1.

Growth and Puberty

Normal growth
• Can be divided into 2 phases:
o Pre-natal/ foetal growth:
▪ Maternal factors most important
o Postnatal growth:
▪ Infantile (birth → 2 yrs). Decelerating growth rate. Dependent on nutrition, insulin and
thyroxine.
▪ Childhood: slow steady growth velocity. Dependent on GH and thyroxine.
▪ Puberty: dependent on GH and sex hormones (testosterone/ oestrogen).

• Recording growth:
o UK-WHO growth charts for children aged 0-4.
▪ Ethno-specific growth charts
• Tall = Dutch, Afro-Caribbean Height/ weight/ OFC
• Short = Gujurati, Urdu, Punjabi should not be further than
o On the growth chart, plot: 2 centile marks apart, i.e.
▪ Head circumference: 9th/ 25th/ 50th/ 75th.
• OFC (occipital-frontal circumference)
• 33-35cm at birth
• 1cm/ month for first year.
▪ Length/ height:
• Height at birth + 2cm a month
• 0-2yo: lying naked infant with head and feet held
• Head → HEEL.
• >2yo: wall mounted stadometer. Shoes and socks off. Eyes at ear level.
▪ Weight:
• Naked on scales
• Normal = 3.5kg at term
• <2.5kg = low birth weight
o <1.5kg = very low
o <1kg = extremely low
• Small for gestational age = <10th centile.
o Weight gain:
▪ Normal to lose <10% of weight in 2 weeks after birth.
▪ X2 at 6mo; x3 at year.
▪ Normal rates of weight gain:
• 1st 3 mo: 30g/ day
• 3-6 mo: 20g/day
• 6-12 mo: 15g/ day
o BEWARE of centile crossing: can indicate pathology
▪ E.g. head circumference → hydrocephalus?

o Plotting preterm infants:

▪ Use a separate low birth-weight chart for <32 weeks
▪ Pre-term section only has charts for WEIGHT and OFC.
▪ Use preterm sections of WHO chart for <37 weeks (≤36)
• Use up until EDD + 2 weeks
▪ >42 weeks, plot on with gestational correction (also do this if they are pre-term):
• Draw dot on actual age in weeks
• Then draw arrow backwards/ forwards to how old they should be.
• Continue gestational correction until:
o 1 year if 32-36
o 2 years if <32
• Correction is made around 40 weeks, i.e. if born at 34 weeks, draw back 6
weeks.
Plotting pre-term infants
Transfer preterm to infancy section

Must use DOTS to

plot on growth chart.

Born 6 weeks preterm

Failure to thrive/ faltering growth Then plot on infancy section
Plot on preterm section of
• Mostly due to under-nutrition using gestational correction
chart until 42 weeks (EDD+2)
• Can also be due to feeding behaviour ± organic disease:
o If they continue along the same centile, probably just small
o If falling centile → refer.
• Separate growth charts for:
o Down’s
o Turner’s
o Achondroplasia.

Organic causes of faltering growth

Inadequate food • Breast feeding – inadequate supply, poor technique Same as IDA
intake • Formula feeding – milk too dilute
• Anorexia – from chronic illness
• Unable to feed – cleft palate, cerebral palsy
• Vomiting- GORD
• Neglect/ abuse
Malabsorption • Coeliac disease
• Cystic fibrosis
• Short gut (post-op)
• Cow’s milk protein allergy
• Parasites
• Cholestasis/ biliary atresia
retention • Diarrhoea
• DM
Increased energy • Chronic illness:
requirements o CF, Congenital heart disease, chronic renal
failure
o Hyperthyroidism
o Malignancy
o Eczema

Growth predictions
• Mid-parental centile comparator:
o Can use special chart where you mark the mother’s on one side, and the father’s on the other,
and draw a line between. Mid parental percentile = where it crosses the line in the middle.
o Most children are ±2 centiles of mid-parental centile.
• Mid-parental height:
o Boys: [Mother’s height + father’s height]/2 +6.5cm
o Girls: [Mother’s height + father’s height]/2 -6.5cm
• Target range = MPH ± 10cm.
SHORT STATURE
• = height <3rd percentile. (MU-PLOVIDV <2nd percentile) ≤2nd percentile = -2SD
• Correct for height using MPH. ≥98th percentile = +2SD
• Causes:
o Familial
o Constitutional delay in growth and puberty
o Psychological neglect (→GH)
o IUGR Short stature is NOT
o Other endocrine: associated with
▪ Hypothyroidism prematurity.
▪ Cushing’s
▪ GH deficiency: bitemporal homonymous hemianopia. DO insulin tolerance test: should
cause a rise.
• At birth → neonatal hypoglycaemia + jaundice
• Doll-like face.
• Grow normally for first 12 months
• MARKEDLY REDUCED BONE AGE
o Dysmorphic syndromes:
▪ Turner’s
▪ Noonan
▪ Down’s
o Coeliac
o Chronic renal failure
o Chronic inflammatory disease:
▪ IBD
▪ Rheumatic disease
o Other chronic disease:
▪ Asthma
▪ HF
o Skeletal dysplasia:
▪ Achondroplasia (AD dwarfism)
▪ Hypochondroplasia
o Metabolic disease:
▪ X-linked hypophosphataemic rickets
o Malnutrition.
• Ix:
o U&E
o FBC and CRP For GH:
o Calcium and phosphate - Initial scree: IGF-1 (will be low)
o Karyotype - Then do insulin tolerance test,
o TFTs measuring GH and IGF-1 after 2h.
o Serum IGF-1
o Coeliac Ab screen
o Urinalysis.

TALL STATURE
• Height >97th percentile
• Majority = inherited.
• Other causes:
o Early puberty
o Obesity
o Endocrine disorders:
▪ Precocious puberty
▪ GH excess
▪ Pituitary adenoma
▪ Androgen excess
▪ CAH
▪ Hyperthyroidism
▪ Aromatise enzyme deficiency
 ▪ Oestrogen receptor defects
▪ Primary hyperinsulinaemia
o Kleinefelters (XXY)
o Marfan’s
o Homocysteinuria
o Soto syndrome: large head, characteristic facies and LD
o Beckwith-Wiedemann syndrome
o Maternal DM
• Ix:
o Karyotype
o TFTs
o Serum IGF-1
o Sex hormones/ LH/ FSH
o Androgen levels
o OGTT → test GH levels (should be suppressed).
• Mx: low dose sex steroids can be given to fuse growth plates, but usually avoided as major SEs.

ABNORMAL HEAD GROWTH

• Posterior fontanelle closed at 8 weeks
• Anterior closed at 12 – 18 mo.
• 33-35cm at birth; 1cm/ month for first year.
• Microcephaly:
o = head circumference ≤2nd percentile.
o Causes:
▪ Familial
▪ If with developmental delay → Patau (trisomy 13)
▪ Congenital infection
▪ Insult to developing brain, e.g. cerebral hypoxia (accompanied by cerebral palsy)
▪ Craniosynostosis: one or more sutures fuses prematurely.
• Foetal alcohol syndrome:
o Short palpebral fissure
o Hypoplastic upper lip
o Absent philtrum
o Small eyes
o IQ
o Cardiac malformations
• Macrocephaly:
o OFC ≥98th percentile
o Causes:
▪ Tall stature
▪ Familial
macrocephaly
▪ ICP → MRI/ CT
▪ Hydrocephalus
▪ Subdural haematoma
▪ Cerebral tumour
▪ NF
▪ Cerebral gigantism (Soto syndrome – also tall stature)
• Plagiocephaly:
o Wonky head
o in incidence due to sleeping babies on their back to SIDS
o Can also indicate neglect/ baby left alone for long period of time
o Improves by age 3-5
o Advise to turn cot around; give time on front in day.

• Findings AT BIRTH:
o Caput seccadenium: normal. Crosses suture lines.
o Chignon: from ventouse
o Cephalohaematoma: does not cross suture lines.
OBESITY
• Overweight = BMI ≥85th percentile (BMI >25)
• Obese = BMI ≥95th percentile (BMI >30)
• Exogenous causes rare: Hypothyroid, Cushings & Prader-Willi
• Associated with: Asian, female, tall children.
• Complications:
• Ortho: SUFE/ tibia vara/ abnormal foot structure & function
• Benign intra-cranial HTN
• Hypoventilation syndrome: daytime somnolence; sleep apnea; snoring; hypercapnia; HF
• Gall bladder disease
• PCOS/ DM2/ HTN
• Psychological sequelae
• Mx:
• Lifestyle changes
• Healthy eating/ exercise/ ↓periods of inactivity
• Success enhanced with family support.

BMI centiles: where weight and height centiles cross, follow line up.

Teeth
Formula for approximately how
many teeth they might have:
Age in months - 6

Define growth Increase in dimensions, body weight and proportions.

Phases of normal 1. Fetal
growth • Fastest period of growth - accounts for 30% of height
• Size at birth is determined by the size of the mother and by placental nutrient supply.
• Low birthweight increases the later metabolic risk of childhood obesity.
2. Infantile phase
• Rapid but decelerating growth rate and accounts for about 15% of eventual height.
3. Childhood phase
• Slow, steady but prolonged phase that contributes to 40% of final height.
• Pituitary growth hormone is the main determinant of a child's rate of growth,
provided there is adequate nutrition and good health. Thyroid hormone, vitamin D
and steroids also affect cartilage cell division and bone formation.
4. Puberty growth spurt
• Sex hormones, mainly testosterone and estradiol, cause the back to lengthen and
boost GH secretion. This adds 15% to final height. The same sex steroids cause
Factors that affect• Intrinsic
growth • Hormones
• Insulin - main regulator of metabolism, regulates fats and proteins
• Thyroid hormones after birth
• Growth hormones
• Steroid hormones
• Extrinsic
• Food and nutrition
 • Diseases which may interfere with growth
Normal Values • Height (48-52cm)
• Should gain 2cm in a month
• So 25 cm per year
• 75cm at one year
• Growth slows down to 7cm a year
• Problems
o Intrauterine growth retardation
o Congenital infection
o Feral alcohol syndrome
• If child is treated with corticosteroids they will be taller for their age but final height
will be less
• Thalassemia patients are shorter
o Iron overload due to blood transfusions
o Endocrine glands differ
o Heart and liver impairments
o They have diabetes
o Would need hormonal replacement therapy
o Chelating agent to take out excess iron
• Causes of short stature
o Genetic or delayed bone age
o Endocrine disorders
• GH deficiency
• Glucocorticoid excess
• Diabetes mellitus
• Vitamin D resistant rickets
o Skeletal dysplasia - osteogenesis imperfecta, achondroplasia
o Lysosomal storage diseases - mucopolysaccharidosis
o Syndromes of short stature
• Turner syndrome
• Noonan syndrome
• Autosomal trisomy 13,18,21
• Prader-Willi syndrome
• Weight
• Normal - 2.5-4.5 kg
• Can be more in mothers who are diabetic
o Due to increased insulin which can increase GH
• After first week they will loose fluids (7%)
• Head circumference
• 34-35 cm
• Grows 1cm a month
• Essential to measure in 1st year as
o Slow growth (microcephaly)
o Fast growth (hydrocephalus)
• Chest circumference
• 33-35cm
Puberty in In Boys • In Girls
pediatrics • Grow taller • Breasts develop
• Oily skin - pimples • Hips get wider
• Voice gets deeper • Menstruation starts
• Facial hair • Sexual feelings/thoughts
• Pubic hair • Mood swings
• Broader shoulder • Wants more independence
• Pollutions • Grow taller
• Penis/Testes get bigger
• Pubic hair
• Sexual thoughts • Concerned about looks
• Concerned about looks
• Start ovulation

