearly dies, with no apparent cauS<',
then parents feel their b.1bics arc at a greater risk of
SUDt liMn if Ihis episode had not happcnt--d. II00R"\'cr,
the literature would S"y th,ll the subSo.:qUClll ri~k o(
SUDI i~ ,It 1ll0l>1 2-,~ til11l'S higlwr Ihan ll\l;' tMseline
SUDI risk II is important to translate this into an
actllal fisk for parents; in nonsmoking Caucasian
non·socially depri\led f.ltnilil..':'> the haM'line SlIDI risk
is abollt l/ROOO, so doubltl1g or trehling Ihis is still a
yery low risk situation Obviously for smoking parents
the baseline SUDI rbk r,mgt-os from 1/')80 ("lTloker) to
1/400 (most socially dis,ldv;lIl1agoo and.1 "maker)
ParE'nlS should be reassured that thl'sc CWlllS arc
moslly the result of pour/illllllrlllUe ph}'liinlogy, with
infants maturing out of Ihe danger of recurrence in
a maner of months. As a rough ~uide. 50% of\lI"L
infants will have d :.t-'Cond cpiSlXle, ",ilh 10% having
reoming epi'>Odes Also thl? fad th,u vel}' fe", SUOI
cases h'1\'e a prior wamin~ ('\"('1lI (3.6%) ,lIld Ihal
the actual re,k of SUD! 1:; :.till "cry low ~llOlIkI twlp
parent" cope. Imphilsi7ing the known fisk reduction
measures for SUDI also helps. as docs Ihe faet thai the
baby has esscntially sUI"ived the fiNt cpi'>(>t.Ie and is
inherently likely 10 survi....E' a second, should one occur
Unforlun,l1ely Ihe IileralurE' on physiolo~kal tcsting,i
sleep studies in Ant infal1l::' generdllr supporls the
conel?pt of immature underlying {especially sleep}
physiology, without suggesting any way ofintluencing
this or predicting recurrent episoJes.
Pilediatrician::. gcnerillly take a pragm,ltic approach
10 Ihe uS<' of cardiorespir,ltory monitors at home in
AL.:rE infants. despite there being c\iit.lence that their
use dol..'"l> 110t prevcnt the r<ll"t' ..ubsequt't1I occurrence
of ~L1DJ Monilors tlsed in th!? home tend to give
frequent false al.ums ,lnd generdtc cOllsiJcr<lhle
parental anxiety and l>lrt'~~. Howt:'wr, if IMretHS are
already wry dislre~..ed by the I\II"F - for example. if
they tHe taking turns to stay awakc at Ilight 10 watch
the baby - lhen lit .. usc of" monitor can help them
[0 cope beller. Las)' acces" to lhe unit issuing the
monitor is essential it thcre.He ,lilY isslle::. or worries,
and this i::. d l>crvkc p,\["cl1lS vallii' and rMely overuse
-
m
All pilrents should bo: t,lll~ht basic re~US(italion,
whils1 being reminded that whatever thc}' JiJ th..:
first tilll..: workcJ ,lIlJ would proh,)hly do "0 ag"in
,....'edic<ltion lise fm t1nntmpnted apnoe.1, including
C)
Glffeine or aminophylline. Ius no evidetlcc base
and generally lIledk,IJiI".cl> and complicilles tht'
:I
manageme!1t without any proven benefit; it is best -f
"voided. Thl' use of·sleep studies' is properly an area
for research iml..~ti)!;tltjoll and !/,cncrally acids little to
Ihe diagnoi>is or rnanagl?lIlt'nt of thl' infant
Reference
M.-c.owm \K' Smiln \1Il1l 100 I ClUQ'q.r ,11'1' ·"1 Iif.·
tnrl?i11('lliIlR I"\TTlt~ i 11 illr.lIll~ iI ~"'l('lll.lIi{ r iC\~ A" hi ...."" ur
Di>l?o\.St' in r:hildhNld R'l: 10.:1 1 1(1.18 401
 MaltllC\vs T 19n rhe i1l1lOllomir IW]'YOlIS ly~H'm -.1 role
Further reading lJ\ sudden infJlll death syndrome. ,\rchivt'l of I)j"ease in
Colrpnll..:r lit.. Irjo\<:IlS I \'1 UtJlr I'S >':1 al. 100.\ Sudden Childhood 67:654-656
unnl'l.lin<:oJ itlf,lIlllk,uh 111 t ....enty regions ill Europ€' ("<lse NatiollilL Instituu..s of HcalLh 1987 Consemus development
wmru! MuJ~, 1~1I1(l·t J63:185- l~l {onfncl\cc 011 inf,Il1lilc apliOCil and hOlllo' monitormg.
C.""rlllIlllll'C 011 h1lUlY. "lIlui""n t\GuJ.;mK uf I'<--.lialrics 1005 l'l."k'lrics 7:1292-299
f'ui,,,,, 11<:"IIllU[1 "' IIIl' hum.... ""...Ii.lInn Ill: 1181-1185

402
 James C. Nicholson Matthew Murray

Oncology and 51
palliative care
Learning outcomes 403
Aetiology and epidemiology of childhood cancer 403
Principles of cancer therapy 405
Presentation of malignancy 414
Paediatric oncology emergencies 414
SUpportive care 416
Palliative care 417
Specific malignancies 418
Rare tumours 423

..
By the end of this chapter you should:
• Have an understanding of the aetiology and epidemiology of childhood cancer
• Have the knowledge to assess a patient presenting with a malignancy
• Be able to select appropriate investigations for such a patient
• Be able to recognize and institute initial management of common complications of
cancer patients
• Understand the principles of different modalities used to treat cancer
• Be aware of the short- and long-term side-effects of chemotherapy and radiotherapy
• Be aware of the indications for stem cell or bone marrow transplantation
• Appreciate the issues involved in the care of a child with a life-limiting illness, including

-
m
symptom control
• Understand the concept of the paediatric oncology multidisciplinary team.
You should also take this opportunity to ensure that: Q
• Your history from, and examination of, the patient enable you to make an accurate
assessment/differential diagnosis ::I:
• You can interpret the results of a full blood count and peripheral film -I
• You can interpret electrolyte disturbances secondary to tumour lysis syndrome.

Aetiology and epidemiology Malignancy is the mO~1 conHllon (amI' of de.lIh

of childhood cancer
Childhood canccr is rare and accounts for only 0.5%
of all cancers, 'rlle overall risk of developing cancer in
childhood is I in 600 and there arc 1500 new cases
of childhood cancer in the UK each year, with a slight
preponderance of males.
in children in the 5-14-YCM age group and is second
only to trallma and ,l(cidcnl:> between IS i1nd I') ye,Hs
(I~lble 'il.l).
Very little is known about the aetiolOl,'Y of most
childhood canccrs. Inherited predisposition accounts 403
for less thiln 'i% of ("aw~ (lnd cllvirolllm:lltal fartors
playa minor role compared with adults Lxamples
 Table 51.1 Most common causes of death by age
(England and Wales 2002)
Age (years) Cause of death
COr.gerlital abnormalities
Sudden unexplalrl(l<:! dooth in infancy (SUDI;
S\1dden inlant death syndrome, SIDS)
Inlection
~ developing Wilms' tumour due to gelle alterations.
til Congerntai
o Traurna/accidenh;
"~> 514
Carocer
c,~
Trauma/accidents
iii Congenital
c. 15-19 Trauma/accidents
"0
"'~
ffi Congenital
'"o
Cl of inheriled syndrome.~ wilh a predi~posilioll for
oo c.w("er include familial Wilms' tumour, lIeckwith-
Wiedemann ( 10% develop tumours, of which Wilms'
c i~ most ("(Jill mon) and Jwuroflbromalosis-l (NF- I, 40-
o fold gre:Her risk of brain and spinal cord tumuurs than
th..: general populalion).
Inherited predisposition to
childhood cancer
I~('tinoblasturn<l i~ the !lIost common example and
provides a suitable model for understanding the principles
of inhcritcd prcdisposiLiun, having been linked to a
single gene lools. lamilial retinoblasloma aCCOllnt~ for
approximalely 40% of cases and presentation is usually
Glrly (first year uf lift:) alld bilateral. Sporadic cases preselll
later, <Ire unilateral <lnd are not associaltxl with a positive
family history. Survi\"ors of familial retinoblasloma have a
very high risk of dcveloping second primary tumours, of
which ClSleo~,lfcoma is the most common.
Ihese features of retinoblastoma were noted by
Knudson and led him to propose the 'two-hit' mutational
ItYI)(Jthesb in 1971. TIlis S!<l1t:S [hal (wo mln;ltion~ are
necessary in a cell for a tumour to develop In heredilary
cases lhe flfSl mutalion is germlinc while the second is
<;Qmalic. In sporadic cil~es two somalic mulalions arc
required in [he same cell for a tumour to develop
Knudson's hypothesis was confirmed in the 1980s with
[he idem ificat ion oft he rel inohl aslom;ltlll.noursuppressor
gene (/(131) on chromosome 13. Ht'tinobla~torna results as
.1 consequence of two mUlations in the RBI gene within
[he S0l11;11ic cell~ of Lhe retina.
In compMiwn 10 relinoblasloma, familial clusters
of other embryonal tumours are rare. For example,
in \Vilms' tumour, inhcrill."t1 GISCS ;Ire Lhoughl Lo
represent only 1% of all cases. Ileckwilh-Wiedernann
is lhe most common syndrome associated with \\films'.
Orgilllolllcg,lly, lUacroglos~ja, henlihypertophy, neonalal
404 hypoglycilcrnia <lml exomphalos are all features of
this fetal overgrowth syudwme. Around 10'% of G1Sl-'S
develop tumours, of which Wilms' is the most common,
and imprin1ing has been implicated as a causalive
mechanism, Palients wilh somc forms of syndrom..:s
involving aniridia, genital abnormalities, nephritis
and pseudohermaphroditism have up to a 50% risk of
NF~ 1 is inhcrilcd a1'o all ilut01'oomal domin;ln[ condi-
tion, ahhough many cases are new mutations. NI'-
1 is associated with ,1 risk of brain and spinal cord
lumours 4o~fold greillt:r than the gener;ll population
and aCCQUlllS for about 0.5% of all childhood cancers,
Low-grade optic nelve gliomas arc lhe most common
hrain lumours seen, wilh;l WOO-fold increased risk.
Molecular mechanisms for the
development of malignancies
Molecular mechJnisms for the developmenl of
lIIaJjgnancic~ all reLlle 10 the ahnalion in SHlIC1Ure
or aClivity of genes Ihat perform imponant regulatory
functions of growth or differentiation of cells in the
normal state. Thcse may indude:
• Mtltation or deletion of a tumour suppressor gene
These genes code for proteins that have negative
regulatory role~ in the cell cycle. C'All1lplele loss
of prolein function is required 10 initiale lhe
tumorigenic process and hence requires loss of
both genomic copies.
• Activation of;l 'prolo-oncogene', which then
becomes an oncogene, i.e, a tumour-promoting gene.
This may occur through mutation or amplificalion.
• Translocation of a gene to <I different locus ma}'
result in over-expression, as a result of juxtaposition
with a 'promoter' rL"giOll, or fusion with another
gell(> that creates an oncogenic 'fusion product'.
Subsequent tumorigenesis is a multistep process
involving the developmC1l1 of immortalizalioll of cdls,
growth f;lctor aUlOnomy, inhibilion of cell (1eath path-
waysfapoptosis (programmed cell death), angiogenesis
and lhe ability 10 invadc local lis~ue~/l11elast"lsizc.
'luJllOllr-Specific acquired chromosomal :tbnonna-
lities are seen in a wide range of solid and hacmatological
malignancies. \\'hilsl some of thesc appear 10 be random,
otllf'rs conform 1O recognized pallerns Wilh diagnoslic or
prognoslic significance. 'Ihe translocation t(9;22), result-
ing in the Philadelphia chromosome, was the first COll-
sislent cytogenelic ahnOnllalilY [0 he descrihed, occurring
in duonic myeloid leukaemia (eM!.) and in some high-
risk case; of acute lymphoblastic leukaemia (ALL),
Types of malignancy
The most COIII111on childllood malignancy is Icukaemia,
accounling for one-third of cases, fullowed by brain
 100 ~

!:I~ -
;2:1L ~--
o 5 10 15 20 25 JO 35 40
Years since dilgnosll

1- -
1992-96
1982 91
1972-81
1962-71 )
Fig. 51.2 Survival of childhood cancer IhItients diagnosed
in the UK from 1962 to 1996
(Cancer Research UK 2004)
Leukaemias 32%
Lymphoma 10% @ ht1p:/Iwww.ukccsg.org
eNS tumours 24% Association 101" Children with ufe- Threatening or
NeJrOb astoma 7% Terminal Condllions (ACT)

SofIlIssue sarooma 7"4 -lherapeUlic str.ltegies for chiJdhootl lll.,lligll.U1('ie,