Early puberty • Thelarche - Breast budding under the areola

changes • Adrenarche or pubarche - pubertal fine straight pubic hair over the mons pubis.
Growth spurt in • The peak growth spurt usually occurs approx. 1 year after thelarche.
girls • Females grow 5-7cm/year during growth spurt and only 2-5cm in height after menarche
Menarche • Is a relatively late pubertal event
• 12.9 years average
Growth spurt in • Is a relatively late event
boys • Occurs from 10.5 - 16 years
Body composition• In females, fat deposition begins sooner and remains
changes • In males it begins later and then is lost
Psychological and • Intellectual ability
behavioral changes• Preference of abstraction
• Increased capacity for making judgments
• Interest in sexual activity
• Sexual orientation
• Gender identity
Hormonal • The hypothalamus is responsible for the initiation of puberty
• GnRH (Gonadotropin releasing hormone)
• FSH and LH -> gonadal sex steroids
• Targets of testosterone, Estrogen include
o Genitourinary ducts
o Hair follicles
o Apocrine glands
o Fat and muscle cells
o Bones
o Brain
o Growth spurt
• ACTH -> DHEA and DHEAS (dehydroepiandrosterone)
• Secretion of DHEA and DHEAS leads to pubic and axillary hair
• Thelarche is also dependent on adrenarche-adrenal androgens are converted to
estrogens
• Increased androgens lead to
• Appearance of pubic and axillary hair
• Darkening of hair
• Maturation od sweat and apocrine glands
• Acne
• Deeping of the voice
• Higher hematocrit values
Precocious puberty
• Sexual development occurring before the age of
• 9 Years in boys
• 7 or 8 Years in girls (more common in girls)
o The earlier before the age of 12 that a girl starts her menstruation cycle the
higher risk for breast cancer.
• Signs
o The kids do not achieve their full height
o Girls can become more emotional, moody and irritable at a younger age
o Boys can become more aggressive and develop a sex drive that is very
inappropriate for their young age
• Classification
o Central precocious puberty - premature activation of the hypothalamic-pituitary-
gonadal axis (GnRH-dependent)
o Peripheral - Hypothalamic-pituitary-gonadal axis is not involved (Gn-RH-
independent)
o Isosexual
o Heterosexual
o Complete
o Incomplete
• Causes
o Idiopathic
o CNS tumors (hamartoma)
o Other CNS disorders
• Evaluation of sexual precocity
o Determine by physical examination whether only estrogen effects or only
androgen effects or both are present
o Androgen effect in both boys and girls as
• Adult odor
• Pubic and axillary hair
• Facial skin oiliness
• Acne
o Estrogen effect manifests as
• Breast development
• Uterine increase
• Eventually menarche
o Determine by physical examination whether the testes are enlarged more than
2.5cm in length
• If the testes are not enlarged, but virilization is progressing, the source of the
androgens may be the adrenal glands or exogenous sources
• If the testes are slightly enlarged, but not consistent with the stage pf pubertal
development, ectopic production of HCG or familial leydig and germ cell
maturation may be the cause.
o Laboratory examination
• Sex steroids (testosterone, estradiol, DHEA)
• Baseline gonadotropins (FSH,LH)
• Thyroid hormone
• MRI of the CNS
o Tx
• Analogues of GnRH - suppresses gonadotropin secretion by down-regulating
GnRH receptors in the pituitary gonadotropes.
• Ketoconazole - inhibitor od testosterone synthesis
• Hormone secreting tumor - surgical removal

Gynecomastia • Breast tissue sin male

• In 45-75% of normal pubertal boys
• Androgens normally are converted to estrogen by aromatization in early puberty
• Can suggest possibility of klinefelter syndrome
Delayed puberty • Puberty may be delayed when there is no sign of pubertal development by
 • 13 years in girls
• 14 years in boys
• Causes
• Constitutional delay in growth and puberty
• Hypogonadotropic hypogonadism
o Fail to experience the accelerated growth characteristic of the normal growth
spurt in puberty
• Hypergonadotropic hypogonadism
o Klinefelter syndrome in males
o Turner syndrome in females
• Eugonadism
• Tx
• Replacement with sex steroids is indicated
• Adequate calcium intake - decreased bone density
• In turner syndrome - promoting growth with exogenous human GH supplementation;
induction of the secondary sexual characteristics
2. Normal Child Development

- 4 major areas:
o Gross motor
o Fine motor/ vision Screening
o Speech (language and hearing) - Newborn check
o Social (emotional and behavioural). - Newborn hearing
- Isolated delay = 1 of these domains. - 6 week check
- Global delay = ≥2. - Parental concerns.
- Biological RFs:
o Prematurity
o Low birth weight (<2.5kg)
o Birth asphyxia
o Chronic illness
o Visual/ hearing impairment
- Environmental RFs: poverty/ low parental education/ parental mental illness/ social isolation.

- N.B. bladder and bowel training during day should be by about 3yo.

- General red flags (at any age):

o Regression/ loss of a previously developed skill
▪ Caused by neurometabolic disorders, due to the accumulation of toxic substances.
o Poor interaction with others
o Difference in strength between sides of the body
o Abnormal tone
o Strong parental concern.

1. GROSS MOTOR DEVELOPMENT

Age Milestone RED FLAGS → REFER

Newborn Symmetrical movement in all
4 limbs
6 weeks Lifts head on lying on front Excessive head lag
Moves from side to side
6 months Rolls
Sits up with support
7-8 mo Sits without support
9 months Pulls up to stand Not sitting by 9 mo
8-10 months Crawling/ bum shuffling/
commando crawling
12 months 50% can walk; walk holding
furniture
18 months Kicking a ball Not walking by 18 mo
2 years Runs
3 yrs Jump, tricycle
5 years Skip, catch ball, heel to toe
walking, climb stairs like
adult
 • Primitive reflexes (disappear 4-6 months):
o Lost as the pyramidal tracts become myelinated.
o Moro reflex: sudden head extension (i.e. sudden loss of support) → symmetrical extension of
limbs followed by flexion.
▪ Lose at 4mo
o Grasp reflex:
▪ Lose 4-5mo
o Rooting: head turns towards object placed near mouth
▪ Lose around 4mo
o Stepping: if foot is placed on a surface, will step on it followed by an up step with other foot
▪ Lose around 2mo.
o Asymmetric tonic neck reflex: lying supine, if head is turned a ‘fencing posture’ is adopted
(outstretched arm on the side the head is turned).

- DELAY IN WALKING:
o Should walk by 18 months.
o Causes:
▪ Cerebral palsy
▪ Duchenne muscular dystrophy (X-linked)
▪ Congenital myopathy
▪ Spinal cord lesion, e.g. spina bifida
▪ Global neurodevelopmental delay
▪ Congenital dislocation of the hip.
o Bum shuffling is a normal variant to crawling; genetically linked.

2. FINE MOTOR/ VISION

- Fine motor skills depend on good vision.
- N.B. many children have an intermittent squint (cock-eyed) in the first few weeks of life. Refer if:
o Fixed
o Persists beyond 8 week check.
- Children <18mo should NOT have a hand preference (normally develops by 2 yo).
o Presence may indicate spastic hemiplegia cerebral palsy.

Age Milestone RED FLAGS → REFER

Newborn Fix and follow near face/ light Does not fix and follow by
3 mo
6 weeks Turn head through 90o Squint still present at 8
weeks.
3-4 months Hand regard (look at hands a
lot)
Reach for objects
6 months Palmar grasp
Transfers objects between
hands
10 months Pincer grip
12 months Points with finger No pincer grip by 12
Looks at pictures months
Persistent of hand regard
18 months Scribbles
3 brick tower
2 years 6 brick tower
Recognise parent across a
room (2-5yo)
Draw /
3 yrs Build bridge
Draw O
4 years Build steps
Draw X
5 years Draw Δ
3. HEARING AND SPEECH
Age Milestone RED FLAGS → REFER
Newborn Quietens to voices
Startles to loud noises
6 months Babbles, coos, laughs
10 months Mama or dada
Responds when called
12 months 2 -10 words other words No 2 syllable babble.
Responds to own name
18 months Vocab of 10 words with No words at 18mo
meaning
Head nodding/ shaking Persistent drooling
2 years Phrases
Name body parts
Follows command, e.g. put
brick in cup
3-4 yrs Talks constantly in 3-4 word Speech remains
sentences unintelligible at 4 years

- Causes of speech delay:

o MOST COMMON = global delay
o Hearing impairment:
▪ Chronic otitis media with effusion (glue ear)
o Environment: lack of stimulus
o Psychiatric, e.g. autism (NOT Asperger’s)
o Familial
o Bilingual household.

4. SOCIAL, EMOTIONAL AND BEHAVIOURAL

Age Milestone RED FLAGS → REFER
6 weeks Smiles No smile by 6 weeks
3 months Laughs
6 months Food in mouth with hand
10 months → Friday the Waves goodbye
10th= new scary movie! Scared of strangers
18 months Spoon and bowl to eat Play: explorative
24 months Play NEXT to other children → functional →
Personification of toys symbolic →
36 months Potty trained in day time imaginative
Social interactions with other
children

CAUSES OF GLOBAL DEVELOPMENTAL DELAY (delay in ≥2 areas)

Type Causes
Perinatal • Hypoxic-Ischaemic
• Intracranial haemorrhage
• Teratogens
• Periventricular leukomalacia (→ spastic diplegia
cerebral palsy)
Metabolic • Hypothyroidism
• Inborn errors of metabolism (PKU) Neuro
• Hypoglycaemia G
• Hyperbilirubinaemia (kernicterus) I
Infection • Meningitis M
• Encephalitis P
Genetic • Chromosome disorders (Down’s, fragile X)
• Duchenne muscular dystrophy
Neurodegenerative • Tay-Sachs syndrome
disease • Adrenoleucodystrophy
3. CHILD MORTALITY
CHILDHOOD PERIODS:
- Intrauterine development - Post-neonatal/ Infant: 28 days -1 year
o Embryonic period: 0-3months - Toddler: 1 to 3 years
o Foetal period: 3months → delivery - Pre-schooler: 3 to 6 years
- Neonatal = 0-28 days - School-ager: 6 to 10 years
o Early neonatal: 0-6 days - Prepubertal: 10 to 13 years
o Late neonatal: 7-27days - Adolescent: 13 to 18+ years

MORTALITY is the occurrence of death in a population

- Children’s Mortality = No. of deaths in the year/ No. of newborns in the year x100
A child’s mortality depends on:
1. Weight at birth: < 2.5kg - 20 times higher
2. Gender – male 15-20%
3. Mother’s age– < 18 or > 35
4. Mothers country of birth
5. Place of living – village/city
6. Inter-genetic interval – <2 yrs
7. Socio-economic status (single parent, poor, hygiene, far from Dr)
8. Congenital diseases

RISK FACTORS
- Use of drugs, alcohol, cigarettes
- Previous pregnancy
o Still birth, neonatal death, premature, congenital malformations, neonatal jaundice,
- Current pregnancy
o Bleeding, STD, preeclampsia, poly/oligohydramnios, acute illness, genetic disease, twins
- Delivery
o Premature, late, nuchal cord, caesarean section, forceps use, etc.

DISTRIBUTION
- Countries with the LOWEST child mortality rate:
1. Luxemburg, Sweden, Japan, Finland
2. EU, Israel, USA, Canada, Australia, NZ
- Countries with the HIGHEST child mortality rate
o Africa and South Asia

RATES
- 0-1yrs have the highest mortality rates, then 1-4, 5-9, 10-14yrs
- Child mortality has been reducing worldwide for 100yrs
- Neonatal causes
o Premature birth
o Infections
- Infant causes
o Premature, anoxia, neonatal diseases
o Malformations
o Respiratory infections→ Pneumonia
- 1-4yrs causes
o Congenital
o Infectious disease
o Cancer
- 1-14yrs causes
o Accidents, poisoning
o Respiratory infections
o Cancer
o Neuro disorder
4. NUTRIITION
- Initiate breast feeding within 1st hour after birth
o Newborns drink 60-90ml/ feeding milk over 6-9 feeds/24hrs
▪ Most infants will wake for a middle-of-the-night feeding until 3–6 wk of age
o After a week – 3months ~150ml/kg/24h (30ml=1oZ) over 4-6 feeds
- Exclusive breast feeding is recommended until the infant is 6 months of age
o On-demand feeds are recommended
- 7–12 months needs an average volume of human milk plus the average amount of complementary foods
- Milk secretion is stimulated by regular emptying of breast
- 0-6months infant requires more protein per unit of body weight than the adult → ~1.5 g/kg/24 hr
- Human milk protein and all proteins used in infant formulas contain adequate amounts of all essential
amino acids
ELECTROLYTES, MINERALS AND VIATMINS
- Healthy newborn infants typically have sufficient stores of iron for 4–6 months
o These stores and the absorption of iron is variable → iron deficiency is common during infancy
- If protein intake is adequate, vitamin deficiencies are rare
- If infant formulas were not supplemented with vitamin D → hypovitaminosis D
- Routine perinatal administration of vitamin K is recommended as prophylaxis against haemorrhagic
disease of the newborn → Vit K deficiency is uncommon unless child is receiving prolonged antibiotics
and those with conditions associated with fat malabsorption
- WATER → absolute requirement is ~150ml (newborn) - 100ml (1yr old) /kg/24 hr
ADVANTAGES OF BREASTMILK
- Always at right temperature
- Requires no preparation time
- Fresh and free of contaminating bacteria → GI disturbances
-  feeding difficulties related to allergy/ intolerance
- Contains bacterial and viral antibodies, including IgA (protects the intestinal mucosa from pathogens)
- Macrophages in milk synthesize complement, lysozyme, and lactoferrin
o Lactoferrin – iron-binding protein that has an inhibitory effect on growth of E.coli in intestines
- Lowers pH of stool → aids favourable intestinal flora → helps protect against infections
- Contains bile salt-stimulated lipase → kills Giardia lamblia and Entamoeba histolytica
- Psychologic advantages of breast-feeding for both mother and infant → bonding
- Helps uterus return to its normal size sooner and help mother return to pre-pregnancy weight sooner
** Main benefits for infant: obesity/ T2DM, SIDS, Chest infection/gastroenteritis, Allergies
** Main benefits for mother: breast/ ovarian cancer and PPH
DISADVANTAGES OF BREASTMILK
- Lower vitamin D
- Low iron content but most healthy term infants have sufficient stores and breast milk is well absorbed
- Low vitamin K → haemorrhagic disease → Parenteral administration of 1 mg Vit K1 at birth
- Transmission of HIV by infected mothers
- Transfer of Cytomegalovirus (CMV), Human T-cell lymphotropic virus type 1, Rubella virus, Hepatitis B
virus (mostly transmitted through delivery, immunization needed in 1st 24hrs), and Herpes simplex
virus (avoid if lesions on nipple)
CONTRAINDICATIONS OF BREAST-FEEDING
- HIV+ve mothers, Active TB, Typhoid fever,
Malaria, Septicemia
- Breast cancer
- Mastitis
- Acute maternal infection → breast may be
emptied and milk given to infant via bottle
- Substance abuse and severe neuroses/
psychoses
- Infants with galactosemia and
phenylketonuria
- Amiodarone, Anti-metabolites, Thyroxine,
Opiates
BREAST FEEDING TECHNIQUE
CHIN:
o Close to mother, chin to breast first
o Head free to tilt back
o In line
o Nose to nipple
- Positive signs: Mouth wide open, No pain, Rhythmic sucks, sleeps 2–4 hr between feedings, gains weight
** Can assess intake by weight gain, urine/ stool output, and condition of nipple
PHYSIOLOGY: Stimulation of lactation
- Prolactin (anterior pituitary) → stimulates milk secretion by cuboidal cells in acini or alveoli of breast
- Oxytocin (posterior pituitary) → contraction of the myoepithelial cells surrounding the alveoli deep in
the breast → squeezes milk into the larger ducts, where it is more easily available to the sucking infant
ADVICE
- Infants can empty a breast in 5-20min
- Infant should not be pulled from the breast
- Afterwards place infant over shoulder or on her lap, with or without gentle rubbing or patting of the
back to assist in expelling swallowed air/ burping
- Infant should empty at least 1 breast at each feeding; otherwise, the breast will not be stimulated
sufficiently to refill
- Both breasts should be used at each feeding during the early weeks to encourage maximal milk
production
PROBLEMS
- Breast engorgement – better technique & regular expressing breast milk
- Breast abscess – advise to continue feeding if possible + flucloxacillin ± surgery (drainage)
- Sore nipples: optimize attachment & moist wound healing not by resting except in emergency
- If entirely breast fed, give vit A, C, D supplements from 6 months, + eat 500kCal extra
DRUGS OK IN BREAST FEEDING: APE AHEAD
- Asthma: salbutamol, theophyllines
- Psychiatric drugs: TCAs, antipsychotics** (Avoid clozapine)
- Endocrine: glucocorticoids (avoid high doses), avoid levothyroxine*
- Antibiotics: penicillins, cephalosporins, trimethoprim
- Hypertension: beta-blockers, hydralazine, methyldopa
- Epilepsy: sodium valproate, carbamazepine
- Anticoagulants: warfarin, heparin
- Digoxin
DRUGS TO BE AVOIDED IN BREAST FEEDING: PACT SAC (make a pact to your sac not to take these drugs)
- Psychiatric drugs: SC lithium, benzodiazepines
- Amiodarone
- Carbimazole/ cytotoxics
- Tetracyclines/ doxycycline
- Sulphonylureas, sulphonamides
- Aspirin
- Ciprofloxacin, chloramphenicol

PREMATURITY
- Breast milk best, give unheated via a tube, add vit D & K ± phosphate
o Term babies also at risk of rickets/ hypocalcaemia if exclusively breastfed so use vit supplements
BOTTLE FEEDING
- Cross cut teats – more content than standard teats
- Standard infant formulas: humanized cow’s milk – whey based protein
- Follow-on formula milk (6-24mo) – casein-based protein component – delays stomach emptying and
allows less frequent feeds
- Soya milks – no longer recommended, contain high levels phyto-oestrogens – may affect immunity/
thyroid & hormones especially in boys
- Quanitiy during 1st week = (x-1)х70 daily → (x= no. days post partum); or 800 ml daily at 2 months,
for every week below this age – 50 ml less, for every month above this age 50 ml more
** Hydrolyzed formula: Cows milk formula where protein is hydrolyzed into short peptides. Normal for stool to
turn green → Indications = cow’s milk allergy
WEANING
- Intro solids at 4-6months → puree
- Solid foods from 6months
o Vegetable puree – 4 months
o Vegatable-meat puree and eggs’ yolk – 6 months
o Soup – 7 months
- Avoid foods with high allergenic potential (cow's milk, eggs, fish, nuts, soybeans)
- Avoid honey until 1 year → risk of infantile botulism
- At the proper age, encourage a cup rather than a bottle
- Introduce 1 food at a time
- Iron-containing foods (meat, iron-supplemented cereals) are required
- Zinc intake should be encouraged with foods such as meat, dairy products, wheat, and rice
- Breast milk should continue to 12 months
- Reducing milk production:
o Use of a tight breast binder and application of ice bags
o Restriction of the mother's fluid intake and small doses of oestrogen for 1–2 days also may help
decrease milk production

FEEDING PROBLEMS DURING THE 1ST YEAR OF LIFE

UNDERFEEDING.
- Constipation,
- Failure to sleep, irritability, excessive crying
- Weight gain may be slow, or possibly weight loss
- Skin becomes dry and wrinkled, subcutaneous tissue disappears, and the infant assumes the
appearance of an “old man”
- Deficiencies of vitamins A, B, C, and D as well as of iron and protein
OVERFEEDING
- Regurgitation and vomiting (most frequent symptoms)
- Delayed gastric emptying → abdominal distention and discomfort
- Excessive weight gain.
- Diets too high in carbohydrate → undue fermentation in intestine → distention and flatulence
5. WEIGHT FALTERING AND MALNUTRITION
WEIGHT FALTERING (WF)
- Growth is determined by plotting periodic measurements of weight, length or height, and head
circumference, using the WHO growth charts for boys or girls e.g. weighed = 1st, 8th, 12th, 16th wks + 1yr
- WF is the suboptimal weight gain in infants/ small children, assessed by a sustained drop down of two
centile spaces on the growth chart
- Weight faltering is a description NOT a diagnosis
- If prolonged and severe, it will result in reduction in height/ length (stunting) and head growth and
may be associated with delayed development
- Healthy children’s weight will fluctuate, but usually progress at one centile space; however, a baby
born large at weight will often cross down centiles, whilst one born underweight will go up
- Any child whose weight crosses two centile lines or is below the 0.4th centile or has a body mass
index (BMI) less than the second centile should be evaluated
CAUSES
- Most often is due to inadequate intake/ under-nutrition, but the cause for this is often multifactorial
CLINICAL FEATURES AND INVESTIGATION
- If weight faltering is confirmed, a dietary history should be taken to include:
o History of milk feeding
o Age at weaning
o Range and type of foods eaten
o Mealtime routine and eating/ feeding behaviours → take a 3-day food diary
▪ If possible, observe a meal being taken
- Consider also:
o If the child was born preterm or had IUGR
o The energy levels of the child and any other Sx such as diarrhoea, vomiting, lethargy, etc.
o Whether the child’s development is normal
o Growth of other members in the family or any illnesses they may have
o Are there any psychosocial problems at home?
- Examination should focus on identifying signs of organic disease such as
o Dysmorphic features
o Signs suggestive of malabsorption (distended abdomen, thin buttocks, misery)
o Signs suggestive of chronic respiratory disease or heart failure
o Signs of nutritional deficiencies (koilonychia, angular stomatitis)
o INVESTIGATIONS:

MANAGEMENT
- Mealtime observations and food diaries
- Health visitors to assess and support families to improve feeding and increase calorie intake
- Paediatric dietician to recommend food and strategies
- Key outcome → rise up weight centiles; usually begins 4 weeks to 8 weeks after intervention
- Severe cases require hospital admission

MALNUTRITION
- Worldwide is responsible for 1/3rd of all deaths of children under 5 years
- Is often a consequence of war and social disruption, famine and natural disasters
- In developed countries → results from poverty, parental neglect or poor education, restrictive
diets, and in children with feeding disorders, chronic illness, or anorexia nervosa
ASSESSMENTS
- Evaluation involves:
o Assessment of past and present dietary intake → recorded by parents over several days
o Anthropometry
o Laboratory assessments
 - Skinfold thickness from triceps reflects subcutaneous fat stores and can be measured with calipers
- In children from 6 months to 5 years → MUAC →relates to skeletal muscle mass

CONSEQUENCES OF MALNUTRITION → multisystem disorder

- Impaired immunity, delayed wound healing and operative morbidity and mortality increased
- Worsens the outcome of illness
- Less active and more apathetic
- Permanent delay in intellectual development

SEVERE MALNUTRITION
- Is a major problem in many low and middle-income countries
- Severe protein-calorie malnutrition is classified as:
o Marasmus
o Kwashiorkor
o Marasmickwashiorkor
MARASMUS
- Child has a wasted, wizened appearance, Oedema is NOT present
- Affected children are often withdrawn and apathetic
KWASHIORKOR
- Generalized oedema as well as severe wasting
o Because of the oedema, the weight may not be as severely reduced as in marasmus
o In addition, there may be sparse and depigmented hair, skin rash, angular stomatitis, distended
abdomen, enlarged liver (fatty infiltration), and diarrhoea
- It is unclear why some children with protein-energy malnutrition develop kwashiorkor and others
develop marasmus
SEVERE ACUTE MALNUTRITION
- Severe acute malnutrition is defined as the presence of any of the following:
o Weigh- height → more than 3 standard deviations below the median on the standard WHO
growth chart
o MUAC < 115 mm in children 6 months – 5 years old
o Bilateral oedema
MANAGEMENT
- Most children with severe acute malnutrition have an appetite, are alert and can be managed within
community by ready-to-use therapeutic food (RUTF) → mix of peanut butter, milk, vitamins,
minerals, etc.
- Children with no appetite, severe oedema, a medical complication or are less than 6 months old have
complicated severe acute malnutrition and require hospital in-patient care
o In addition to protein and energy deficiency, there is electrolyte and mineral deficiency
(potassium, zinc and magnesium) as well as micronutrient and vitamin deficiency (Vit A)
- Children with long-term disorders who are malnourished will grow better if given supplemental
nutritional support, which may be provided by the enteral or parenteral route
- ENTERAL N → used when GI tract is functioning; feeds are given nasogastrically, by gastrostomy or
occasionally via a feeding tube in the jejunum (e.g. if there are problems with vomiting)
o If long-term, gastrostomy is preferred as prevents constant replacing of NG tube
- PARENTAL N → Energy is given as glucose together with a fat emulsion (usually derived from soya
bean oil, sometimes combined with fish oil, medium chain triglycerides and olive oil), whereas
nitrogen is supplied as synthetic amino acids in a combination resembling egg protein. Electrolytes
and a full range of vitamins, micronutrients, and trace elements are also given
o Common reasons for long-term PN → short bowel syndrome (e.g. major loss of bowel from
complicated gastroschisis, or a volvulus), enteropathies (often with onset of severe diarrhoea
in very early life), or a motility disorder such as long-segment Hirschsprung disease
WHO 10 STEPS FOR ACUTE MANAGEMENT:
- STABILIZATION → Treat Hypoglycaemia (1), Hypothermia (2), Dehydration (avoid fluid overload →
HF) (3), correct Electrolyte imbalances (4), treat Infections (broad spectrum antibiotics- fever and
other signs maybe absent) (5), correct Micronutrient deficiencies (6), Initiate feeding (small
frequent volumes) (7)
- REHABILITATION → Achieve catch-up growth (8), provide Sensory stimulation and emotion
support (9), provide follow-up after recovery (10)
 BMI = Kg / (m)2
6. OBESITY 18.5 → Underweight
- Is the most common nutritional disorder affecting children and 18.5–24.9 →Normal weight
adolescents in high-income countries and is rapidly becoming a major 25–29.9 →Overweight
problem in low and middle-income countries as well 30–34.9 →Obese
- Overweight is a BMI >91st centile, and Obese is a BMI >98th centile 35–39.9 →Moderately obese
- Has important short and long-term complications; and these people 40–49.9 →Morbid obesity
are likely to be obese as adults ≥50 →Super morbid obesity
COMPLICATIONS
o Orthopaedic – slipped upper femoral epiphysis, tibia vara (bowlegs), abnormal foot structure
and function
o Idiopathic intracranial hypertension (headaches, blurred optic disc margins)
o Hypoventilation syndrome (daytime somnolence, sleep apnoea, snoring, hypercapnia, heart
failure)
o Non-alcoholic fatty liver disease
o Gall bladder disease/gallstones
o Polycystic ovarian syndrome
o Type 2 diabetes mellitus ; Hypertension ; Abnormal blood lipids
o Other medical sequelae, e.g. asthma, changes in left ventricular mass, increased risk of certain
malignancies (endometrial, breast, and colon cancer)
o Psychological sequelae – low self-esteem, teasing, depression
ETIOLOGY
- Dysregulation of caloric intake and energy expenditure; involving both genetics and environment
- EXOGENOUS CAUSES
o Increased prevalence is due to changes in behaviour relating to diet and physical activity
o Energy-dense foods are widely consumed, including high-fat fast foods and processed foods
o More time is spent with video games, mobiles and TV
▪ Reduction in time spent in front of screens is most effective factor for prevention
o Children from low socioeconomic homes are more likely to be obese
- ENDOGENOUS CAUSES → rare
o Overnutrition accelerates linear growth and puberty → therefore they are relatively tall and
will usually be above the 50th centile for height
o If child is obese and SHORT → look for endogenous cause, i.e. hypothyroidism and Cushing
syndrome
o If obese and with learning disabilities or who are dysmorphic → an underlying syndrome
may be present
▪ Most common of these is Prader–Willi (obesity, hyperphagia, poor linear growth,
dysmorphic facial features, hypotonia, and undescended testes in males
o If severely obese children > 3 years → gene defects, e.g. leptin deficiency, are possible causes
** First predictor of overweight is high birthweight, probably linked to maternal obesity or maternal diabetes
** Paradoxically, lower birthweight appears to place people at risk for later central obesity
*** Children who are overweight are more likely to be over weight as adults
Tx
- Unless there is an endogenous cause or complication, most obese children can be managed in primary
care
- Weight maintenance is a more realistic goal than weight reduction and will result in a demonstrable
fall in BMI on their centile chart as height increases
- Successful management requires sustained changes in lifestyle, with healthier eating, increased
physical activity and reduction in physical inactivity (i.e. decreased TV time)
- Drug treatment can be used in children >12 years who have extreme obesity (BMI > 40 kg/ m2) or
have a BMI over 35 kg/m2 and complications of obesity
o Orlistat → lipase inhibitor which reduces the absorption of dietary fat and thus produces
steatorrhoea
▪ It should not be used for children under 12 years, but may be indicated if there are
comorbidities (e.g. orthopaedic, sleep apnoea) or severe psychological disturbance
- Bariatric surgery → laparoscopic adjustable gastric banding → not considered in children or young
people unless they have almost achieved maturity, have very severe or extreme obesity with
complications, e.g. type 2 diabetes or hypertension and all other interventions have failed
Leptin deficiency child!
7. VITAMIN D DEFICIENCY

- Vitamin D is derived from two main sources:

o Synthesis in the skin (D3) following exposure to ultraviolet light
o Diet (D2 or D3)
- Its functions are
o Regulation of calcium and phosphate metabolism → essential for bone health
o Regulation of the immune system→ Prevents autoimmune diseases
- Inadequate amounts in childhood → rickets; adults → osteomalacia
o Vit D deficiency usually presents with bony deformity and classical picture of rickets
o It can also present without bone abnormalities but with symptoms of hypocalcaemia, e.g.
seizures, neuromuscular irritability →tetany, apnoea, stridor, and cardiomyopathy
▪ More common <2 years of age and adolescence, when a high demand for Ca2+ in
rapidly growing bone results in hypocalcaemia before rickets develops

PATHOGENESIS
- Deficiency results from inadequate UVB exposure, deficient intake or defective metabolism → low
serum Ca2+ → secretion of parathyroid hormone → normalizes serum Ca2+ but demineralizes the bone
Parathyroid hormone causes renal losses of phosphate and consequently low serum phosphate levels,
further reducing the potential for bone calcification.
RICKETS
- Inadequate mineralisation of bones before growth plates have fused
o Osteomalacia = after growth plated have fused
- vitamin D → calcium and phosphate → 2o hyperparathyroidism
- Food sources: oily fish, liver, egg yolks, fortified margarine, cereal

RISK FACTORS:
o Dark skin living in UK
o sunlight/ intake
o Premature babies (vit D stores build up in womb)
o Drug induced, e.g. phenytoin
o Genetic disorders, e.g. hypophosphataemic rickets (kidneys and bone deal abnormally with
phosphate)
CLINICAL FEATURES
o EARLIEST SIGN → a sensation similar to pressing a ping-pong ball elicited by pressing firmly
over the occipital or posterior parietal bones (cranio- tabes)
o Wrists (especially in crawling infants) and ankles (in walking infants) may be widened
o Severe: signs of hypocalcaemia, e.g. seizures, spasm/ tetany
o Bony deformity: bowed legs, prominent costochondral joints (rachitic rosary), soft skull,
easily fractured
o Harrison’s sulcus → indentation of softened lower ribcage at site of attachment of diaphragm
o Reluctant to weight bear: waddling gait
o Impaired growth, poor weight gain
o respiratory infections due to rachitic lung (expansion and muscular weakness), rachitic
rosary
Dx
o 1,25-dihydroxyvitamin D assay
o plasma calcium and phosphate / alkaline phosphatase and PTH
o Wrist X-ray (required for diagnosis):
▪ Osteopenia/ widening
▪ Cupping and fraying of metaphyses

Fraying occurs at
the METAPHYSIS
(growth plate).