'·.1rrs· wno.. 6"
Bore llnOlfi 4"4
Gem celll1l'11tUS 3'%
Rell11oblaSiOma 3%
• Jl'er ll.ml\r.i 1"4
CarcWlonil a'l:llTeIiIoofra 3'!0
Fig. 51.1 Percentage 01 cases by diagnostic group, ages
0-14 years, Great Britain 1989-98
(Cancor Rosearch UK 2004)
imd ~pillill tllmours, which constitute one-quaner of
r:t~es (Jig 'ill) All the other solid tumours account
for45% of C<lS~, of which lymphoma, neuroblastoma,
rhahdlllllyollarcorna 'lll.d Wilms' l.Limour are the most
common e'xlr,l("rani"f solid tumours.
Principles of cancer therapy
I,nny illlo Inals and centralized treatment has been
shown 10 be of direct benefit to ~tiems. In me UK. most
chilJrcn tire nO\\ treated on national or international
i>ludil:'S. coordinated by the Children's Cancer and
Leuk.lcmia Group {CCLG} which wall prt-...·iollsly
knuwn ,tll the t1KCCSG and has clo~ links with the
Inu~mil.lional ~iety of Paediatric Oncology (SlOP).
@ http://www.siop.nl
International SOCiety of Pae<!ratnc Oncology
indudechemOlheTa(J)" raJiothcr,tpy ilnd ~urgery, alone
or in comhiniltiOI1. ( hemotherapy forms the core or
Irealmelll. for the m.ljority and carc is theh:fort- usu.-l.lly
coordinated by piled iatric onwlogi"h, \\nrkmg in
design,ned centre.. C><-'OKraphirill wmldt'rauom dirl.1te
the pro... i~inn of some Ire.ltmen\. mdudinj.; much of the
suppomw c<lre. in loe.-1I h~pitJI:>, anJ thi.. \h.-l.fnl rotre'
is highly devdopt.'ti in PilrtS Ofllw UK
t\ lllullidisciplinary learn 'lpprooch is central to
management and should includ.: piu...'tii,llli, onmlogi'l",
haellloltolQR,ist), surg,--"OIls,. IlCUTOMlfgt'OIl.., radiation
oncologist .., "1:>t'CiaJist IIUrst'S for inpatient "nd Outpdlient
care, OIllrt':tch nurses. dieticians. play Ihcl.lpi,t... MJrial
workers. teachers dnd psyrho!ogi"h,
Prognosis
m
Overall cure r<.ltcll for rhildhood cmrn now exreed
70% in tilt: dcvdoped world (Fig ';1_2). There i.. d
wide variation between differcnt IUll.1Uur t}fw". I'or
-
C)
example, tocolliLt'ti Hodgkin'.. di......I,t' i.. 011',--,<1 in wdl
over ')0% of ca~, compared wuh Mound lMu III
J:
di.....eminaled neurobl.lstoma. The curn.:nl dlol.lll-ng(· -I
facing oncol~iSI5 is to Jl....·dop allli '--'rnplo~ Ir(',ltllleT1l
stfilU·llil..>s thai minirni:tA' long-term "ide dlccts 01
tre-alrnent wnhom compromising cure,
Chemotherapy
ChemothE'r'lpy is the mainstay of In.:dllllClll It)f llHY.'.1
types of paediatric malignancy. /\i,lllY (-ann'f\ pre"elll
as loc,tli/.t:d tumour massO's, bUI pre\"iou,> experience
has shown that 10c,l1 trealment with SUllo\Cry ,l.I1d/or 405
 M Phase-SpiCIflC:)
Vinca alkaloids

G,

M:osIS Jo

"' tosis
,,"
eel dMslon
(19"1 l2"fo)

Cell cycle
5yntt>1lSlS of

,_
~_d

requted for
DNA syn:hesis
s~ (40%)
CyooO~

Ant 'T'!ltatxJjdjes., B9 C~le-spec(fit:

rrelhotrex.a:e lI''Oll~ AJO()'Ia:i'lg agE!fl1$,
~
_
r
e
e.9cydo~
Artbot:cs.
e.g adl1orrJ}'On 0

Fig. 51.3 Schematic representation of the normal cell cycle and action of chemotherapeutic agents

radiotherapy .llon(' is insufficient for cure and may
resull in l.ller H.'(.urrCl\u.,:> ,II di~Ialll sites_ ror lhis
rCdson, l11U" p<lticllI<; re.rive lo)"'temlc ITC<llmt>nt
wnh rh~rnotherapy a<; well .1'<; IOC:l1 lher:lpy. Ihis has
resulted in .1 dramatic improvement in ovcrall cure
r,ltes in tIll' l.ll>l 20- OJ() Yt·<!rl>.
ChemOlher.1p}' may he given as:ldjuvant trealment
(follQ\"in~ slirAcry). ncoadjuVJIH treatment (before
l>Ul'gt:ry) or bOlh. Combination (hempy is usually
employed In incrl'<Iw I'ffirilC)'. rnluce development of
resistance and limit single organ loxicily. In order to
,let as cffecti"c lhclllolher,lpcutic agents, drugs mUSI
eillwr bllH" rei I rcplir<ltion or induce cell de:nh.
'Ihe cell cycle itself is di\'ided into four active phases
- G 1, S. G, ,Ind M - dnd ,I n:slillg phase, c.~ (rig. 51.3).
!\fler 0:11 divi<;ioll, cell" enler C( or 'gap' phase and then
synthesize UNA (oS phase) before ,1 second gap phase,
G,. Ccll~ ~ubl>equt:lllly enter ,'vI ph.-lsc, where milosis
occurs, resulting ill cdl divi!;ion.
In J-ggressive tllmours, many cells arc actively under-
going mitosis. gi\'inp, risc to a hiWI 'milOlic index' when
Sl.'(tiOllS of Ihe'M.' tUlllmw. Me examined under the
mirroscopo? Ih~ tllmours are morc likely to respond
to chcmother.lpy th,ln slow·growing, indolent lUmours
wilh il 10\\ mitotir index in which a large proportion
of cells are in the GJ resting ph,lsc.
Almosl all current ajitents employl.'d inlerfere wilh
rdl di"ision im!irtY!ly hy:
• Dam'lging Df'A
406 • mocking 0'1\ synthesis
• Interfering wilh Df\,A processing
• Disrupling mitosis.
111(' scl('oivil)' ofC)'tolOxic: drugs is dependelllllpon
lhe fan lhilt in m'lligllilllCY a higher proportion of
cells are undergo inA division dun in normal lil>sucs.
I lowever. Ihe differellce betwe('(1 an effective lreatmt:nt
dose and iI loxic one (the ther:lpeutir index) is often
quite small. AgentS may be phase-specific (work ,It a
particular phase of the cell eyrie) or work through all
phases (.yck'-slwcitic) (I ig. 'il.3).
Most common shon t('rm side-effects include vomit·
ing, mydosupprcssion, alopecia 'lild Il1ucositb. I.ong-
Icrm effcrts on organ funoion (kidneys. gnnads, hearing
and hean) are v:Hiable (BOX 51.1). Side·effects differ
depending on the agents employed; examples of lhese
arc gi\'cn below.
Administration of chemotherapy
CheIl10therdPY ~hould only be givell by fully lrained
individuals. aware of potential risks and complications,
and working in centres fully equipped ilnd acaeditt..-d
to support chelilOlhertlll}' adminislr,lI;oll. Dosage
is usually cilkul;ued according 10 surf.lee area. ~'Iost
ehemolhempy is adminislered illlravcnou:;ly; centml
venous acc~ i:. prcfcrrL'tI. 111C risk of exlm"C1sarlon
from peripher<\1 veins is grealesl with "Inca alkaloids
and amhracydines. A number of agents arc given orally
as liquids or tablelS, SUdl as ~Icroids. metholrexale and
mercaplopu ri ne in the'mai ntenance' ph<lse ofleu k.1emia
 BOX 51.1 Side-effects of chemotherapy
Short-term
• Nausea and vomiting
• Alopecia
• Myelosuppression
• Mucositis, diarrhoea
• Hepatitis
• Haemorrhagic cystitis
• Nephrotoxicity/renal tubular leak
• Encephalopathy
• Radiation recall
Long-term
• Cardiotoxicity
• Pulmonary fibrosis
• Nephrotoxicity/renal tubular leak
• Infertility
• Hearing loss
• Secondary malignancy
trCiltment. Certain drugs (e.g. ifosfamide, dsplatin and
mcthotrcxatt.::) arc givcn with concomitant intravcnous
fluids to minimize potential toxicity, Mesna is givcn
with cyclophosphamide ilnd ifosfamide to protect the
bladder from haemorrh<lgic cystitis, <Iud folinic acid
'rescue' is given with high-dose methotrexilte; folinic
acid is selectively taken up by normal cells and helps to
minimi.~c Illllfositis and other side-cffecL.., The benefit
of cardioprOleClive agents (given with anthracyc1inl:'sJ
remains unproven,
Intrathecal chemotherapy
Intrat hecal methotrexate (Lt. MTX) is used for treatment
or prophyidxis of central nervous system (eNS) discase
in leukaemia and non-Hodgkin's lymphoma (NHL)
SafelY of arrangements for admi nistration of intrathecal
chelllOtherapy is p<lfamount because of the catastrophic
consequence of intrathecal administration of vin-
cristine, which results in coma and death, Department
of Health guidelincs now statc that administration of
i.1. mcthotrex<lte ;mel i.v. vincrhtine mUSl take pl<lce in
separate clinical <lre<ls and at different times Doctors
must be trained, be on the intrathecal register and
b~ of R'gistrar level or above. Some pharmacies will
not dispense vincristine unless they willless a signed
drug chart demonstrating Ihat methotrexate has bcen
given, and vice \'erS<l, Vincristine sllOuld never be gillen
inlTrllherally_
Monitoring for toxicity dcpends on the agcnts. us.ed
;mel may include lhe following during or bd\\"een
courses:
• rull blood counl (H3C)
• Ekctrolyles and liver fUllction
• (;Iomerular filtr<ltion r<lte {Cnq me<lSUremenl
• Ile<lring tests
• EchocardiogrJl1l.
High-dose (HD) therapy and stem cell
transplant
1l1i~ involve~ 'conditioning', which is the tlelivery of
mydo-ablative doses of chemotherapy and/or 101;'\1 body
irradiation to thc patiellt. 111is is follow..:d by reseu..: with
haelllopoietic .~tem rdls, whirh may he autologous,
deri\"L"<i from the patient him- or herself, or allogeneic,
for which the donor may be a sibling. lllatcll..:J uurdated
donor or occ.asionally luplo-idt't11iral from a p<lft'nt.
COlweTltional bone marrow lramplallt (11M"!),
in which stem cells are haryested directly from the
bout' marrow, i.s usually UIlt'l1 (or allogmfts. I\:ripheral
blood slem cell transplants (PI3SCI) are favoured for
autografts. Stem cells are harvcsted by Jeucopheresis
from periphcral blood using granulocyte colony
stilllulating factor (C-CSI') 10 mobilize lhem from the
bone marrow after priming with chemotherapy. After
high-dose chemother<lpy, thew plurirolenlial Slem cells
from I~MT or PBSCI are reinfused intravenously and
subsequently repopulate the marrow. Advantages of
PBscr include Jess risk of tUlllour COlltam ination from
marrow affected by disease, more r<lpid engraftlllel11
(usually 2-4 weeks), less severe infections and Jvoidance
of <lll<l..:sthetic for harvesti ng,
Indic<llions for use in childhood Ill<llign:mcy include
selected high-risk and relapsed Ieukaelllias (allograft),
high-risk solid tumours, including lTH'ta~t<llir neum-
bla~toma, high-risk Ewing's sarcom<l and relapsed
tumours (aulOlogollS). The p<itient should be In remis-
sion prior to the procedure for it 10 bc dTccti\'c.
C":allSes of morhidity and rnort<llity from stem cell
tr<lnsplant include grafl failure, infection second.u)' to
profound immune suppression, l11uco~itis and veno-
occlusiw' d iseilse of the Iiver. Allografts caTty greater ri..k,
with <lpproximately 10% procedure-related mortality.
Graft versus hosl disease (GvIID) is d ]J<1rticular ri..k;
-
m
Q
it may affen <lny organ Sy~l('l1l hw cOlTllilonly skin
and g<lslrointestin<ll system are involved. Ciclosporin
:I
A is given as prophylaxis ,lnd steroids may also bc -I
employcd in treatmcnt.
Radiotherapy
I~adiotherapy is the clinical use of ionizing radiation
to kill cancer cdls. Dose and fractionation (number of
tr..:atnlents to dtl iver <l tot<ll dosc) \'<lry accord ing to the
nat 1I re of the tunlour and toler<lnce of the surroundi ng
tissues. The tMget volume is delermined by size Jnd 407
 type of tUIllOur and includc" a ~tlfely margin. Thc aim
BOX 51..2 Common side-effects of radiotherapy
i~ 10 deliver dft><liw Irealment to The target volume
whilst sparing surrounding tissues Acute
• Nausea and vomiting
51
• Cutaneous erythema/desquamation
Indications
• Diarmoea
It.ldiolh;>r,lp)' is in<licatcrl in selooecl C3S("S of Ilodgkin's • MyelosuppressIon
disedS('. neuroblastoma Wilms' tumour. soft tissue • Pneumol1ltis
tlncl Iwings s.lTconl.ll> tlnd most subgroups of CKS • Hepatitis
turnouTS.
Late
Sludk-s h.we shown only limited benefit in ostco-
~.lrflH'l.l, e>.tr,lfTtlT1ial g€Tm fell tumours and Nil!.. • Cardlotoxicity
In ll?l1k,u;>mi,\. r,ldiotherapy is limited to ueaunl?nt of • lung dysfunction
the eNS, to tcsticular discase and 10 conditioninF, for • Renal dysfunction
gl\ II (tot,ll body irradiation. 1111). It"dint herap}' is also • Musculoskeletal hypoplasia/asymmetry
l1~"cl for symptom mntrol ;n palliiltive (..He, e.g. bony • Hypothyroidism
metastases. spinal cord compression. • SpInal growth
(lrl'par,ilion for radiolherapy inc1u(1l'l>: • HYPOPItuitarism
• 1'1,1nning. hy combination ofcomputed tomography • Neuropsychological sequelae
(CI") .md magnetic resonance imas;ing (,\lRI)
• Cataracts
• Immobili&alion ming 1Il,,~ks/'lhdb., tattuos as
• Infertility
markl?rs, wdation or genl?ral ,1naesthesia for
youngest children • Second primary tumours (-5%)
• Protection of surrounding tit>sut.'s (eg gonads)
usmg It'ad shields
• Involvement of play therapislS, who have ,1 central
rolc in this process. Supportive and emergency care
• .'"'aoagement of the aCUle abdomen in nelliropeni,
Side-effects p3tient~ (patienls mar d('wlop neutropenic colitis,
also known as typhlitis).
loxicity of rddiOlheT<1py i~ potellli,ltecl U}' cerlaill ChelllD- • 1t1bed intracrani.JI prcs:.ure ('CI~) .1Ild spinal cord
thpT<lIW agel1l~, e.g aoinomynn [) or ,1nlhracydines cOll1pres~lon (urgent referral 10 neurosurgic.l1
Ibis may ~ive rise to the phenomenon of 'radiation cenlre)
rt.'f,11t \\tu:n thL'SC druKS arc uS(.-J after [;\djothcrap)~ • Most children receiving ch(,llIother,lpy will require
fdllSillg fllnher lLITlMge (0 tht' organ!tl:-.stles. Side-effe(1~ a lunnelled central venom line: l?ither a 'Ilickman'
C,ln be d.1Ssjfied as acute or klte and depend on the line or a 'l'ortacath'.
dose ,md site 10 which radiolher,lpy is given, as well
<1S the elge or
lhe p,-\lielll <11 Ih .. time of radiotherapy
(llox 51 2). L.1te effeCis of chemotherap}' may occur Problem-orientated topic;
months or evell yeiHs after lr('<I!lllen\, and arc usually neck mass
progrt'~sive .uHl irreversible
Jodie. an 11-year-old girl. preeent9 with a
painlei5i5 lump in the right 5ide of her neck
Surgery which wat> noticed 4 monthe ago. She hS5
Surgical interventions for solid tumours had two COUri5e5 of antibiotice with no
benefit. The lump walS approximately the
• Chemotherapy and/or radiOlherapy
lJj(>f'S}' OFI/)".
6ize of a broad bean when fir5t noticed but
may be curati",c without runher liurgery. eg
Ilodgkln·s di....aSt', "'Ill rhabdomyosarcoma has enlarged 5teadity. and a elmJlar lump has
genn cell tumours. appeared over the la5t 2 weeks on the left
• Rt'.'t'dit''', prim.,,}' (I[ j;,1I01I'I1Ig .·h0'7FlOlheTlIPf side. Jodie has 105t a little weight over the lalSt
(:ompletl?ness of excision Infhll?nces subsequent few week5 but ha5 had no other constitutional
m.'Cd for adjunctin: treatment (radiotherapy or symptom5. Examination reveale a firm. non-
chemotherapy). e.g. bone tumours. Wilms' tumour, tender ma55 measuring 4 cm by 3 cm in the
408 ht'palOhl.l~tom.'l and most C"'~ tumours. right anterior cervical triangle and a 2 cm lump
 in a similar position on the left; side. Although
she appears thin. there are no other positlve
findings on general examination.
Q 1. What are the features pointing to a diagnos:s of
malignancy?
Q2. What other informanon from the history and
examination would help in the differential
diagnosis?
Q3. What is the dlfferenllal diagnosIs?
Q4. How should Jodie be managed?
Q1. What are the features pointing to a
diagnosis of malignancy?