Tx
o Education: dietary advice and referral to dietician
o Sunlight exposure
o Calciferol PO (ergocalciferol/ cholecalciferol) – vitamin D
o Monitor Vit D/ cholecalciferol/ PTH 3-4 monthly

- Vitamin D supplementation should be given to:

o Pregnant and breastfeeding
o Children 6 months to 5 years
o >65 years and little exposure to the sun
8. NEONATAL JAUNDICE
- One of the most common conditions occurring in newborn infants (50%) and is characterized by
elevated levels of bilirubin → total serum bilirubin concentration > 5 mg/dL
- Neonatal jaundice is important as it:
o May be a sign of another disorder
o Unconjugated bilirubin can be deposited in the brain (basal ganglia) causing kernicterus
- Neonatal jaundice can be classified into 3 main forms:
1. OCCURING WITHIN <24 HRS OF LIFE: PATHOLOGICAL
o Can be conjugated or unconjugated and is typically a symptom of an underlying disease
▪ Peak total serum bilirubin can rise > 15 mg/dL
▪ Daily rise in bilirubin levels > 5 mg/dL/day
o CAUSES:
1. Sepsis or Infection from mother genital tract/ amniotic fluid (TORCH)
2. Haemolytic disease of the newborn (unconjugated hyperbilirubinemia)
a. ABO incompatibility
b. Rhesus incompatibility
3. RBC structural defects: Hereditary spherocytosis
4. G6PD Deficiency – mainly affects males
5. Maternal drugs: sulphonamides, nitrofurantoin
6. Gilbert’s syndrome → Inherited, liver cannot process Br properly
2. OCCURING AFTER 24 HRS – 14 DAYS: PHYSIOLOGICAL
o Usually arises on 3rd day and resolves by 8th
o Is due to a combination of:
1. Increased bilirubin production in neonates due to shorter RBC lifespan (70 days)
▪ During first 3 months HbF is replaced by adult hemoglobin (HbA) → bilirubin
levels rise and Hb levels drop to 10–13 g/dL
2. Decreased bilirubin conjugation (metabolism) due to hepatic immaturity
▪ There is a downregulation of the enzyme that converts unconjugated →
conjugated while in utero, as unconjugated needs to cross placenta to prevent
accumulation in foetus
3. Absence of gut flora impedes elimination of bile pigment
▪ Low concentration of bacteria → less bilirubin is reduced to urobilin and excreted
→ unconjugated bilirubin is reabsorbed and recycled into the circulation
o ALWAYS causes unconjugated hyperbilirubinemia
▪ Peak total serum bilirubin: < 15 mg/dL
▪ Daily rise in bilirubin levels < 5 mg/dL/day
o The process can be exacerbated by: polycythaemia; extravasated blood; delayed passage of
meconium; swallowed blood; hypocaloric food intake; dehydration; breastfeeding; prematurity
o SUBTYPE: BREASTFEEDING JAUNDICE
• Insufficient breast milk intake → lack of calories and inadequate quantities of
bowel movements to remove bilirubin → enterohepatic circulation →
reabsorption of bilirubin from intestines → unconjugated hyperbilirubinemia
• Usually arise within 1 week
• Tx: Increase breastfeeding sessions, rehydration
3. PROLONGED JAUNDICE: >14 DAYS (>21 DAYS in PRETERM)
o All require investigation for conjugated hyperbilirubinaemia → if present, further
specialised Ix will be required
o Requires immediate investigation
o UNCONJUGATED hyperbilirubinemia causes:
1. Breast milk jaundice (most common cause) – disappears after 4 – 5 weeks
2. Infection- particularly of the urinary tract
3. Congenital hypothyroidism – look for other features: coarse facies, dry skin,
hypotonia and constipation
o CONJUGATED hyperbilirubinemia is suggested by dark urine, unpigmented pale stools,
hepatomegaly and poor weight gain → requires immediate referral for liver investigation
o Causes
1. Biliary atresia – requires early Dx and surgical intervention
2. Neonatal hepatitis syndrome
EFFECTS OF UNTREATED JAUNDICE
KERNICTERUS
- A life-threatening encephalopathy resulting from the deposition of unconjugated bilirubin in the
basal ganglia and brainstem nuclei
o Unconjugated bilirubin is insoluble in water but soluble in lipids. It’s carried in blood bound
to albumin. When albumin binding is saturated, free unconjugated bilirubin can cross the BBB
- Acute manifestations: lethargy and poor feeding
o In severe cases: irritability, opisthotonos, seizures and coma
- Infants who survive may develop athetoid movements, choreoathetoid cerebral palsy (due to
damage to basal ganglia), learning difficulties and sensorineural deafness

Dx
- Physiological neonatal jaundice is a diagnosis of exclusion → laboratory tests should first rule out all
pathological causes of neonatal jaundice
1. Physical examination for icterus → all neonates should be assessed very ~8-12 hours
2. Bilirubin tests → should be performed in neonates with signs of jaundice
a. Transcutaneous bilirubin measurement (TcB)
i. device that measures the degree of yellow discoloration in the skin with a light signal
b. Serum bilirubin measurement
i. Measured if transcutaneous bilirubin measurement yields a high value or if jaundice
arises within the first 24 hours of life
1. Total serum bilirubin (TSB) measured
2. Differentiation of direct (conjugated) and indirect (unconjugated) bilirubin
3. Other laboratory tests
a. Complete blood count (including reticulocyte count)
b. Blood grouping Red flags:
c. Direct and indirect Coombs' test (Rh incompatibility) - <24h/ >14 days
d. Markers of inflammation - Rapidly rising serum
e. Liver enzymes bilirubin (>100um/L/24h)
i. Increase in the levels of AST, ALT, alkaline phosphatase - Fails to respond to
(ALP), or γ-GT may indicate an underlying hepatic phototherapy
disease (e.g., hepatitis). - Jaundice in sick neonate
f. Total serum protein and serum albumin - Pale stools and dark urine
i. Total protein and albumin levels in serum provide (i.e. conjugated)
information about the nutritional status of a neonate
g. fT4 (free T4)
i. To rule out central hypothyroidism in the case of prolonged neonatal jaundice
h. G6PD activity (in the case of G6PD deficiency)

Tx
- Bilirubin chart: plot a concentration vs age chart to dictate
treatment:
o Different charts are used for each different gestational age
- If under 1st line and –ve tests → supportive Tx
- 1st line: PHOTOTHERAPY:
o Baby subjected to certain light wavelengths which
convert non-conjugated bilirubin → soluble isomer →
this bilirubin levels
- 2nd line: EXCHANGE TRANSFUSION:
o Required if the bilirubin rises to levels that are considered potentially dangerous
o Replace baby’s blood with warm blood 2x through umbilical venous catheter entry) paired with
an arterial line (removal) → to ensure volume balance
o Complications: HR, apnoea, platelets/ glucose/ Na+/ Hb/ O2 sats
- IVIg can also be used in jaundice caused by ABO/ Rhesus incompatibility (i.e. haemolytic disease of the
newborn)
o Acts as a competitive inhibitor to auto-Abs
9. Congenital Newborn Infections

- Congenital infections are caused by pathogens transmitted from mother to the embryo/fetus/newborn
either during pregnancy (transplacentally) or delivery (peripartum) → Vertical transmission
- Vertically transmitted infections that are capable of significantly influencing fetal and neonatal
morbidity and mortality
o Generally, the earlier TORCH infection occurs during pregnancy, the more severe complications
- The acronym TORCH stands for the causative pathogens of congenital infections:
o Toxoplasma gondii
o Others (including Treponema pallidum, Listeria, Varicella, and Parvovirus B19)
o Rubella virus
o Cytomegalovirus (CMV)
o Herpes simplex virus (HSV)
- Primary prevention includes:
o Vaccination for varicella and rubella (prior to pregnancy)
o Hygiene measures (washing hands and avoiding certain foods)
o Screening for syphilis during pregnancy, etc.
- Several other pathogens can also be vertically transmitted during pregnancy and have detrimental
effects on the fetus and/or newborn. These include:
o HIV in pregnancy
o West Nile virus
o Perinatal hepatitis B
o Adenovirus
o Group B Streptococci
o Measles virus
o E. coli
o Enterovirus
o Gonococcal infections
o Zika virus
o Chlamydial infections

CONGENITAL TOXOPLASMOSIS
- Pathogen: Toxoplasma gondii(parasite)→ Asymptomatic in healthy individuals but pregnancy and
immunocompromised are at risk!
- Transmission:
o To Mother from:
▪ Cat faeces ** 4Cs:
▪ Raw or insufficiently cooked meat - Cerebral Calcifications
▪ Unpasteurized milk (especially goat milk) - Chorioretinitis
o To foetus → transplacental transmission - HydroCephalus
- Clinical features: - Convulsions
o Classic triad
▪ Chorioretinitis
▪ Hydrocephalus
▪ Intracranial calcifications (ring-enhancing lesions)
o Petechiae and purpura (blueberry muffin rash)
- Sequelae of congenital toxoplasmosis
o Epilepsy
o Intellectual disability
o Visual disabilities (chorioretinitis → increased risk of retinal lesions, cataracts, and glaucoma)
- Dx
o Foetus: PCR for T. gondii DNA in amniotic fluid
o Newborn
▪ CT/MRI: intracranial calcifications, hydrocephalus, ring-enhancing lesions
▪ T. gondii-specific IgM antibodies (CSF, serum)
▪ PCR for T. gondii DNA (CSF, serum)
- Tx
o Pyrimethamine, sulfadiazine, and folinic acid
- Prevention
o Avoidance of uncooked meat
o Avoidance of handling cat faeces
o Spiramycin → prevention of foetal toxoplasmosis in acute maternal toxoplasmosis infection
CONGENITAL SYPHILIS
- Pathogen: Treponema pallidum
- Transmission ** Hutchinson triad:
o Foetus: Transplacental transmission from infected mother Interstitial keratitis,
o Neonate: Perinatal transmission during birth Sensorineural hearing loss,
- Clinical features Hutchinson teeth
o EARLY congenital syphilis
▪ Onset < 2 years of age
• The majority of newborns with congenital syphilis are asymptomatic at birth
and go on to develop symptoms in the first few months following birth
▪ Hepatomegaly and jaundice
▪ Rhinorrhea with white or bloody nasal discharge (which contains spirochetes)
▪ Maculopapular rash on palms and soles
▪ Skeletal abnormalities (e.g., metaphyseal dystrophy, periostitis)
▪ Generalized non-tender lymphadenopathy
o LATE congenital syphilis
▪ Onset > 2 years of age
• Features are due to continued inflammation and scars in infected tissues
▪ Facial features: saddle nose, frontal bossing, short maxilla
▪ Dental findings: Hutchinson's teeth (notched, widely spaced teeth); Mulberry molars
▪ Eyes and Ears: interstitial keratitis, sensorineural hearing loss
▪ Skin: Gummas
▪ Skeletal: Saber shins (anterior bowing of the tibia), painless arthritis in knees/ joints
▪ Neurologic: cranial nerve palsies (e.g., CN VIII defect causing deafness), intellectual
disability, hydrocephalus
- Dx
o Fetus: Repeated US (placentomegaly, hepatomegaly, ascites, and/or hydrops fetalis)
o Newborn and mother
▪ Initial test: RPR or VDRL (serum)
▪ Confirmatory test: dark-field microscopy or PCR of lesions or bodily fluids
- Tx
o 14 days of IV penicillin G
- Prevention
o Maternal screening in early pregnancy
▪ Penicillin G for mother in early pregnancy → transmission is usually after first trimester