En],lrgt'd e,'rviCilI nodes in children are \'el)' common; the
diffErential diagnosis is wide and nl.llignandcs accouul
for only .1 very slIldll fr.lcLion of G1st,;. Howt-...~r, delay
in diilgnosis llIay haw serious ad\1'rse consequences, in
tenns of extelll of disease, intensity of tre,ltmcnt rcquirt->J
and ultimate prognosis. so it is illllJOffillU 10 inV{'Slig;ue
G1SC> thoroughly if there are features suggesling the
po<;sibilily of malign,lney.
Suspicious features in this case arc.
• Ab!>CIKC of :.ymploms or signs of infection 10
dCCOU11l for Iymph.ldenopathy
• Weight loss
• SiLC ,md eh,uarteristics of nodes ,,"odes:> 2 em
in di:H1H.'ter are.l cause for concern and warrant
consideration for biopsy. ll1is patklll hal> nodes
thdl Me sigllifi«lntly bigger than this and are
prugre:,slvely enlarging. Although they are not
described as fixed or rubbery. terms particularly
associ.Hed with llldlignanry, tlwy are firm and Ilon-
lenckr, hoth fealures consistenl wilh a di:lgnosis of
m;llignilncy_
Q2. What other infonnation from the
history and examination would help in
the differential diagnosis?
Age
Of the malign,llIt causes. Hodgkin':. di~ease is more
li"el}' in olde-r childre-n, rarl:'ly occurring Mfore- the age
of 5, whereas "IlL and All. are morc likely to be seen
in younger chill.!rcn. Dissemillilll.xl neurohla<;toma is
unusual in children over 5 years old
Systemic symptoms
'1 he.e Illily help point lOwards lhe cauSt", whether
infeClive or malignant In p.lnicular. weight loss is a
common finding ill children wilh e,meer and. when
combined wilh fewr and nighl :.we,II<;, IS partinllarly
associated with Ilodgkin's disease (U symploms).
Rate of progression
t\ time.cilk of days 10 weeks is more sU~li\"C of NIIL
or ALI, whils! Ilodgkin's disease lends tu progrt::.<;
more slowly and the history may sp.lIl many inDIum
Characteristics of nodes
In addition to l>i,Ge anI.! presence or abM't1ce of tender
ness, Icxtllrf' (firm, hard. craggy, rubbery. soh, lIuctuant)
and mobility (fixed, lethered, mobile) llIay he hdpful
Systemic examination
'I-his may rl:'"e.ll evidence of a primal)' tUl1luurorof p.l1Im,
bruising and/or petechiae, sugg<"'tiw of pantylopcni:t
1\ dlilJ wilh advanced dise<lse may look pille ilild non-
specifically lIllwell Presence of other p.l1pable lymph
nodes al all olher staLions and hepatospll.'nornegaly
should be WlIHnented on Supracl;tvicular or axillal)'
lymphadenopathy is more likely 10 rcfkct ,In under-
lying ma.lignant proo.'l>S.
Q3. What is the differential diagnosis?
Ilodgkill ~di~ .llld NH L may bolh present wilh cenica1
lymph41deoop<llhy. as m.l}' AIL Distant spread from o!ht-'J
solid m.llignancies is less common but nt-'\lroblil'ioIOm41
should be cotlsil.!crcrl and rtl41bdolnrosaK"oma and
mlsoph<1l)'ngeal carcinoma are also I"l'COI;nizcd causes in
childhood llodgkin's disease is lhe m()~1 likdy, giwn Ihe
age of Lhe p.llit-1tt.- the rdatiwly ~Iow progression and
Ihc lack of systemic disturbance that ,,"ould be St.'Cn
commonly with ALLor Nlll.
Other po~sjbililk'S lO consider I1lrlude bacterial
infectir)l1, viml infection including cat scratch fever,
toxoplasmosis, and rarely connective lis~ue dbord('l:. or
KJ.wilsaki disease. Atypi,al mycob;teleria may produce
large nodes in ~1Il othel'\visewell chi let that may be diHicull
to differentiate and will need (completc) cx\ i~i(Jl1 hiopsy
(bolh to Lredt efk't"tivdy ;tnd to exclude malign:mcy)
Q4. How should Jodie be managed?
-
m
C)
Initial investigations
::E:
'1 hese should look for e'o'idencc of mediaslilldl and -I
intra-abdominal pathology, and cxrludt, other causes
of Iymphadcnopat hr'
• (hest X-ray (CXR)
• Abdominal ultrasound
• Full hlood collm and film: not \-ery discriminating
diagnostically, but if pancytOpenia is present, thi~
points to bone marrow involvement <1~ pMt of a
malignant IHOC!:':'<S
• Viral serology. 409
 Biopsy
Ihi... ~h(}lIld hI' :Hr<lngt·d without w<liting for <Ill the
results of other invee;tigatione; in this patient, bec<luse
of the size of the nodes It should be an excision
hiop... y to rnaximiz..: th..: yidll of diaKlloslic material
and minimi;t.£ the nn'd for wcond-look i;urgery in the
C.lSe of .1typic.l1 mycobacterial infection. If the history
wer..: orJ\'lIIph no(h:s th.1t were morc borderline in size
(eg I ')-2 em) and the above in\'esligations did nm
suggest mJ.lign,lncy. it would be reasonable to observe
for 4-6 w..:cks ,lIId thell pmo:cd to biopsy if there had
been no rf'duction
Staging investigations
Further I1IdnJgelttettl.. if lIlali~l.nancy is confirmed or
comldert"d highly Ii"ely, nMy include the following
staging investig.ltions
• Bone 11I.11'1'0\\ CXdmin3tion (aspirate and lrephine)
• 1..1Imbaqlunolire (if 1\1.1 or NIIl.)
• Cl or MR.I.scan of chest and abdomen (not needed
if .'\1.1. contlnlll.'d)
• ISOlope &Cilns (tt>Chllt'lilllll or mlRG, meta-
iodobenzylguanidine imaging), according 10
prillldry didll.llOsis
• Kawlint:· fluoro<.koxyglllrose positrolll.'lIlbsion
lomogr.lphy (Inc.; 1'1 I) SC.lm may become
roUline. paniclliarly for Ilodgkin s dise,lSe.
Baseline investigations and procedures
lla~line investigations and procedures prior to slaning
trc.ltmcllI, rd.lIed to re'OKlli.lcd toxicities of chemo-
lhl'r:lPY. varying "ccording 10 diagnmis and regimen
employed. l'hey may include:
• Echoc.HdioW.llll
• lung flll1rtiolltt·~"
• C H{ or cre;u inine c1ear:lI1ce
• AudiometlY
• Sperlll cryopl\'M'rv:llion.
Problem-orientated topic:
respiratory compromise
Naseem, a 9-year-old poy, has experienced
episodes of wheezing for:3 weeks. steadily
increa5ing in frequency and severity. He is
now una pIe to sleep lying horizontally. He
has peen previou51y well with no hospital
admissions, no hi5tory of a5thma and no
family history of atopy. His GP has given
him a trial of inhaled bronchodilat()r$ put
these seem to have made little difference.
On examination, he is a little pale with
410 obviou6 dy6pnoea, rece6sion, marked
expiratory wheeze throughout the chest
and some small 'shotty' cervieallymph
nodes, none more than 0,5 em in diameter.
Ql. Why should this not be treated as asthma
without further investigation?
Q2. What is the dIfferential d agnosls?
Q3. What investigations should be performed?
Q4. What is your IMlal management 01 Naseem?
Q1. Why should this not be treated as
asthma without further investigation?
Anychild preseming for the fi~1 time with wheeze. 5('\'\."'1"e
cllough to nL'\.x! marc th,1Il simple brondux!ililtors.
warrants further inwslig.;lIion wilh iI L'\R before being
wated as asthmatic. Simil.1r1y, any marked change
in pattcrn of whecolC in a knowll aslhnMtic ~houkl
be investigalt"d. (:hildren wilh a mediastin,ll mass
presenting with wheeze may ha....e clinical signs that
arc atypicdl for dsthnM but this is not always "0. 1l1C'S('
include evidence of rom pression of the superior ven.l
C:l\'a (p 41 :)), prolUl:terance of Ihe chest wall .secondary
to the tumour mass, unilateral wheeze, dTu~ioll, p.llIor
and pc...."("hiac. A trid! of stt'roid~ for a pre1>urnptivt'
diagno1>ie; of de;thm:t could bt.' cala1>lrophic in Ihe event
of malignancy, panicularly Iymphoblaslic lymphoma
or Icuk.tcllli" (NIH. or All.), as lifc-threatcning
tumour IY~l'" could he precipilaled I';tnial lr€,<llmenl
of Ihese conditions can also delay or prevent J,ccur.lte
diagl1osi~, ,llId Ill,tY illlpMt it wor...e prugnosis.
In thi~ Cil'\t:". IIIC hi~lOry ::11011<' should r;lise smpicions.
CI'h;s boy h:1~ experienced T:lpid proAression of his ainvay
obstruction with poor lesponse to bronchodil,ttors,
WilhUllt a prCV;OlJ~ Ilj~tOry I,f astllll1,l. ·Ille presence
of small lymph nodes {< 05 cm] is not in itself
particularly helpful 'IS thc}' ,1I"C cxtn.:mdy COIllIll\J1l ill
children and r<lrdy ...ignitlc,1Il1.
Q2. What is the differential diagnosis?
Causes of mediastinal masses in children arc shown
in Table 51.2, [n thb Cdse, the lllmt likely cause;~ T
cdl f\.HI or 1\11., haSt·d on the shan history Civen
thie; hislOry. non malignant C.1uses arc unlikely.
Foreign body inhdlation could prCSCllt in this way,
although Ihe history would generally be much
shaner - minutes or hours rather than days or
weeks. Structural abnoTlllcllitics arc likely to have
presented in infancy rather than this Iall~ in child·
hood. IleaI'I failure may present in this way. after cl
viral illness causing a cardiomyopathy, but would be
extremely rilfe.
Table 51.2 Differential diagnosis of mediastinal mass in intensive care un il Cood intravenous access ~huulJ IlC
childhood
secured, ideally cenlrally, ~urh .l~ vi,) it fCIHorallinl'
Anler;()I' Posterior ·111C order of fun her ilwe!>lig.lI10n~;lIld management
mediastinal mediastinal
will be dicta led by the condition of the child, who liMy
MaliQr'anl T<eINHL' N<!llrotastoma'
be al risk of severe acute rcspil,IIOly f,lilllTe C'~utioll
ALL' Gar'lQiOnel'OOlastorna
HocIgkrl'3 et 3e<I9t::' Sw","" should be excrcbcd in I.lying any ~L1ch child flat in
Mubgnanlgt.'m ~ 1,JIl Ol.lf Phaeochr0ll'0CJ10lT'.a a scanner WilhoUI full anaesthetic suppan present.
Rhoodof'l)oo9tlfCOlfl!:l Avoid any sed:uion for SC.lllS in such <-hildrcn, i1~ thi:\.
____--=E:,,:ng~,~':~:..:~:..._---;cc:_:.,__.,__---- may rcsult in lus~ of "irway lOne and subsequent
Benigr' Teral'1ma GangIIor,EMoma r~'Spir:llary arrest
C)''5-': ho,g!:Yna $cr........, ce t.-no<s "l'lle aim should be 10 obtain ddinitiw di,lgnostic
~oma Nolrofibroma
material and procct,xl swiftly 10 definilive tre.ltmenl.
;;"''I'''liC C',Sf Bn"Choger-oc C)st
HO\\oC\·er, in the C\-ent that open procedures or general
· 'kS!: ~ 'nOIIlIgI Jll <.:au:sa5 .' ''leClastll'al rrWlSS If',H.. non-
'-too s ~>OIT'.a; A....l.. ac",~ ;"1'OhOtlIaS:ic 1eUIae"T'~ anaesthetic are considered 100 hou:..udolL\. lreillmelll
with chemotherdpy m,ly haw 10 commence without
tissue diagno~is.
Q3. What investigations should be
Commencing chemotherapy
performed?
If ALL or 'lHI. i~ confirmed. then treatment with oral
• C'\R (preferably poslcrior-dnterior and lateral) steroids (prednisolone or dexamcthasone), with or
will bc cnough tu demonStrale the presence of.l withom \·incristine. mdY be :;ufficient a.s initial treat-
mass caUSIng (h~ symptoms together wilh ,lilY mell1 in the ..ickesl cases. Ilyperhydration should
associ.ned e"usion accompany Irealmem, together with dllopurinol or
• IT S«1ll of ("hl'~t and abdomen for staging may also Ur:lte oxidase to minimi.::e lhe ri:;" of se..ere lumour
provide useful addltion,ll information regarding Iy-sis syndrome (p, 414)
compr€'$Sion of the .lim'ay if J general anaesthetic
is bein~ considered fur subsequent procedures Monitoring
• [)din;ti\'t~ 't;I>SlH." diagnOSIs from one of the 'Ihe response to chelllolhcr.tpy may he dramatic in T-cell
farrowing: lymphoblastic di:;ease and lhe allendant risk of tumour
- FBC ilnd film (llldY be sufficielll ifT cell ALl lysis high Renal function Jnd c1C<:lrolytl~ should be
with high while cell COUnt) monitored 4-6-houdy illili;,rly, amI Illonitoringshould
Bone marro\\" .lspirate include a:;S(,~SIl1t'11l ofcalcium, phosphale and uric acid.
- Lumbar puncture (rarely rositivc hUI should oc Alkalinizalion ofunne to help dear uratc should not be
pcr(orrlled if possible) or
neccss..ltywith lhe aVJiI.lbility urnt(-' oxid:1:;e and maj'
Pleur,ll tap exacccbate hyperpIHlsphat<H'mi,l.
Biopsy of lymph node llIdS~: via thora,olomy
or Incdi,l~l i Ilo~,opy if l1wre :1 re no significant Problem-orientated topic:
peripheral lymph nodes
Serum tumour lll<ll'kiCr: a-fct.ul'rutcin (Arr) abdominal mass