CONGENITAL LISTERIOSIS
- Pathogen: Listeria monocytogenes
- Transmission
o Mother
▪ Contaminated food: especially raw milk products
▪ Other possibilities: fish, meat, industrially processed vegetables (e.g. ready-made salads)
o Fetus
▪ Transplacental transmission from an infected mother
▪ Direct contact with infected vaginal secretions and/or blood during delivery
- Clinical features
- Intrauterine transmission
o Increased risk of spontaneous abortion or premature birth
o Meningitis→ Infection later in pregnancy→ 3rd most common cause of meningitis in newborns
o Sepsis
- Transmission during birth or postnatally (via contact with the mother or contaminated environment)
o 5 days to 3 weeks after birth: Listeria meningitis/encephalitis
- Dx
o Bacterial culture from blood or CSF samples (pleocytosis)
- Tx
o IV ampicillin and gentamicin (for both mother and newborn)
- Prevention
o Avoidance of unpasteurized dairy products
o Avoidance of cold deli meats
CONGENITAL VARICELLA INFECTION
- Pathogen: Varicella-zoster virus (VZV)
- Transmission: Transplacental transmission from an infected mother
- Clinical features
o IUGR, premature birth
o Chorioretinitis, cataract→ Can cause blindness
o Hypoplastic limbs
o Cicatricial skin lesions in a dermatomal distribution
o Encephalitis/CNS abnormalities
o Pneumonia
- Dx
o Foetus: PCR for VZV DNA (in fetal blood, amniotic fluid) and US to detect abnormalities
o Newborn and mother
▪ Usually clinical diagnosis is confirmed by appearance of skin lesions
▪ Direct fluorescent antigen test or PCR of fluid from blisters or CSF
▪ Serology
- Tx
o For pregnant women or newborns with (severe) infection: acyclovir
o Administer postexposure prophylaxis in newborns if mother displays symptoms of varicella < 5
days before delivery: IgG antibodies (varicella-zoster immune globulin, VZIG)
o Caesarean section if lesions are present at delivery
o Encouraged breastfeeding for possible protective effect of antibodies in breast milk
- Prevention
o Immunization of seronegative women before pregnancy
o VZIG in pregnant women without immunity within 10 days of exposure

CONGENITAL PARVOVIRUS B19

- Pathogen: Parvovirus B19
- Transmission: Transplacental transmission from infected mother
- Clinical features
o Severe anaemia a→ also causes aplastic anemia in sickle cell disease
o Possibly foetal hydrops
o Miscarriage/stillbirth in approximately 10% of cases
o Most intrauterine infections do not result in foetal developmental defects.
- Diagnosis
o Mother: serologic assays for IgG and IgM against parvovirus B19
o Foetus
▪ PCR for parvovirus B19 DNA (amniotic fluid or blood)
▪ Doppler ultrasound of foetal vessels in suspected hydrops fetalis
- Treatment
o Intrauterine foetal blood transfusion in cases of severe foetal anaemia
- Prevention
o Hand hygiene (frequent hand washing)
o Pregnant women with risk factors for TORCH infection should avoid potentially contaminated
workplaces (e.g., schools, paediatric clinics)

UNDERSTANDING SEROLOGY
- Positive IgM and negative IgG: very recent infection → refer to specialist
- Positive IgM and IgG: acute infection → refer to specialist
- Positive IgG and negative IgM: maternal immunity → reassurance
- Negative IgG and negative IgM: no maternal immunity → counselling
CONGENITAL RUBELLA INFECTION
- Pathogen: Rubella virus
- Transmission
o Foetus: Transplacental from infected mother
o ~90% transmission if infected in first trimester; but ~0% if at >20 weeks
- Clinical features
- Miscarriage, preterm birth, foetal growth restriction (especially likely if infection occurs during the first
trimester)
- Congenital rubella syndrome
o Triad of congenital rubella syndrome → CCC
▪ Cataracts
▪ Cochlear defect: Bilateral sensorineural hearing loss
▪ Cardiac defect: most common defect (e.g., patent ductus arteriosus, pulmonary artery
stenosis)
o Additional nonspecific clinical features
▪ Hepatosplenomegaly, jaundice
▪ Haemolytic anaemia, thrombocytopenia
▪ Petechiae and purpura (blueberry muffin rash)
▪ CNS defects: microcephaly, intellectual disability, panencephalitis
- Dx
o Newborn and mother
▪ PCR for rubella RNA (throat swab, CSF)
▪ Serology (abnormally high or persistent concentrations of IgM and/or IgG antibodies)
▪ Viral culture (nasopharynx, blood)
o Foetus
▪ IgM antibody serology (chorionic villi, amniotic fluid)
▪ PCR for rubella RNA (chorionic villi, amniotic fluid)
- Tx
o Intrauterine rubella infection
▪ < 16 weeks: Counsel to terminate pregnancy
▪ > 16 weeks: reassurance
o Congenital rubella syndrome: supportive care (based on individual disease manifestations) and
surveillance (including monitoring for later complications)
- Prevention
o Most mothers have been vaccinated, so congenital infection is rare
o Immunization of seronegative women before pregnancy
CONGENITAL CMV INFECTION
- Pathogen: Cytomegalovirus
- Transmission
o Mother: via CMV-contaminated blood, urine, saliva, and genital secretions
o Fetus: Transplacental transmission from an infected mother
o Newborn: During birth or postnatal via breastmilk from infected mother
- Clinical features
o Subclinical infection (∼ 90%): ∼ 10% go on to develop a late complication (most commonly
hearing loss).
o Symptomatic infection at birth (∼ 10%): ∼ 70-80% go on to develop a late complication.
o Fetal infection
▪ Risk of fetal demise, IUGR, Oligohydramnios or polyhydramnios, placental abnormalities
o Sequelae of fetal and newborn infection
▪ Jaundice, hepatosplenomegaly
▪ IUGR
▪ Chorioretinitis
▪ Sensorineural deafness
▪ Periventricular calcifications
▪ Petechiae and purpura (blueberry muffin rash)
▪ Microcephaly
▪ Seizures
- Dx
o Foetus and newborn: US → hydrocephalus, periventricular calcifications, or intraventricular
haemorrhage
o Newborn and mother
▪ CMV IgM antibodies (blood)
▪ Viral culture or PCR for CMV DNA (urine, saliva)
o Foetus
▪ Viral culture or PCR for CMV DNA (amniotic fluid)
▪ CMV IgM antibodies (foetal blood)
- Tx
o Foetus
▪ Severe anaemia: intrauterine blood transfusions
▪ Thrombocytopenia: platelet transfusions
o Newborn
▪ Supportive therapy of symptoms (e.g., fluid/electrolyte imbalances, anaemia,
thrombocytopenia, seizures, secondary infections)
▪ Ganciclovir, valganciclovir, or foscarnet
o Mother: valacyclovir is the only therapy approved during pregnancy
- Prevention
o Frequent hand washing, especially after contact with bodily secretions of small children (e.g.,
diaper changing)
o Avoidance of food sharing with children
o Avoidance of kissing small children on the mouth

Congenital toxoplasmosis may manifest with symptoms similar to those of congenital CMV infection!
CONGENITAL HERPES SIMPLEX VIRUS INFECTION
- Pathogen: Mainly herpes simplex virus 2 (HSV-2); in rare cases HSV-1
- Transmission
o Foetus: Transplacental transmission from an infected mother (rare)
o Newborn: perinatal transmission during birth
- Clinical features
o Intrauterine HSV infection (congenital herpes simplex virus infection)
▪ Foetal demise, preterm birth, IUGR
▪ Microcephaly, hydrocephalus, and other CNS defects
▪ Microphthalmia, chorioretinitis
▪ Vesicular skin lesions
o Perinatal and postnatal transmission
▪ Skin, eye, and mouth disease
• Vesicular skin lesions
• Keratoconjunctivitis‚ cataracts, chorioretinitis
▪ CNS disease
• Meningoencephalitis (manifesting with fever, lethargy, irritability, poor feeding,
seizures, bulging fontanelle)
▪ Disseminated disease
• Features similar to those of sepsis, with multiple organ involvement
• Vesicular skin lesions (may not appear until late in disease course)
- Dx
o Foetus: ultrasound may show CNS abnormalities
o Newborn (and mother)
▪ Standard: viral culture of HSV from skin lesions, conjunctiva, oro/nasopharynx, or
rectum
▪ Alternative: PCR for HSV DNA (CSF, blood)
- Tx
o Newborn and mother: IV acyclovir or valaciclovir
o Additionally in newborns: supportive therapy of fluid/electrolyte imbalances, SIRS, septic
shock, seizures, secondary infections, etc.
- Prevention
o Antiviral therapy (acyclovir) beginning at 36 weeks of gestation for individuals with a known
history of HSV lesions
o Caesarean section in women with active genital lesions or prodromal symptoms (e.g., burning
pain)

HSV should be considered in infants up to 6 weeks of age with vesicular skin lesions, persistent fever
with negative cultures, and/or symptoms of meningitis, encephalitis or sepsis. A high index of
suspicion is warranted in neonatal HSV. Skin, eye, and mouth disease has a good prognosis if detected
and treated early!
INFECTIOUS DISEASE If <4 weeks, temperature
reading should be
Monospot = heterophile Ab test measured in the axilla.

Most frequent cause of early onset infection = GBS.

In all febrile children, should record: Do not give anti-pyretics in a child with
- Temperature the sole aim of reducing temperature or
- RR for the prevention of febrile convulsions.
- HR ONLY give anti-pyretics if they are
- Cap refill. distressed and unwell.

Scoring
GREEN AMBER RED
Colour Normal Pallor reported by carer Pale/ mottled/
ashen/ blue
Activity Awake, smiling, No smile, wakes after No response
strong normal prolonged stimulation, Does not wake if
cry decreased activity roused
Weak, high-
pitched
continuous cry
Respiratory Nasal flaring Grunting
Tachypnoea RR >60
Sats <95% Chest indrawing
Crackles
Circulation Normal skin Tachycardia skin turgor
Moist Cap refill >3
membranes Dry membranes
Poor feeding
UO
Other Fever for ≥5 days <3mo and >38oC
Swelling of a limb Non-blanching
Rigors rash
Not using an extremity Bulging
<6mo and >39oC fontanelle
Neck stiffness
Status/ seizures/
focal signs
ACTION Reassure and Safety net and book f/u Admit urgently
send home appointment

Other important points:

- Do not prescribe ABx if fever of unknown source
- If pneumonia but not going to admit → do not CXR.
Rashes

Type of lesion Description Cause

Macular/ papular Flat/ raised/ blanching areas Rubella (macular), measles, HHV6/7,
enterovirus
Rare: Scarlett fever, Kawasaki’s
Purpuric/ Non-blanching red/purple spots, Meningococcal, HSP, enterovirus,
petechial test with glass thrombocytopenia
Vesicular Raised hemispherical lesions Chicken pox, shingles, HSV, hand foot &
<0.5cm contain clear fluid/ mouth disease
purulent fluid
Pustular/ bullous Raised >0.5cm with pus/ purulent Impetigo, scalded skin syndrome (Staph
fluid a)
Desquamification Dry & flaky loss of surface Post-scarlet fever, kawasaki
epidermis, often peripheries

Chicken pox (HHV3, VZV)

• = primary VZV infection N.B. shingles =
• Incubation = 10-23 days neuropathic pain →
o Infectious from -2 → 5 days give amytriptilline/
o Exclude from school until >5 day of rash
th gabapentin.
• Presentation:
o temperature
o 2 days later: crops of pleiomorphic vesicles
▪ Macule → papule → vesicle → ulcer → crusting.
o Especially on torso, face, mucous membranes
• VERY infectious.
• Complications (rare):
o Pneumonitis
o Secondary bacterial infection – onset of new, persistent high temp
o Disseminated haemorrhagic chickenpox
o Encephalitis (typically cerebellum → cerebellar
signs, e.g. ATAXIA)
o Purpura fulminans (due to vasculitis in skin/ SC
tissues) →
• Severe infection develops in immunocompromised, CF,
severe eczema, neonates.
• Management:
 o Keep cool
o Calamine to soothe
o Trim nails to scratching
o Antiseptic for spots (e.g. chlorhexidine)
o Potassium permanganate soak: dries up vesicles
o Flucloxacillin if bacterial superinfection
o IVIg + aciclovir in: • IVIg for exposure (pregnant
▪ Immunocompromised woman, neonate of woman
▪ If mother develops it <7 days after birth who has acquired in in last 7
▪ Exposed preterm infants who develop days of pregnancy)
rash • Acyclovir AS WELL if rash is
o Aciclovir IV if very severe in newborn. developed
• NO routine vaccination.