m
-
:1lu1 human chorionic gonadotrophin (heG) A 2-year-old boy, John, attend5 the OP's
ma}' be elevated in ~erm cell tumours, which surgery with his mother after she notice6
arise in the midline dud lIlay mrely tI,cur in lhe

"
whil6t bathinfj him that hilS abdomen appe21t'5
mediaSlilllUTI
di6tended. On reflection IShe admits that
Ifone of the above inve5tig..ltions provides the defini- it may have been distended for 2 week6 but J:
tive diagnosis, then there will be 110 J1(_"t.-d to perform all
of the nthcN, the aim lwing 10 ;woid the mo~t invasive
has become more ol7vious in the lalSt:3 days. -t
There i6 no other history of note.
im·eslig.lt ions.
Examination reveals a lal'fle firm ma5e in the
right ISide of the abdomen. Blood pressure is
Q4. What is your initial management of
145/85 mmHg. Urinalye;ie reveale moderate
Naseem?
protein only.
Ihechild should be nUJ'S(>d on a high-dependencyunil.
lIe may well need e1eai\'e intubJlion and mechanical Ql What are the two most likely diagnoses?
\·cnulation 10 prolcet the airway, wilh transfer 10 an COf'MuedOWY'..eef 411
 Q2, What else should you look for in your clinical
evaluation?
Q3, What further investigations are warranted
and why?
~
o •
Q1. What are the two most likely
Q)
> diagnoses?
~ l'he two most likely diagnoses are right-sided Wilms'
til tumour (JH:phrobla~tol1la) and JlcurobL.lstollla. Thcsc
..,
Q. tU1llours il{"count for 6%. <lnd 7% of 101<11 p<ledi<ltrir
m<lligJ1<1ncies respectively. The incidenl<ll finding of
ii an abdominill mass without other symptoms makes a
Wilms' tumour th" most lih~ly diagnmis. The preSCllrc
>.
0> of signifirant hypertension can occur in bOlh Wilms'
a
oo tumour and neuroblastoma but is very rare in any
ot hn <lbdom inal tu moul".
c
o The IUIllOur may be difficult to differentiate from
hepJlOmeg.l.ly or J li\'cr mass such as hcpatoblastom<l,
although ;t ~hould he pos.~ihle on examinat ion to p<llpatc
above a Wilms' tumour or neurobbstoma. In addition
primary liver tumours in paediatrics are very rare. Other
rare GIU~CS of a malignant abdominal mass indude Bcdl
lymphoma and rhabdomyos,arcoma, ilhhough the laller
usually arises from within the pelvis,
Q2. What else should you look for in your
clinical evaluation?
Wilms' tumour is <lssoci'lted with a Ilumber of syn-
dromes. The presence or absence of dinical signs of
th...-:,c sylH.lromcs should be documentcd: for example,
hem ihyr'H.:nrophy. Rtxkwith-Wiedemanl1 (m<lcroglo~sia,
umbiliCill defects, horizontal e<lrlobe crease), WACI{
(aniridia, \Vilms', microcephaly, cryptorchidism).
In addition, evidence of metastatic disease should
be sought. Mos! Wilms' tumours present as localized
disease, The most common site for metastases in
Wilms' is the lungs but this is usually asymplom<ltic.
Ilowever, most children with neurohlilstomil present
with advanced disease, and symptoms and signs
oflcn cOllle from ~ites of metilstasis, e.g. 'panda' cye1>
due to periorbil<ll infiltration. or from constitutional
symptoms associaled with advanced disease such as
CilChexiil and gl.:ueralized wasting.
Q3. What further investigations are
warranted and why?
• lInnl' ClHcclwlllmines (homov<lnill ic <lcid, IIVA,
and vanillylmandeJic acid, VMA): elevated in
ncurobJ..lstoma. 1\ single spot sample is ~uf6cient,
412 a<; levds <He expressed il<; ratios with creatinine.
• Ullra.IQund of the abdomen: 10 confirm renal or
adrenal mass. Calcification is strongly suggestive of
neuroblastoma.
• CXR: sl;lging forWilm.<
• cr chest and abdomen: further staging may
demonstrate intra-<lbdominallymphadcnopathy
more dearly thall ultrasound.
I;Cr.jecl!o((/rdiogram: patient is hypertensive and
therefore e"idencc of hean strain should be sought.
It is important to perform baseline invcsligiltions,
dS chemotherapy may indude cardiotoxic agents,
• Blood (ests, including rBG, clotting, urea and
clectrolytes, liver fUllction tests, ferritin, l<letale
dehydrogenase (LDII) and neuron-specific enolase
(NSE): NSE and ferritin arc tumour markers for
neuroblastoma.
• Hiopsy to est<lblish definitive di<lgnosis: ultrasound/
•
CT-guided needle biopsy or open procedure.
Further ~Iagillg: may be requi red, dept'nding on tht:
results of olher investigations, e.g. bone scan Jnd
bone marrow aspirates/trephines in neuroblastolilil.
Problem-orientated topic:
limb swelling
Anna, a 14~year~old girl, has a 4~month
history of pain in her right lower leg. fhe pain
can wake her at night. Over the last month
she has noticed a swelling over her right
shin. She is a keen gymnast and her parents
have attributed her symptoms to 'growing
pair16'. although they note she had a fall from
parallel bare 6 monthe preViously.
On examination, ehe appears well. fhere is
a tender smooth 12 x 8 cm swelling over
the medial aepect of the upper third of the
right tibia. fhe rest of the examination is
unremarkable.
Ql. What is the most likely diagnosis? What benign
condition may this be confused with?
Q2. What would you expect to see on plain X-ray?
Q3. What other investigations would you perform?
Q1. What is the most likely diagnosis?
What benign condition may this be
confused with?
Osteosarcoma is most likely. Bone tUlllour~ affOlllH
for 4% of all paedi<l(l"ic mal igna Ilcies, of which Dsteo-
sarcoma and l:wing's sarcoma account for more than
')O'lo, BOlh have a IX--ak im-jdenct: at 12-14 yc.m of age,
da,"ic<llly presenting with pain and subc;equent swelling
over lhe .1ffected area. Over 90% of ostOOS<1rcomas
arc loc.1led in the metaph)'5is (growth pldte) of bone.
Aroullll 8Mo occur in lhe bone'i around th.... kntt (i.e.
dis1.al femur, proximal tibia or fibula). In contrast, most
lwins;s s.ucomas occur in the diaphysis (mid-shaft) of
the bone ,1lld only about one-third occur in the femur.
tibia and fibula collectively. Lwing's is more often
associated \, ith fever, soft tissue masses and neryc root
p<lin. It may be difficult 10 distinguish I.wing's from
chronic osteomyelitis on the basis of history, clinical
cx,lminatiOIl and radiological findings.
TIu: benign condition which thi'i may he confused
with i<; O'igood-Schblter's syndrome. 111is is
apophysitis of the tibial tuberosity. occurring in
cbildren ,tgel! 10-14 year~. II is lIsufllly bilaleral.
P<lill i'i felt O\'er lhe tibial tuberosity. just below the
knee, .1nd is worse with strenuous exercise. '1 he tibial
tubcro..ily i~ prominent alld lemler 10 palpation.
Plain X-r;ly<; 'ihould be performed to exclude other
pathology ,llld demonstrate simple enlil!"KemCnl of the
tibidl tubero~ity only. The mndititJl1 is sdf.limiting
and re'i!XllUl'i to resl and simple analgesics.
~ignific.ml diagnostic delay often occurs in such
cases, as symptoms arc attributed to 'growing pains'.
The 1I,nure of the pain, being both unilat~ral and
causing w;l"ing at night, is not consistent with this.
It is also important not to be put off boy it history of
tr<lunl<l; P:lli(,llt~ and families are frequell1ly able to
rl'call epi'iodes of trauma in an attempt to explain
symptoms that turn out to be prL'ScllIations of
Illa I ign ,Inri e:-.
Q2. What would you expect to see on
plain X-ray?
Osu'osarCCHna'i h:lVe a c1assic..1appearance on X-ray of
eh.lOtic new bone formalion, dcMrunioll of the ,ortex
and wrtiCOII de",uion. Thb is known a~ 'Codman's
tri,1d'.
In £wing's S,ucoma bone dcstnlCtiOll giv(.~ rise to a
'muth-c,ltcn' <lPllcarall,C- C.onkillthi'kcning <lIsa usually
OCOH'i, Ilowever, n~ bone fonnation is rare, unlike in
osteosarcoma and in addition, the soft tissue component
of Ewiug's may be visualized on plain X.ray.
Q3. What other investigations would you
pertorm?
• MRI orIIII' primdry l~iO/l; to allow dCCUr,lle planning
for biop.'>\' a~ well as a baselinf' 10 as~ess response
to ,hemotherapy prior to defin itive surgery
• ex./? allil CT dle.,': 10 look for eviden,t;' of
pulmonary metastases (10% in ostcosarcom,l, 25%
in b,·in,:;'s)
• Tedlllt"iuIII l"bdled bolle .-UI1I: if l'uggt,\tive of
mctastatic lesions then these should be confinned
with \1RI
• BO'le IIlllnult' fl5pimte~ ullli tn'P11ll16: in I'wing''i Ull 10
10% of palicnts haw bone marrow invoh'('ment at
diagnOSIs.
Problem-orientated topic:
headache (see also p. 13)
A 6~year·old girl. Lauren. pre!HlMt9 to the
accident and emergency department with a
3-week history of morning headache9 and
intermittent vomiting, having previou91y
been well. Her parents have noted that 5he
appearlS more clumsy than u9ual and that
she halS been falling over. As a result, her
parentIS report that her attendance at school
recently halS been poor.
On examination she is apyrexial. Blood
pressure Is 90/55 mmHg. Ataxia and past-
pointing are demonstrated. On fundoscopy
bilatual papilloedema is seen to be
present.
Q1. What is the most likely cause lor thIS
presentation?
Q2. What other conditions should be considered?
Q3. What investigations should be arranged?
Q4. What are the initial aims of management?
Q5. After establishing the diagnosis, what general
management options can be pursued?
-
m
C)
Q1. What is the most likely cause for this
presentation? ::t
Ilcdddehcs dud vomiting arc lhe classical symptoms ~
of rai'ied 1(:1' ·1 his is associated with cerebelldr symp-
toms such as ataxia, nystagmus dnd l><lst-pointing It
should l>c noted that the absence of p<lpilloedema
does no. e),dude raised IU'. '1 he most likely diag-
nosis is a posterior fossa tumour. The fIlOM ,am-
mon tumours at this sile are mcclullohlaSloma or
low-grnde astrocytoma, but ependYllloma is also
seen A long hi<;tol)' points more to ,111 .1Sllucytoma
th;ln a medulloblastoma. llowc\icr, an aMrorylOrna 413
 may 1Mve beell presellt asymptomatically for some
time bt:fore aCLItely presenting with a short history
of raised IeI' when the tumour reaches a critical
size. Thus .l short history per se cannot reliably
dhtingllLsh between the t\\'o.
Q2. What other conditions should be
considered?
Ataxia Gill occur following varicella infection but this
would rarely present with headaches and papilloedema.
tknign intrammial hypertension presents with headache,
raised IC!' and p.lpilloedema hut cerebellar symptoms
\\'ould be uncommon, A ccrebml abscess would be
unlikely in a previou~ly well child.
Q3. What investigations should be
arranged?
• cr head with COIllrt/SI: if ,\.\ RI is not readi Iy avai lable.
This will identify the tumour and tile presence of
any hydrocephalus and will dina\(' the urgency of
referr'll to a neurosurgical centre.
• AIR/ he,u/ami spille: MRI head morc de'lrly
delint:,Jlt:s the tut110ur thim a CT head and allows
for plann ing of surgery. As a medulloblaslOma is
the most likely diagnosis, given the history, we also
neeJ to itlldgt: the spine to look for evidence of
spinalmetastast's.
• Lumbar pUIICl1Ire: to look for evidence of
microscopic tumour cdls in CSF. This is usually
performed 2~") weeks post-operatively to allow
any cellular debris from surgery to resolve.
Even presence of microscopic disease, which is
nol visible 01) neuroirnaging. imp<ll"ts a poorer
prognosis and is therefore important staging
information to ascertain.
Q4. What are the initial aims of
management?
.. COlllrol w!>el! 10'. I{aised Icr is caused by direct
inti Itr:llion of the tumour itself or Ihe compression
of other brain structures. A rapidly growing tumour
often has signi hcallt sttrroundi ng oedema and
this may contribute to raised Icr Steroids such
as dexamcthasonc Me used to reduce oedema
and provide an improvement in symptoms.
Ilowever, raised IeI' may also be secondary
to obsti"llctioll of CSF by the tumour. Urgent
ncurosurgery may be rH1U ired for a csr diversion
procedure, e.g. extraventricular drain (EVD) or
third ventriculostomy if raised ICP persists despite
414 administration of steroids.
• Omtrol paill, .'eizure., or electrolyte di.</url!rlllces.
Seizures and electrolyte disturbances are
more common with tumours of the cerebral
hemispheres and suprasellar regions respectively.
• EsrrllJlish a tissue diagnosis In most cases attempt at
complete excision is appropriale and associated
with betler outcome. Neurosurgety should be
performed promptly but allowing for appropriate
preoperative inwstigation and stabilization.
Q5. After establishing the diagnosis, what
general management options can be
pursued?
l'he subsequent managemt'nt depends on histology
and may range (rom surveillance imaging alone ill
completely resected aslrocytoma~, to fl1rthn surgery
if there is inlelval growth or 1>ymptoms from the
tumour, and use of mdiotherapy and/or chemothempy,
Radiotherapy-based strat'-'gic~ ar" avoided in young
children, wherever possible, panicularly in those less than
3 years of age.. because of the impact on the developillg
brain. Chemotherapy regimens have a place alongside
radiolher<1py, particularly in rnedLtllobla~lOma, ;lnd
Illay be med in young children to spare toxicity of
radiotherapy, by allowing dose or fielJ reductions, or
by Jdaying or avoidi ng il ahoget her.
Presentation of malignancy
Thc list shown ill Table 51.3 i~ no! exhaltstivt:. ;\ child
presenting several times with the ~arne problem
and without a firm diagnosis should be investigated
appropriately.
Paediatric oncology
emergencies
Tumour lysis syndrome
This syndromt: (Box 51.3) i~ caused by the rapid lysis
of malignant cells on initiating chemotherapy, with
subsequent release of intracellular contents, excceding
renal excretory capacity and phy:;iologiral buffering
mechaniSIllS, and leading to risk of acme renal failure.
11 is mainly seen in 'bulky' disease such as high-
count ALL and NHL (especially B cell); it may occur
spontaneously or be precipitated by a single dose of
steroids
Prevention and close monitoring are the keys !o
managcment:
• llyperhydralion before and during initialion of
therapy (e,g. 2.5% dextrose 0.45%, sdline) with no
added pota~sium.
Table 51.3 Presentation of malignancy
Presentlng complaint
Rosptr1tory SymptOfTlS
Suspidous 'ealures and commenls
P"""!Cl'.)Igy d"e to <r.'Il'aElf'lOgIobi'l
• R€lCU'O"I 't..'>O'lllIoc:toen d..e to 10'.... ,',nre COU"-
• B'USOJ and,'Of pctcd1 00 due:o low p 'eJets
Occas l;1..e to (,1 3fJl!iCemerr 01 ~ bJ' ~ r:r 0&S5efT ~lclO fTdgnancy. ~B thaI ~
a C€ I,.es rr'(i be aqua ~ af'~ed
D.arl'etO< ~tOOIQllhan 2 em
Progrossrve cnlargement
Nonlondor rubbery nard or fv<.oo ct'\lll"octer
Supracl.1Vicular or axillary 1oc00tiOrl
Assocl3tod with other teatures, e,g ~Ior or letllargy
Hepatosplonomag:ltv
New episode or change in paltern of 'M'lOOlO
Suggesl .'9 of n'n'horacic rr.ass

• Persis:Il"': back pall1 rarer-,. innocent ... d1 Cl<en

"O::=::==== ---,"'=;"~m=1ec='=OO_=:_M::,~=':~=:"= ..
CC"C'C~'--...'th L~ a rre".astases or II <;pi1a 1""'0..-
AtlOOI'T'lc"'al'l'lBSS • Progress.." enla~
• Assoc a:iof1 'Nit't ganer<lll maIa.se, e g. l"IQT'oiastom"
~B IIt.av be p.."lIl'1 ass ana isolated "''ldir1g:.cC'C'C'C'C' _='' C'"C'' ' ':c:.:' _
=.my fT1Ol'T' "'9 neadact">e
Vorrting
Ataxia
Papilloedema
III and VI crar~al nerve palsieS (fill~9 locali71rl{j signs)
Cr3nicll r"'lOl\l(l (Ioheits
Cer"ebEllJr signs, including hlOOO tilt
Visual disnrbances or abnormal £lye m,wements
Abnom1.'ll WI"
~!otor or flAosor.,. s:g"s
8ena--oo,lI'lI ~'txh3nce
De:eroral:ng ')Cf100 pe"a'l1'ar'109 or I"""IttIOStones
roeasOQ "Q3d cir'cur'e-enco n .-fa.'"fl£
Poor leedif19 (It fa UE to lIT1.." '0 9l"lCl?Ctlalic ~
Dabe1es <15<POQus
Gre ....:h hO,"llOf1e defioeocy
PrT'.Tcociou5 P\.<bert{

BOX 51.3 Biochemical features of tumour lysis Hyperviscosity syndrome

syndrome

• Hyperkalaemia
• Hyperuflcaemla
• Hyperphosphataemia
This is ill>:.udaleJ with h igh-coUnlli?ukaemias l prcsclltill,l\
peripheral while blood count> 200 " IO?jlj, 1"',lding
10 sludwnR of WIlOUS bloud ill cerebral w"SE'ls 10
trc.lI/pn."\'Cllt rommt'nce prompt leukaemia trc.ument:
hydration, lIT,lIe oxidase and chemother.lp)'. Tr,lIl:.fuse
-
m
C)
• Hypocalcaemia
• Metabolic acidosis. if severe slowly and only if CS5Clllial for symplOlll,IIIC anaemia, :I
as this may exacerbate hnlt'rvi'>("osity_ In severe uses, -I
!eucophcrL':.i" IIlOly relieve symplOms.