HSV1 and 2
Presentations:
• Cold sores
• Genital lesions
• Gingivostomatitis:
o Commonest HSV in 10mo-3yo
o Vesicular lesions on tongue, lips, palate →
ulceration and bleeding
o High fever
o Pain eating and drinking
o Mx: symptomatic, but severe disease may require
acyclovir + chlorhexidine mouthwash.
• Eczema herpeticum: give acyclovir
• Herpetic whitlow: white pustules on skin
• Dendritic ulcer
• Neonatal:
o risk in mothers with infected genital tract
o Present in first few weeks with herpetic lesions round eye or
encephalitis
o Mx:
▪ Elective C-section ONLY if mother has primary disease at
delivery
▪ Avoid foetal blood sampling, scalp electrode, instruments.
▪ If primary infection in within 6 weeks of giving birth: give
acyclovir PO until delivery, then elective CS.
• If born vaginally, give mother IV acyclovir
intrapartum and high dose acyclovir for neonate.

CMV
• Transmission via bodily fluids (inc. Breast milk)
• Normally asymptomatic
• May have viral illness with splenomegaly, liver function, abnormal
lymphocytes, pharyngitis, lymphadenopathy
• IN UTERO: growth restriction, hepatosplenomegaly, jaundice,
thrombocytopenia, microcephaly
 o LT: sensorineural hearing loss
• If immunocompromised, can cause:
o Retinitis
o Pneumonitis
o BM failure
o Hepatitis, colitis, oesophagitis
o Encephalitis
• Can be treated with ganciclovir/ foscarnet.

EBV
• Associated with Burkitt’s, lymphoproliferative disease and NP carcinoma.
• Tropism for B cells and epithelial cells of pharynx.
• Older children:
o Lymphadenopathy, dysphagia, pain
o Petichiae on soft palate
o Splenomegaly, hepatomegly
o Maculopapular rash
o Jaundice
• Ix:
o Monospot test (heterophile Ab). May be –ve in very young.
o Paired sera (for IgM and IgG).
• Mx:
o Avoid contact sports and alcohol
o Paracetamol
o Systemic corticosteroids if serious tonsillar enlargement/
haemolytic anaemia
o Ampicillin/ amoxicillin → rash.

Fever then → rash

HHV-6 and -7 (sixth disease, roseola infantum)
• HHV-6 = more prevalent
• Exanthum subitum (roseola infantum, 6th
disease):
Roseola= o A few days of sudden high fever with
Rose-6-Ola malaise
▪ May cause febrile convulsions (it is
the cause of <1/3 of FCs in <2yo).
o As fever is recovering → on 6th day rash
appears.
▪ Starts on CHEST → limbs.
o Beware: if ABx were prescribed during fever, rash may then be
attributed to allergy.
• Clinical diagnosis
• No school exclusion required.
• Mx: paracetamol + fluids.

ΔΔ = Kawasaki
Measles→ RubeOLA
• Droplet infection
• RNA paramyxovirus
• Incubation = 7-12 days
• Disease:
o Prodrome:
▪ Cough, coryza, conjunctivitis,
febrile, irritable
o Rash – florid. Becomes blotchy and
confluent→ Descending from head.
o Koplik’s spots:
▪ Prodromic viral exanthema of measles – they precede the
rash
▪ White lesions on buccal mucosa
▪ Often fade as rash appears
• Complications (more common in<5yo/ >20yo):
o Otitis media = MOST COMMON
o Pneumonia = most common cause of DEATH.
o Encephalitis (can lead to LT seizures, deafness, LD)
o Subacute sclerosing panencephalitis: develops 7-14 years after
primary infection. Progressive myoclonus,
choreoathetosis, dystonia, dementia, coma and
death.
o risk of appendicitis
o In immunocompromised: giant cell pneumonia
• Diagnosis: specific serum samples (IgM) taken 3 days
after appearance of rash.
• If unvaccinated child has a contact → offer vaccine
within 72h
• Vit A has been shown to ↓ risk of complications

Mumps
• 14-21 day incubation
• Transmission by droplet
• Features:
o Fever, malaise
o Parotitis swelling (→ earache/ pain on eating)
o Muscular pain
o Orchitis (unilateral enlarged testicle 1 week after parotitis).
Fertility may be impaired.
• Ix: amylase due to pancreatic involvement.
• Complications:
o PANCREATITIS
o Aseptic meningitis
o Meningitis
o fertility from orchitis/ oophritis
o Deafness
o Cerebellar ataxia
Rubella (German measles)
• Incubation period = 14-21 days
• Childhood disease = mild. Main problem is maternal infection → foetus.
• Foetal rubella syndrome:
o Heart: PDA, pulmonary stenosis
o Eyes: cataracts, glaucoma, retinopathy Rubella starts on
o Ears: sensorineural deafness face; scarlet fever
o Hepatosplenomegaly, growth retardation spares face
• In adult:
o Low grade fever followed by pink-red maculopapular rash which
starts on the face then spreads to the rest of body.
o Generalised lymphadenopathy
o Suboccipital/ post-auricular lymphadenopathy
• Precautions:
o All women screened for rubella at booking
o Women found to be seronegative on antenatal screening should be
immunised after delivery→ Vaccine is live hence why
o Pregnant women exposed to rubella should be screened for IgM/
IgG REGARDLESS of previous immunisation Hx.

Fifth disease (erythema infectiosum, slapped cheek disease→ When you

get SLAPPED= FIVE (5th Disease) fingers run across your face!)
• = parvovirus B19.
• Transmission: respiratory secretions, vertical, blood.
• Starts with a red rash on the face → spreads to lacy reticular red rash on
extremities and trunk.
• Suppresses erythropoiesis for 7 days → can cause aplastic crisis.
• No school exclusion required; no avoidance of pregnant women once rash
has appeared.
• In adults causes arthalgia/arthritis/odema
• In pregnancy: Difference to LACY rash from
o Hydrops foetalis Roseola is that here it starts from
o Death FACE and spreads down whereas
o Spontaneous abortion. in Roseola it SPARES the FACE!
STAPH AND GROUP A STEP

Scarlet fever
• Streptococcal antigen
• Droplet infection → incubation 2-4 days
• Fever followed by rash
• Presentation:
o Rash:
▪ Fine, red and rough textured (sandpaper-like)
▪ Chest, axilla, behind ears
▪ Spares face, palms and soles→ Peri-oral
Scarlet fever:
pallor
Spares face
▪ Sloughs off after 6 days
Sandpaper-like
o Fever
Sloughs off
o Sore throat – tonsillitis
Strawberry tongue
o Pastia’s lines (lines in skin creases)
o Strawberry tongue (red and furry)
• Treat with penicillin (PenA → azithromycin)
• Consider rheumatic fever if chorea.
• Complications: rheumatic fever, Sydenham’s chorea, acute
glomerulonephritis.
TSS (Toxic Shock Syndrome)
• GAS or Staph aureus.
• Toxin → superantigen.
• Presentation:
o Temperature
o Hypotension
o Diffuse, sunburn-like rash
o Desquamation on soles and palms 1-2 weeks later
o Multi-organ dysfunction
o Mucositis
o GI vomiting/ diarrhoea
o Clotting abnormalities + thrombocytopenia
• Mx:
o → take to ITU.
o Debride areas of infection
o Ceftriaxone + clindamycin
o IVIg may also be used to neutralise toxin

Scalded skin syndrome

• Staph toxin → separation of skin through
granular cell layers → red, blistering
skin which resembles a burn/ scald.
• Presentation:
o Fever, malaise
o Purulent, crusting, localised
infection around eyes and nose
o Widespread erythema
• Nikolsky sign: epidermis separates on
gentle pressure.

Enterovirus
• =:
o Polio
o Coxsackie viruses A & B
o Echovirus.
• Faecal-oral transmission.
• Virus replicates in gut → spreads to other organs.
• Classic clinical syndromes:
o Hand, foot and mouth (coxsackie A16):
▪ Painful vesicular lesions on hands,
feet, mouth, tongue and buttocks
• (ΔΔ VZV if haven’t yet had)
▪ Mild systemic features
▪ Subsides in a few days
▪ Does not require school exclusion.
o Herpangina (coxsackie):
▪ Vesicles on back of throat
 ▪ Sore throat, loss of appetite, headache, neck pain
▪ Ulcerated lesions of soft palate
o Meningitis/ encephalitis:
▪ There may be a skin rash present – difficult to distinguish
from meningococcal

TB
• Very low bacterial load in children, thus can be hard to diagnose.
• Must treat according to sensitivity. Isolates from:
o Sputum
o Gastric lavage
o Excised tissue.
• If CXR/ mantoux negative but high index of clinical suspicion → TB.

Malaria
• Parasitaemia in <7days old implies transplacental transmission
• Babies:
o Fever, irritability, refuse feeds
o Anaemia, jaundice
o Hepatosplenomegaly
• Do an LP in cerebral malaria to rule out meningitis, or in those with
malaria + febrile seizures.
• Mx:
o Quinine (CI in G6PD)
▪ Widespread falciparum resistance
o Chloroquine
▪ Used in pregnancy
o Mefloquine
o Artemether - particularly effective vs resistance
• Longer course for vivax/ ovale → must make sure dormant hypnozoites
are also killed.