• Lnsure good ren.,1 output, with furosemide if

neCCSSM)'.
• Ilrillt:' precipi',lIion: reduced with allopurinol. or
llr.lIe oxidase in high-risk cases.
• Ilyperphosphalilcllli<l/hy)lOCakaemia' incre:tse
fluid", LiSt: hilemofillr:tlion in extreme cases.
• Ilyperkalaemia: salbulamoJ. calcium R-sonium,
dcxlroSC"jinsulin, haci nofi II r<ll io n.
Superior vena cava (SVC)
obstruction
TIlis is (,ILlsee! by rm:diaslin:tl masses (Table 51.2);
airw,ly ob"'n1etion may also occur. It may prc:.elll wirh
dyspnoea, ChCSl discomfort, hoar-«:ness or cOllgh, and
findings include plClhor<l, facial swelling. engorgement 415
 of veins oflhe cheSt w,lll :1nd venous dilill:1lion of oplic
fundi ~edation or anaeslhesiil for diagnostic purposes
is haz<trduu:. <Iud cmpiricdl In:allncnl may therefore
be based on irnilging allllie.
Acute abdomen
"offi Ihe most common cause in a child with iln underlying
malignancy is neutropenic enlerocolitis or typhlitis,
~ panirularly a'"mciatt'tl with It-ukaemia, where bacterial
~ invasion of bowel wall leads to infla.mmation, full-
thicknt.~ illl.l.fction, pcrfordlion. sepsis and coagulopathy
"iii
c. \\;th high rnonalil}'. Symptoms may be masked by
'0 steroid use in All induction Management indudes
c prompt institution of antibiotics. resting of the bowel
in'o"
and do':'C monitoring with lourgical review. Most cascs
resolw with conservam.... managi"ment.
o • Cram-positive organisms may Dc from a Ole.
o
c Raised intracranial pressure
o Rai:.cd ICP is d neurosurgical emergency (p. 313).
!!igh-dose di:'xam('thasollc :.hould be commcncct1
immediatel)' to reducE" associated OffIema.
Spinal cord compression
This prescn1.5 wilh back pain, abnormal gail, sensory
loss, ilnd hlil<ldn and bowel disturbance. Causes
include neuroblastoma. c;arcoma. lymphoma and eNS
tumour:. (<llso illfc<::tion. osteomyelitis and absccss).
i\luhidi<;ciplinary inpul is Viltll; urgent .\\RI and surgical
decompression and bIopsy nmst prIT~d~ st~roids 10
avoid tumou!' lysis under ,lllaesthetic. Perform other
esscllti,d Ji,l!-\IlU:.tic prot.edurcs (e.R. lumbar puncture,
hone 1ll,lrmw I'x:l1l1ill;llioll) umkr the same anaesthetic
if possible. ·1·re<1tmenl depends on cause but may include
.~lJhSCqUl:lll slcl'OiLb. r,IJiotlH:rapy and supportive blad-
der and ])owt'! tmtnagl'nwnt.
Supportive care
All paediatric oncoloFJ' trc.lIment centrCS should h;l\'e
clcilr local guidditlC:' forsupponi\·c management, which
should he rl'ferred to for d~t,lils. 'I hi:. :.ectioll should not
be rCKarded as a substitute for such guidelines.
Infection
l'eVer should be lfealed as an emergency, as inununo-
compromised children may succumb to overwhelming
sepsis within houn.. Cre,ltest risks are associated
\\;th (QUill nadin;, usu,.lly 10 days into a course or
chemotherapy CenlT,lI wnous catheler (eVe) infection
416 should be considcrt.'d regardless or counl, panicularly
Wilh symplOtll:' sudl ,I~ rigors, i\:.sociatcd wilh line
flushing
Febrile neutropenia
r~brile neutropenia is fewr > 38 cC and a neutrophil
count <; 1.0 x 1O~/1 rt.'Sulting in inaedsed risk of
bacterial infection.
Causes of neutropenia
• ChemOlherapy
• Spinal rndiotherapy
• Bone marrow dbcdSC.
Organisms
• Skin or gut flora
• Createsl ri:.k from c,rnm-IH..1\,ltiw organisllli\,
including l'5nldmtlOlllJS
Examination
Include inspeclion of the skin. mouth. intr.wcnous
line sitcs, surgic,II :.itt.'S and perianal are,l.
Investigations
• FBC and differential. CRP
• Culture of blood, urine, '11001
• Swabs of throat, now, su~plcious skin lesions or
c€ntralline exit sites
• Plain CXR or abdominal X-ray if indicalcd by
symploms or sign!>
Management
Broad-spectrum antibiutics should be commenced
without del.1y:1s infection wilh c,r:tm negative bacilli
may be falal within hours. Choice of antibiotics witt
vary by instiluliO!l ,lt1d lural n:sisli1tHT Piltll'TnS hut
must include ildeq\\atf' cover for both Cram-neg;'llive
(including P5('lldomO'w5) and Cram-positi\'c organisms.
flt1d for 'Illacrobe.\ itl llll' preM'I1CC Qfabdominal pilin,
diarrhoea or Illltrosili'l
Viral infections in
immunocompromised patients
If there hds been vtlricdla mSlcr (VZVl COlll<ln and the
patient ilo IlOll-it1llll11tli", give prophylactic acic10vir or
zoster immune globulin. ACtin? chickenpox or shingles
should be trc,ltLxl ,lggres!>ivcly with inlr:wenmti\
aciclovir I!erpes :.ilnplex (IISV) may cause painful oral
ulceration; treat early witb acidO'o..ir. Cytomegalovirus
(C"W). adenovirus. respiratory loyllCytial virus (RSV)
and adenovirus may all caus.? pneumonitis. associ.lted
\vith high morbidil)' and monality. especially in Bh·rr
patients. Other antiviral therapy may be employed in
these C1se5
Fungal infections
Consider in prolonged febrile neutropenia and treat
promptly Clinical spectrum includes pulmonary
.1l>pcrFJllosis, hepal ie(II nl! ididSis a lid abscl""S (ormiltion_
Risk is highest during lntensiw chemotherapy. such
as re-induction for relapsed leukaemia and following
BMT. Mortality remilins high. ,,[though it L-, reducl"d by
newer ::lgellts, e.g. liposomal amphotericin. Prophylaxis
is used in high-risk treatment regimens.
Pneumocystis carinii Uiroveci/l
pneumonia (PCP)
111tl"r.>tilial pneumonitis, associated with prolonged
immunosuppression. presents with taclwpnoca, dry
cou~h and oxygen l\."quircmcllL Co-lJimoxa7.o1e pro-
I)hylaxb is USllilI for palients on chemotherapy lasting OVCI"
6 months Treatmenl in",oh-es high-dosc co-trirnoxawlc
dlld SIL'foids in severe cases.
Haematological support
I-he usual tlm:shold for hlood transfusion is 8 gldl
but teenagers are often symptomatic .It hilo\bcr levels.
CJutioll should be used i(lhere is high-count kuk<temia,
IOllg.~t<mdillg anaemia or hean failure Platelets should
be maintained abo\;(' 10 x 10"/1 if me
pdtiellt i.!> well
or 10 x lO~/l if ft..iJrilc or for minor procedures (e-g.
lumhar punaure), bUl higher for brain tumours, dfter
significam bleeds or for major surgery. Thresholds may
Vdl)' betwccn institutions and shoul<I be overridden
in tht: ~"t'lll of bruising or bleeding. I\I00d products
should be leucodepleted to reduce virdl transmission
Jnd incidence of reactions, which mil}' be tl'e:H.:d with
antihi~la1l1itH' and/or steroid. Irradiated products are
reqUired in ceTlain circumstances, such ilS following
BMT J-lId ill patients with Iludgkin's disease.
Renal toxicity
Glomemlar or tubular loxicilY may result from
chemotherapy, antibiotics and antifungals. particularly
in combination. Close attention should be paid 10
ekctrolytes, including magnesium and phosphale
11:'\"t'ls Ilypercalcaemia rarelycomplicalesdisscminaled
paediatric malignancies.
Nausea and vomiting
Chernothcrdpr variL'S ill its etnetogenicilY, from or<ll
atltil1Wlaholitt'S and vil1cri~tine requiring no prophylaxis,
10 Clspl:uin and ifosfamide requiring multiple agents.
Aim to PTC\"t'nt rather than treat $(.'\'ere ~i)'mptom~:
• Ilrsl line: domperidone or meLOciopramidc
• Second line: add in ondansctron (5-
hydroxyuyptamine (5-1 n) ,mlagonist)
• Dexamethasone: a useful ",djuna
• Cyclizine: may be panicularly useful for children
with eNS tumours
• Nabilone or chlorpromM-inc in severe cases.
Nutrition and mucositis
Good nutritional status i~ c~sellli<ll for r~owI)' from
chemolhcrnpy, ~urgel)' and radiotherapy, but is com-
promt~ed hy the pr{'S('nce of malignancy, din.-'Ct c(fcr~ of
treaunent on appetite ilnd ttl"l('. mucositis and mfection
Mucositis may be cauSlXl b)'chemotherapyor radiotherapy
and rnay cause significant pain and didnnoca. Trc.llnl<.'111
includes analgesia. often ,'\-ith opiates. good oral hygiene
and antiseptic mouthwol."hes to reduce infection.
f\.asogol_\tric or gastrostomy feeding should be clllplO)'(-oJ
early; tOl.11 p.lreillcral nuUition (TI"'I\) is used nnly when
the cnteral routc is in:ldt'<llt:lle.
l';Ible 51.4 summari7.es management of cummon
symptoms.
Palliative care
1"'•• lIialiw care is the :letive IOta I care of patiems
whu<:e di<:ease is no longer curable am.! \,ho<;(: I>rog-
nosis is Iimited_ It tIl~cds to cmbract' l>hY'llCal. emo-
tional, social and spiritual needs of children and
their familieo;
Children \"ith Cdncercoll~titl1lCthe larg~t p,Il~,h:uric
group f(.'<llliring palliatrvf' care and over one quaner
will die, mostly from progressive disease. Recognition
of the appropriate time to stop acti\'e 'nmui\'t;" treat-
mcnl is dlways diffi.ul1 Mid is compounded by
differing views of family members and profcs~innals.
Palliative treatment rudY ~till involve chemotherapy.
rtIJiuthcrapy or surgery, ,,~ these may be effecti\"£' for
symplom COnlrol_ /l.1any f.lmilies arc willing 10 ex!)lore
experimental treatmentS, a~ part of ph<lw I or II Slll-
dies. at a time when conventional lTe.ument has no
-
m
Q
mort' to offt'r Death from complications of trcatmCill
is more Itkely 10 be rapid, with limitl..x1 opportunity for
:I
preparation_ -l
In discussions with famt1i~ an honest and open
approach is essential and urdul consideralion should bI:'
giYcn to the nl..x.xls and wi~hf:'''oftlll:'child It i" impoTlam
10 t>t11!>hasi/e that the focus of treatment is dmllp,injo1, to
quality of life and symptom control. Families should bI:'
discouraged [rom keeping the truth from older children
through their desire to protect them, as this is likely to
create problems of trust '''hen the truth can no 10llger be
hidden. 417
 Table 51.4 Other common symptoms and examples of treatment
Symptoms Treatment options
NallSea, vomiting Oompendonc, c:yd'zifle (partk;ularty lor roised ICPl, levomeprornazine. ha!op€ridol
Consllpatlon laxatives when startll'lg opio1Cls
Use less constipating opiates where possible
Bowel obstruction ArltispasnllXlics, stool wftenCfS, octreotide reduces secretions and vomiting
Con\IUlsior1s, cerelxal irritation, DIazepam, midazoom
termillal restlessness
Spinol cord comfXession (lexamel!lasone, radiotherapy, bladder and bowaI management
Non-phal1l1aCOlogical measures (position, r~aXl;ltioll, play therapy, Ian), opioids, benzodiazepines,
oxygen, steroids
Excess secretions Hyoscine, gtycopyrronlum
Anxiety, depres5ion Diazepam k:lvornepromazino or amitriptylline
Cimetidine if due to disease
Antihistamine il op4O<d·induced
Haematological Anaema, huemorrhage, bruising; transfuse only for symptomaloc improvement and quality oi lite
Topjc:al tranexamic: ac:id or adrenaline (epinephrinel for trouble9OO'T1e rn..o:;osal blooding

Organization of care • Combining different agents is more effective than

Few children will h,we their pallLnin>: care coordinated
by a paediatrician specializing in palliative care. The
role of the multidisciplinaly team is vital and may
include specialist nurses, sm"ial workers, psychologists
and play therapists. with the medical lead taken by
eithcr a general or a specialisl paediatrician supponed
by the CPo Most childrm die at horne, through family
preference, but some prefer to be in a hospice and a
minority in a hospital ward selling.
@ http;/lwww.act.org.uk
ASSOCiation lor Children with Life-threatening or
Terminal Conditions (ACT)
Symptom control
Symptoms will vary according to di<lgnosis and should
be anticipated as far as possible, with the aim of
correcting underlyiug Gtu~es, such as constipation <lnd
infection. eood communiC;lIion and consideration
of psychosocial and spiritu<J1 factors will contribute
to good call1rol, which Illay include pharmacologiGlI
and l1on-pharmacologicill me:lsures. See Table 51.4 for
comlllon symptoms.
Pain
• Stepwise progression is from paracetamol and non-
steroidal drugs to opioids of increasing strength.
• Oral roUle is pn:ferred; transdcnnal route
employed for some agents.
• Subcutaneous infusion is used for the terminal
phase, often in combination with antiemetic.'>,
418 sedatives or ;mticonvulsants.
escalating dose of single one.
• Adjuvants arc <ldditional drugs used in pain
management. They include gabilpentin for
neuropathic pain. antispasmodics (hyoscine,
glycopyrroniulll), muscle relaxants (diazepam) and
steroids.
Specific malignancies
leukaemia
Leukaemia is the most common malignancy ofchildhood.
Approximately 8()<lJo of caSt'S are acute lymphoblastic
leukaemia and 20':>;" anJle myeloid kukaemia, other t}1Jes
being rare, lhe risk of developing leukaemia in I)own's
syndrome is increased 30~fold compared with the
general population.
Acute lymphoblastic leukaemia (ALL)
ALL has an annual incidence ofabout 1 in 25 ODO children,
with a peak age of 2-5 years. It result:; from malignant
proliferation of 'pre·t:\' or T-cell lymphoiJ precuThol1>.
Mature U-cell AU. is a separate entity that is treated with
more intensj\"e chcmotherapy, similar to B-cell NHL TI1C
cause of ALL is unknown, but genetic predisposition and
patterns of childhood infection may account for some
cases. Most present between 2 and 6 years of age.
Clinical features
Presental iOIl is of shorl h istolY (days/weeks) of sym p-
toms reAeoing pancytopenia, pain (bone marrow
expansion) and lymphadenopathy (Table 51.3). Clini-
cal examination should include tesles in boys.
Investigations
Ihese include bone marTOW examinallon and ~I
for CYlospin (CNS in\'okcmCllt is rare). A CXR will
exclude a cuncomitant mcdia:st..inalmaSli,
Management
TrCdl/ncnt ill\ulves remiSliion induction, consolidationf
C'l",-dire<u:d Iherapy and then prolonged mainlenance
with one or IWO intensive blocks durinf:t Ihe first year.
Induction lasts for 4 week!; as an inpatienl and
the alln I~ 10 ha,'e a morphological remis.!.ion (< 5%
blasts) when Ihe bone marrow is reassessed ilt d.l)' 28,
TIle cun'Kllidalion phase provides eNS prophylaxis
and Include" weekly doses ofinlrdthecal methotrexate.
Maintenance phase involves continuation treatment 10
d tolJI of2 or 3 years for girb or boys re~pccli\ldy. Oral
chemolherapy inc1l1dt:S daily 6-1l1ercflptopllrillt~ (6.MP)
and weekly methotrexate; doses are adjusled according
lo blood mUlIl, aillling for mild 111<1rlUW ~uppres."ioll
withollt prolonb'dl ncmropenia. I'mierlls allend for
monthly intravenous vincristine with a 5-day pulse of oral
dCX.dlllcl1lt1sonc ;Illd 3~monthly inlfill1ll..'Gllmcthotrexatc.
Intensive blocks of chemothernpy interrupt the first
year of maintenance, wilh combin:mons of oral,
inlravenous and inlrdlhC<ill chelllOlherdPY.
Prognosis
Prognosis is improving steadily and overall SUlVh'al is
....SOC.O for '>'andard-rbk patienl'> with Cllrrenl Ireal menl.
Ad'-erse prognostic indicators .1ft listed in Box 51 4.
Molecular lechniQues arc currently being dC\'Clopcd to
~"':llu,lIt" minimal residual di~St' (\I1I{D). which allows
the detection of low levels of dise.1St, undelectable by
cOIlV€'lllional morpholoro'. This may lead to slralification
of tn.:,llmclII tlccun.ling to risk
I{clap....d Al.L may be confined to hone marTOW
or involve extr,ltllooullary sites (m'linly eNS. testes).
Trt',]lIIlClll involves intcnsivc reindurtioll <lnd ronsoli-
(huion for all. with a (unher 2 y<'a~ of maintenance for
BOX 51.4 Adverse prognostic Indicators in
childhood leukaemia
• Male gender
• Age < 2 or:> 10 years
• H gh white cel count (:> 50 x 10"/1) at diagnOSIS
• Unfavourable cytogenetics:
- Philadephia chromosome: t{9:22)
- Mll. gene rearrangements' e.g.l(4:11) in infants
- AML1 amplifICation
• Poor response to induction treatment
• High levels of mln.mal residual disease at end of
induction'
· $eetelCt.
low-risk 'lIld B.'vtT for higheHisk G1~'S. Curl' rdl(~ arc
\'ariable bUI high~t in isolated elIlr:llltl'dllllary rel.lps<'
more than 2 ye.lrs off Ireatmelll.
Acute myeloid leukaemia (AML)
AMi results from lhe malignant proliferation of Ill}-doid
or non-lymphoid precursors It is '>ulxlasslfied by
morphology, according to the 'FAB' (French. American,
British) dilSliification, Mt 10 "17, each with different
behaviour and cytogenetics ravourable prognosis is
associated ''''ilh transloe,nions 1(15;17), t(8:21) and
in,,{ 16), and poor prognosis with lI1uno~ollly 7 or
cOlnplex abnormalities.
Clinical features
This is silllilar to AU .. l.ymplMlknopalhy i~ Ic~~ pro-
rninl:'lll <llld intrdthoracic and extramedull:try disease
are also less common than in ALL.
Management
rrl:'alll1l:'llt dIffers fundamelUally from that of AII~ Fouror
five courses of intensiw m~-dosupprcssivcchcmolherap~
ar(' givcn, ..... hh no prolonged nl.lintcnanC"l' Ilwrapv
High-risk Cils..'S, including lhose slo\'.' to respond, are
u.msplallled in Ihe first remission
Prognosis
Prognosi,> has impro....ed dramatically due 10 mtensi\"('
trealmtnt and supponive carl', wilh o\'Cr.l1l survival
marc than 6Ql14>. RdapltCS may be ""lv,lgcd with I~'vt I'
Lymphoma
Lymphomas arc maliRllant prolifcr"lioll.~ uflymphoid
prenll~m cdl" at various stages of differemi:nion.
Ilowever. non-Ilodgkin's lymphoma (NIlL) ,lIld
HoJRkill'~ dblC,ISC arc Ji~tincl disease t'litilit"~ alld differ in
tl:'rrm of 11mur,d hislory. presentalion and management
Hath are more common in m.lles than fem'lles.
Non-Hodgkin's lymphoma
-
m
Cl
Clinical features
:I
rresent:Ul0n vanes according to sile, including pal- -I
p.lble lymphadenopathy. pain. obstruclion or .lS("i\('S
from alxlnrninal mass, respiratory '»mptoms or SVL
obslruction from mediastinal mass, and panC}10pcnia
(Table 51.3).
Investigations
InvesT1g,ltion lllcilldes bone marrow examination,
lumbar puncture, inuging according to site, biopsy for
hislology with imrnunophcnotyping !Illtl 0'logeneli(s 419
 I h~ majority 10 childhood :tre high grade tumour~,
divided according to histology, illllllunopnenotypt'
and cytogenetics:
• 1.!'mpllObl'IWc; (<)0% ",cell, 1004" prE' H): )0%
of '1111 cases \105t present with an anterior
mc<!i:tstin.ll mass Itlhere arc> 25% bldsts in bone
~ marrow. thcn di"Cdst: is regarded as All
Cll • AlmUfe B (ell (I\urkiu's or ;}t}'pical Burkitt's):
()
<ll 50% of cases occur in the <Ibdoll1cn, head and
> ncrk, bOlle Ill(lrrow and C~S, and may grow very
~ rapidly_ Indemic or African Burkilt'~ is f1SS0ci:'lICJ
wilh carly EP~lciJl-Barr virus (LlW) infection and
iii
c. frequciltly affen~ the jaw, a site rarely im'olved in
u "poradic disease
c • AIl"pl,mif I'lf>:t' a'lf 1)'lIIpllOml/ (AI'cI.): < 20%1,
Cll
>.
8' Management
Ivmphoblasti( (I cell, pre-8 cell) lymphoma is u('att."(]
"8c similarly to its ALL counterpart", m'alllll':lH lasting up
o to 2 ycar",
Malure H cell dise.1SC and ALCl arc tr('aled with
short series of dosc-inlCllsiw chemotherapy, including
~igllifi"1I11 dme~ of alkylating "gents The risk of
tUf110ur lysis is high
Prognosis
:>.-Iore thiln 70% ()f children with NIII sUlViw owrall
,mJ ovt'r <)()O/o of cases \vith localized disease survive
with limited trealment. Relapse tends to occur early
,\Ithough the curf' rate for primary "Ill, is high, salvage
oplions are limiu!'d and few relapsed patients survi\'e.
Hodgkin's disease
Ilodgkin's disease is characterized by the presence of
neoplastic Rt.-cd-Slernl)('Tg cell., ill a re"rtive lymph node
illflltrale.lt is milch slower-growing than NllLand rare
under 5 years, incidence rising wilh <Igc. Some cases show
t.'\Iident.t: of lJH;vious LIlY infection. Ilodgkin's disease
i., classified as classical or lymphocyte-pn'dominant;
Ihe lalter usu.llly invoh'('S localized disea"e and has a
beuer prognosis,
Clinical features
l1tere is progr("i".,ive painless lymph node enlargement.
celVlcal in around S()OIb, mediastinal (oflellasylnptomatic)
in 60%. DisscmilldtiOll to other organ'> ocnlB lale. h?VE'r,
IlIght '>wl':al'> and weigh I loss constitute 'B' symptoms,
which are more common in ad\'allct."t! sldges.
Ann Arbor staging
Stage I Sill!iJe sile
St<lgc II :> I .,itt' of disease, on one side of the
420 diaphragm
Stage III :> I "Ill' of disease, on both side:s of the
diaphragm
Stage IV Disscminalt.x1 diSt---:l.M:.
Investigations
11lt:~1':
Me as for '\JIll, withoUl lumbar punClllfC but
mcluding EBV serology.
Management
Stage I disease may be cured with either involwxl field
radiotherapy or tI SllUrl cuulse ofchelnolher.1py. All other
sta~t.~ require chemotherapy, which usually includes
significant doses of anthracyclincs and/m 'llkylatillg
agents. The additional use of radiothernpy is subject
to national and institutional \'dnation, but is usually
cmployal in bulky mediastinal and disseminated
disease, as well as in resblillll or relap'ied cases, when
further intensive chemotherapy is also indicated.
Prognosis
Overall survival at 5 years excceds 9()01o, ranging from
70% for stage IV to 97% for stage l.
l.<lte effl':cts remain a significant COllCCfIl, as both
radiotherapy and the chemOlhcrapy regimens carry
risks (p. 407).11H.~ role offunctional imaging with rl:T
scans shows protl1i~€ in Ilodgkin's disea~c and may
help to identify good-risk dist'asc requiring less toxic
Ire.ltment.
CNStumours
Rmin tumours arl': Ihe most common ~olid tumours,
as they constitule 25% of childhood malignancies,
but they represenl a wide spectrum of histological
subtypes with widely different features, managelllclll
and olllcome:
• lnfratentorialtulllours predominate (> 50%),
usually associated with raised Icr, hC<1J<1chcs,
vomiting and cerebellar ataxia.
• Supratcntori<lllUIllOUrs present with r,lised Icr
and/or focal signs according to site, hypothalamic/
(limitary dysfunction or visual impairment
• Primary spinal tumollrs are \'('ry rare and
are managed similarly to their intracranial
counterpan.s; they rna)' present with (urd
compression (p. 416).
• eNS meta'>ta~ of t'Xlr.1cranial tumours arc filrc in
children,
Delay ill diagnosis is common, as few cases present
cl .. s~ically. lur every childhood brain tUlllour there are
around 5000 children wilh llligrilinc.
hwolvcment of the ftlultidiSt.iplinary team is Q?ntrallo
Illdnaj;,'Clllcnt a lid :ohmlId involve neurosurgoons, paediatric
oncologists. radiotherapists and cndoail1ologiM_"
Initial management
• Di'lgnostic imaging' CI' provides essenlial
informalion for emergency managemellt of
hydrocephalus MRI provides bcucr tumour
Jdinition wmhim:d with spinal imaging for
Magmg
• 1t.1ised ICI' requires prompt managcmelll,
pMticularly if on..,e1 i.., rapid: prompl referrdl
and Irilnsfer 1O;l p;lediatric neurosurgicdl unit,
using dexamethasone to camrol oedema. and
i11lClISivc carl' IJ n il (I Col J )/venti l::llion in severe
rases
• Initial surgery may involve CSF diversion only
(Illin.! "entriculostorn}' ur extcrnal ventricular drain
Itl rdic\-e hydrocephalus), or biopsy or complete
reseelion. deJl('nding on location and likely
diaF,llOsis.
• Oiller inve,>tigations may include CSF cytology and
tumour markers.
• Postoperative S«Ul wilhin 48 hou~ of surgery
il\'oids confounding anefaci from post-surgic.ll
change (haematOm'l/ocdema).
Low-grade glioma (-45%)
Most have histological characlCristics uf piltX)'tir astro-
cyhllnd (gr.u.lc I) and behave in an indolent fashion, with
v:l riable responses to lreatment. Outcome depends on si Ie.
with cerebellar tumours usually cured by surgery alone
lInrese<Ublf> cases Ihat progress or are S}mptomatic,
such as optic pathway or hypothalamic gliomas with
dicnc(.'phalic syndrome or thrt-'lI1 to \li~IOn, are tre:lIOO
wilh chelllOlhernpy. It1(hothempy may be employed in
older children, excf'J)1 in :-.IF-I-associated C.ISCS ("'50%),
in which the risks of S<."Colld primal)' IUITlOIJTS and
cCI'ebrovascular complications are increased.
High-grade glioma (-10%)
Ihese may be World Ilealth Organization gmde III or
IV, They occur prcdominamly in older rhildren and
tel:'ll:lgo:TS, ami supratentori<ll sites predomin.ltc. They
are lI~llally incompletely resectable and cure is rarely
.lchie\'cd. RadiOlhcrapy is the treatment of choice but
rC'il'nnsl'S <Ire rarely sustained and chemolherapy is of
hmltpd benefit-
Brainstem glioma 5%) « childhood malignancic:.. It hilS iI medidll agl" of onst't
Illlfill~ic pontinf> gliomas are usually diagnosed on
charaeteristic MRI appearances alone. 'n1q' are high-
gr,ldc and il}opcmb1c. all(\ 1111:.'ir rc:sponSf> to radiotherapy
is \'ariable and shon-lived ChemOlhef:lpy has f,liled to
improve median surviv:ll of < I year. Tumours ~rowing
out\\I.lrds from tin: urJimleltl (exophYlic) may be low-
grade ,md amenable to biopsy wilh Ic:ss morbidity, and
have d helter Olllcome
Primitive neuroectodennaJ tumours (PNETs)
(-25%)
111is is IIIP most common group of m.lligJldllt brain
tumours of childhood, \\lith peak incidenct> at 'i }'f'ars
The majority occur in the cerd>ellllm (whf>re Ihey arc
ca.lk-d ml-dulloblaslOllla), and present with raised
r(:1' and alaxia. Supr.ltenlorial PNLl's, including
pineoblastomas, have a wo~c progno'>ls Cl'll'-bome
lllclaSl.ISl~ orcur in 10-15% of cases. I'.xCh,iOll ,lilt!
cr::lniospin,ll radiother;II)' form the hiiSb of lrt',11ment,
but chemotherapy providt's further benefit. About 70%
of loc;lli~t'd cases are cured but long·lerm morhidil}"
from radiotherapy is significant. particularly in young
patients.
Ependymoma (-10%)
EpendYlIlomas usually anst' in and around Ih(.' \'Cn·
lrid", with presenting fC.1tur..-..s according to sill" of
ori~n but usually induding oh"'ructiw hydrocephalus
Completc surgical ~>:cision confers the best OUlcomc
(> 70% survival, compared with < 50% for thow in
whom complete sUlgicdl eJlrisiol1 i~ not p0o;sible) and
involvcd field radiolhcrnpy i~ dwn given. ChemOlhef3py
ll1ily dtday or occasionally remove th..: l1e..:.1 for
radiolherapy in younger p,llients.
Craniopharyngioma (5-10%)
Crtllliopharyngioma i~ a ,>Iow-growing midline bcnip,n
epithelial rumOIlT that arises in the suprasdlM ,Irea
from remnants of Rathke':. !lOuch. Tre:lImem invoh1'.'S
complete rt'SCCtion in 80% and p.ani.1I rescetion with
focal radiolherapy in the rcmaindt-"f. M.IIMb'i."Il1CIll
of complications of tile dbea'l(' and lb lTe.1Imf>nt
- induding damagtC 10 lhe- hypothalamus. vision and
beha\'iuur - rt:milins Ihe ~reatesl dlaJlcngc, p.lltiruliHly
ilS most become long term sUtvivors.
eNS germ cell tumours (5%)
-'0& 111(':'1:.' are descri~d on Ihe tdastcrCoursc wd>:>ite.
Neuroblastoma
-
m
C)
N"eurobl"slomil is a mahgnant embryonal tumour
:I
derived from the neural crcsi and represents 7~() of -I
of 2 years with the maJorilY of cases arisinR in thc
adrenal glands, abdomen or thorax. usually l'e1ated
to the sympathetic chain, Small numbers occur in the
pelvis, neck and clsewhere. Di'>ease is often adv.lIlced
al diagnosis with metastases to Donc, bUill' rmll 1'0\\1,
liver. and occasionally eNS <lnd lungs. 111{'re io; a wide
spectrum of behaviour according to age of patient and
discase '>t<lge. 421
 Clinical features
I'rc'>t'rHatiotl i" oftt:n non-spt:cific, dt:pt':nding on "ite,
"[Head and metabolic efleCls·
• LymphJ.denop:l1hy or palpable masses
• Compl'ession of slructUl"I.-'S, including nervcs (e.g.
Horner"', spin<tl cord), airway. veins. howel
~ • I'.mcytopenia
<0
() • Bone p.1in, limp
• \weating. p,lllor, wawry diarrhoea and hypenension.
~ • Cytogenetic abnormalities: MYCN amplification,
~ Investigations
iii Specific di.lgnoslic teslS include.
c. • Imilging of .iffc("ICd arca for ..taging I)urposcs (er
"0 or \IRI)
C
<0 • Urine \MA/IIVA creatinine ratios (urine
>. cdtcrhul,Ullilli..'S); r,li"i..'d in> SM-O ca<>es and may ~
OJ u'it"d for monitonng of disease progress
o predisposition (p. 404).
(5 • 'I mlllG uptake by primary tumour and
() IIICtdsldSl."S, in the IIl<1jorily; if ncgativt' for primary,
C
o """Ic bone M:<l.n IS required
• Bilaleral bone marrow aspirates/trephine; {disease
infiltration liMy be p'llchy)
• Biopsy of It"iion
• CytOgenetic analysis of biopsy, bonc marrow and
blood.
Management
Trc;llmelll rnngcs flOm SlIrgCly only for resmable localized
bUbO(' I) rWllrohlaslnlll<l to induction chemotherapy,
surgery; high dose chemotherapy with autologous stem
cdl rescue .tntl r,idiothempy in stagc 4 (di~emimlled) and
MY(,N-posili~.,SI:lb't-' ,,\ (1i~'<lSt".
Infant neurobl."\StOlllil charaCteristically presents with
dissemin.ltoo disc.lse restricted to bone llIarrow, liver <lnd
~kill (~t,IIo\C 4S), which lI~lIally rl,:>olvt:S spontaneously;
cht'tnntlll'r,lpy i~ only required for life-threatening
~ymptoms.
Prognosis
Disseminated neurobLlstoma is only cured in 20-30%,
dl:.'!ipile irncn"iw lrt',lllllt'lll Slirvivill in low-stilge c<lses
in infants is more than 90%. Adverse proF;nostic
indiGliors Me listed in Box 51.5.
Wilms' tumour
Wilms' tUllluur, or nt'phrohlaSIOTlla, is an embryonal
tumour of the kidney accounting for 6% of childhood
mali~n.1ncics. Around 75% of caSCi occur in patients
Il.-"S" than 4 yt:aT~,
Clinical features
Prl.-'Selltdtioll is Illost cOllllllonly as a \'isiblc or palpable
422 mass, oflen p<tinl€'>S, in <I well child. Ilaemamria and
BOX 51,S Adverse prognostIc Indicators in
neuroblastoma
• Age> 1 year
• Stages 3 and 4
• Raised tumour marl<:ers: ferritin, lactate
dehydrogenase (lOH), neuron-specific enolase
INSE)
• Unfavourable histology
17q 9a n, lp loss
h}1>enension are found in one-Ihird. Mmltumours dre
localized at didgllo"is bUI lung metastases may occur
Bil<lter.l.1 {slage 5) disease accounts for 10% of CiiSCS
and is Tllore likely to be .lSSOCi,IICd with an inheriltxl
Investigations
These include:
• Abdomin<llullrasoulld
• cr scan of abdomen
• CXR or cr chest
• Urine ciltcrhol,lIl1incs 10 exclude neuroblastoma
(prior to <In:teslhellc)
• rull blood count ,lnd coa~ulalion studiL"S (a
transiclll acquired \'on Willehrand-like syndrome
is recogni;<..ed in 1% of cases)
• Biopsy.
Management
Definitive surgery usually follows a short cour~ of
chemotherapy. Subsequent trcatment depcncb on Sl<lgc
and histology, r,lJ1ging frorn a short wurst' ofvincristine
10 6 JIIonths of three- or four-dnrg anthracyclinc·
hast'd chemotherapy. Itldiothcmpy is required for
incompletely rest.:rll'd di~t:<ls{, and most cases with
lung lllt!asl,tses. In hil:tteral disease (stage V), the ilil11
is lO maximize response 10 chel110therapy prior to
pcrforrnirl~ I1cphron-spMing surgery to avoid the need
for dio:tlysis.
Prognosis
O\'C'rall survival ranges from .... 70<>;0 for ~Iage IV disease
to> 95% in "Iagl' I. Follow-up should include regular
CXR as well as abdominal ultrilsouml, as pulmonary
relapsc is 1lI0rc com mOIl Iho:tn loe:tl recurrence
Other renal IIlmour; are rare in childhood. ,,,tcso-
blastic nephroma occurs in infants <lnd mOSl else-; eln
be cured with surgery ,llone. CleM cdl sarCOTll<l requires
more intcnsi~'C treatment than \-Vilms' tumour, and
nldlignant rhabdoid IUmour carries a "ely lX)()r
prognosis.
 Osteosarcoma and Ewing's childhood malignancies. Most Cil:;\:.,:,> o<cur hefore the
sarcoma age of 10 years dnd are sporadic.

Hone tumours are rare in childhood.•lCcounting for

Clinical features
4% of all p.lediatric malignancil..'S.
Incidence increases with agt'. Ill.-aking in teenage
In is depends on site, mostly bl"clda, pelVIS, naso-
pharynx. par<llllcningeal or paralestlS, ,\od m,ly include
YI..'aTl> and {,ilTly <l<luhhood. 'I"he majority of C.lSCS are
p<llp<lblf' mas~, pdin or bladder outflo\\ ub~lrunion
OSteos...u(ama or Lwingssarcoma. histologirdllydistinci
.\·Ietastases .1TC uncommon.
and ""ith differing pal1erns of disease and response to
IrCJlmt'nl !"lUI with m.:my common fculUrcs. All cases
~hollrd be referred to a specialist bone tumour (cnlre Investigations
for surgic.ll 1113lMgCtnel1l. Diagnosis and stdging involve:
• Illl'lging of primM)'" ultrasound, folJo\'...:d by
Clinical features staging CI or I\'IRI
This is with p.lin, swelling, IMlholngiral fracture, and • Biopsy: for h btology and 11101enl br cytOgenetic
mrdY(lVt'rl}'ingerylhema. OsteosarCOma occurs mostly all,llysi~. J\lwolar RMS is associated with ,1d\'f:I'~f:
in long bones Jnd around the kncl.: in 80%. 111 Ewing's prognosis and is charactcril:cJ by lilt: prt'~t·nCt· (If
the ,lxi,ll (eemT"I) lokdcloll is involvt:(1 more oflen and t(2; 13) or t( 1.13), which produce fllsion product~
lhe pdvi.\ il> the most common site. DeJay in diagnosis of PAX and j-KI m genes
is a (ommon feature. Metastases arc morc (UlIlmon <11 • Bone marrow examination
diagnosis in Ewing's (25%) than oSlemarcoma (10%), • Uone scan
ilnd ill lungs more commonly than bone. with bOlle • Lumbar puncture for paramenill~cal Ji~d~.
marrow met,\Stilses in Ewing's only.
Management
Investigations
TrCatmclll invoh-t"i 6-') COUfS/?S of combin,lIiOll chcmo,
Diagllostic in\.l'Sligations include~
th"rapy. Some cases achieve complete rt'lIIi~..i(Jn \\ilh
• Plain X.rays of bon)' lesion
chemotherap}' alone. Surgery for arc~~lhle Sites (pard
• ~IRI of primary site to define e"lent of tumour and test.icular, I>criphcral) <XTIIT5 after three or six COUfSCS
did surgical pldnning
of rhemotherap}' RJ.diotherapy is abo rt'i.luifft! In r.1o;;e<\
• Dpfiniti\."e diagnosis requires biops}'. which should with residual dht.'<I5e dml for alwobr hlslOlogy.
be carried out at a specialisl cemre where definitive
sur~l'ry will be performed
• CI chf'~t Prognosis
• Isotope bone scan 'nlis dep"ll(l~ 011 risk faCIOrs and r,1nRcs frulll Mound
• Rone Illdrrow a~pirates ,md trephines (hil:tlf'ral): 10% for nony metastdtic discilse to ovt:r 71)O/u for
I.wing'i> ollly complelely excised Pilfillcslicliiar tUIllOUrs with favour-
able histology. Illt: outcome for metasl:ltic rd,lpse ,mel
Management locill reolrrena within a previom r,ldioIlHT<l)lY lidd is
Surgery. with the ,'i rn of limb prei>crvatioll, is preceded extremely poor.
and followed by cheJl]uther"py ill all C,1<;e~. Prostheses
dfe dt:signed to allow lengtheninR as lhe patic'lt grows.
~adiother.\py is all effective adjunct and alternative
to surge'y. pMticularly in axial I·wing's. Out its role in
ostl'O~"'-C(J"'a i<; rt'~lricted mainly to palli,ltion.
Rare tumours
Many other forms of c.1.nccr occur ill children but all
-
m
C)
arc very ran.:. TI1l.1' indllde~ J:
Prognosis Germ cell tumours
Relinoblastoma
3% of childhood Cilncer~
3% of fhildhood c.mcers
-I
Overall sur·;i\·al for both groups is around 61)o1i>, but
ddversc oUllook is associated with large primanes, axial uwr lUl1lour~ 1% of childhood cancers
Sill':>. poor rt'SpOIl"t: 10 pl'E''Operative chemotherdpy and Hisliocytosls 1;200 000 children
met,,~t.,tic disease Chronic myeloid Very rart' in childhood
leukaemia
Juvcnile m}'elomonocytic Very rare ill d,ildhood
Rhabdomyosarcoma leukaemia
RhilbdullI)"osarcoma (R:vIS) is the most common 50ft SOIlIt' of Ihese Me deS("ribed in more detail on
tissue <;,1Tcoma in childhood and rcprc~cllts 6% of the ''''':l5terCourse \\'ebsitc. 423