Threadworms
• Enterobius vermicularis
• Infestation occurs after swallowing eggs that are present in the
environment
• Presentation:
o 90% = asymptomatic
o Peri-anal itching
o Girls may have vulval Sx
• Dx: sellotape to peri-anal area → lab
• Mx: mebendazole single dose to WHOLE HOUSEHOLD, + hygiene advice.
Immunisation schedule
Routine immunisations
• 0 weeks:
o BCG:
▪ Offered to high risk groups (>40/100,000)
o Hepatitis B (IV) (first dose):
▪ To children with +ve mothers
▪ (Also give IVIg if mother HBeAg +ve)
• [4 weeks:
o Hepatitis B (alternative time to give first dose)]
• 8 weeks:
o Hepatitis B (second dose)
o DTaP(5) (diphtheria, tetanus, pertussis)/ IPV (inactivated polio
virus - IV)/ HiB.
▪ 5 in one. 5 in 1:
▪ IV DTaP/ IPV/ HiB
o Pneumococcus (conjugate, IV)
o Rotavirus (PO)
o Men B (new in 2015)
• 12 weeks:
o DTaP(5)/ IPV/ HiB
o Men C
o Rotavirus
• 16 weeks:
o DTaPV/ IPV/ HiB
o Pneumococcus
• 12 months:
o Hepatitis B (third dose)
• 12-13 months:
o HiB/ Men C (1 injection)
o Pneumococcus
o MMR
• 2 years:
o Influenza (given every year 2→17: herd immunity; to stop spread to
grand parents rather than to protect children). Nasal spray; LIVE
vaccine
Nasal flu vaccine CI if:
• 3 – 5 years:
- Egg allergy
o DTaP(5)/ IPV/ HiB pre-school booster
- Immuncompromised
o MMR booster
- Current febrile illness/
• 12-13 years:
blocked nose
o HPV for girls
- Wheeze
• 14 years: - Taking aspirin (e.g. for
o Diphtheria/ tetanus/ IPV booster Kawasaki’s → Reye’s
o Men C booster syndrome)
• 65 years:
o Influenza annually
o Pneumococcus
• 70-80 years:
o Varicella zoster.
 (Pneumococcal)
Men B

Men C

Men B

Men B & C

Men ACWY

Distribution
• Not required by law but offered.
• All recommended vaccines are free on NHS.
• Vaccination must reach cost effectiveness to be recommended.

Live attenuated Inactivated Detoxified Extracts of organisms/

exotoxins virus
All the PO ones. - Polio IPV - Tetanus - Diphtheria
- MMR - Rabies - Pertussis
(injection) - Influenza IM - HiB
- BCG - Meningicoccus,
- Influenza pneumococcus,
nasal spray haemophilus
- Rotavirus
- Typhoid
- Yellow fever
- Oral polio

No changes in schedule for premature.

 • CI to vaccination:
o Anaphylaxis to previous dose/ fragment
o Delay administering it in febrile illness/ concurrent infection.
• CI to live vaccines:
o Pregnancy
o Immunodeficiency
o On steroids (within 3mo)
o Recent IVIg treatment (within 3 mo)
• Specific vaccine CIs:
o Live flu vaccine (nasal), yellow fever: egg allergy
o DTP: evolving/ unstable neurological condition
• In HIV+ve, give ALL EXCEPT BCG.

A few specific vaccines

Meningicoccus
• Serogroups: A, B, C, Y, W135
• Outcomes: 5% die, 10% have severe/ moderate disabilities, amputations,
cerebral palsy, deafness, brain damage
• Vaccine = fragment of bacterium (conjugated with polysaccharide
antigen)
• Schedule:
o 1 dose Men C given at 12 weeks
o 2nd dose Men C given with HiB at 12-13 months
o Booster at 13-14yo.

MMR
• Injection
• 1st dose at 12 mo
• 2nd dose pre-school
• Both required for herd immunity, as some do not react for first dose.
• Live attenuated.
• IF NOT INITIALLY IMMUNISED:
o Can give MMR, with a repeat dose in 3 months.
• CIs:
o Severe immunosuppression
o Allergy to neomycin
o Children who have received another live vaccine within 4 weeks
o IVIg within past 3mo (may be no response to measles).
• SEs: fever, malaise and rash 5-10 days after.
• Pregnancy should be avoided for 1mo.
 Illness Incubation Period School/nursery exclusion
(days) infectiousness
Chicken pox 10-23 -2→+5d Until 5 days after onset of rash

Enterovirus (non-polio, 2-7 Not known 24h from last diarrhea except for
non-hand foot & mouth) E.coli – 2 –ve stools
Gastroeneteritis (viral) 1-10 1-3wks dep on
organism

Gastroenteritis 1-10 dep on <7d

(bacterial) organism
Hand, foot & mouth 3-5 Not known
(coxsackie)
HSV stomatitis 3-5 Not known Until lesions crusted/ treated

HHV6/7 10-15 1-2d pre-rash, 7d 5d from onset rash

post
Impetigo 2-15 Not known Until lesions are dry

Measles 6-19 1-2d pre-rash to 5d from onset of rash

6d after
Mumps 15-24 Not known 7d from onset of parotitis

Rubella 15-20 Most infectious in 7d from onset parotitis

prodrome
Parvovirus 13-18 Not known

TB 1-12mo Not known

School exclusion
Advice Condition
No exclusion Conjunctivitis
Fifth disease
Roseola infantum
Infectious mononucleosis
Head lice
Threadworms
24h after starting ABx Scarlet fever
4d from onset of rash Measles
5d from onset of rash Chickenpox
5d after starting ABx Whooping cough
5d from onset swollen glands Mumps
Until symps have settled for 24h D&V
Until lesions have crusted over Impetigo
Until treated Scabies
Until recovered Influenza
11. BIRTH INJURIES
- Infants may be injured at birth, particularly if they are malpositioned or too large for the pelvic outlet
- Severe injuries are now rare due caesarean deliveries for difficult births
SOFT-TISSUE INJURIES
- CAPUT SUCCEDANEUM– bruising and oedema of the presenting part extending beyond
the margins of the skull bones; resolves in a few days → Due to pressure against cervix
- CEPHALHAEMATOMA – Haematoma from bleeding below the periosteum, confined
within margins of the skull sutures. Usually involves the parietal bone. Resolves over
several weeks
- CHIGNON – oedema and bruising from Ventouse delivery (vacuum-assisted vaginal delivery)
- BRUISING – on face, genitalia or buttocks depending on delivery position; more common in preterms
- ABRASIONS – from scalp electrodes applied during labour or from accidental scalpel
incision at caesarean section
- SUBAPONEUROTIC HAEMORRHAGE – diffuse boggy swelling of scalp, blood loss may
be severe and can lead to hypovolaemic shock and coagulopathy

BRACHICAL NERVE PALSY

- May occur at breech deliveries or with shoulder dystocia, which can lead to:
1. Hyperextension of the brachial plexus
2. Partial tearing of the plexus
3. Formation of hematoma in or around the plexus
1. ERB’S PALSY (upper)
- Injury to the upper trunk of the brachial plexus (C5-C6)
- Weakness of muscles in C5 and C6 myotomes → flexed wrist, an extended forearm
and internally rotated and adducted arm → “waiter's tip” posture
o Weak biceps brachii, brachialis, and brachioradialis → impaired flexion and
supination of the forearm; absent biceps reflex
o Weak infraspinatus → impaired external rotation of the arm
o Weak deltoid and supraspinatus → impaired arm abduction
o Weak wrist extensors → impaired wrist extension
- Asymmetric Moro reflex in infants (absent or impaired on the affected side)
- Sensory loss in the C5 and C6 dermatomes (thumb and lateral surface of the
forearm and arm)
- May be accompanied by phrenic nerve palsy (C3-C5) → elevated diaphragm
- Immobilization in flexion and external rotation with an abduction brace
- It usually resolves completely but should be referred to an orthopaedic or plastic
surgeon if not resolved by 2–3 months → most recover by 2 years
2. KLUMPKE’S PALSY (lower)
- Injury to the lower trunk of the brachial plexus (C8-T1)
- Weakness of C8 and T1 myotomes (intrinsic hand muscles) → total claw hand
- Absent grasp reflex in infants
- Sensory loss in the C8 and T1 dermatomes (little finger and medial surface of forearm and arm)
- Involvement of T1 may result in Horner’s syndrome
- Hypotrophy and hypoesthesia of thenar and hypothenar
- Movements of wrist and fingers are affected
- Hand should be placed in splint
3. TOTAL PALSY (COMPLETE) → worst prognosis
- Combination of both types → Complete palsy of the arm → flaccid
- Frequently Horner syndrome is observed (miosis, partial ptosis, anhidrosis, enophthalmos)
* Physiotherapy and Surgery in all cases if there’s severe nerve damage

FACIAL NERVE PALSY

- Most common cranial nerve injury
- Occurs due to:
o Pressure from forceps use (most common causes)
o Compression of the facial nerve against the mother’s ischial spine
- It is unilateral, and there is facial weakness on crying, but the eye remains open
- Tx – Eye care with artificial tears and ointment (protect the cornea)
- Prognosis: spontaneous recovery in 90% of cases within several weeks
CLAVICLE FRACTURE
- Usually from shoulder dystocia
- May present as: snap heard at delivery; reduced arm movement; or a lump from callus over the
clavicle at several weeks of age
- Prognosis is excellent and no specific Tx is required

HUMERUS/FEMUR FRACTURE
- Usually midshaft, occurring at breech deliveries, or fracture of the humerus at shoulder dystocia
- Presents as deformity, reduced movement of the limb and pain on movement
- Heals rapidly with immobilization
12. HYPOXIC ISCHAEMIC ENCEPHALOPATHY (HIE)
Perinatal asphyxia = compromised gas exchange (placental or pulmonary) → Hypoxia, hypercarbia and
respiratory acidosis → CO → tissue perfusion → hypoxic ischaemic injury to brain and other organs
- Hypoxic-ischaemic injury causing encephalopathy usually occurs antenatally or during labour or
delivery, or may occur postnatally, BUT the encephalopathy may sometimes be caused by another
neonatal condition (not asphyxia), e.g. inborn error of metabolism or kernicterus
ETIOLOGY
- Inadequate maternal placental perfusion:
o Maternal hypotension
o Maternal HTN
- Failure of placental gas exchange:
o Prolonged uterine contractions Infants at most risk are
o Placental abruption those >42 weeks who try
o Ruptured uterus normal vaginal delivery
- Interruption of umbilical blood flow: (NVD) and get stuck
o Cord compression, e.g. from shoulder dystocia
o Cord prolapse
- Comprised foetus:
o Anaemia
o IUGR
- Failure of cardiorespiratory adaptation at birth: pressure in the pulmonary circulation is higher in
utero, but must drop after birth to allow perfusion of the lungs

SEVERITY - Clinical manifestations start immediately or up to 48 hours after asphyxia, and can be graded:
- MILD:
o Irritable, staring eyes, excessive response to stimulation, hyperventilation, impaired feeding
o Complete recovery can be expected
- MODERATE:
o Marked abnormalities of tone and movement, can’t feed, may have seizures
o If normal feeding by 2 weeks = good prognosis
o If issues persist = full recovery unlikely
- SEVERE:
o No normal spontaneous movements/ response to pain
o Tone in limbs may fluctuate between hypo-/ hypertonia
o Seizures: prolonged and refractory
▪ ΔΔ: infection, IV haemorrhage, structural lesion, metabolic disturbance/ disorder
o Multiple organ failure
o Mortality 30-40% without cooling therapy (mainly available in high-income countries)
▪ 80% of survivors will have neurodevelopmental disorders, especially cerebral palsy
o Neuronal damage can be:
• 1o: immediate neuronal death
• 2o: delayed (reperfusion injury)

Pathogenesis and clinical features of severe

hypoxic-ischaemic encephalopathy →
MANAGEMENT
Resuscitation at birth:
1. Insert IV lines ± arterial lines
2. Assess eligibility for therapeutic hypothermia
3. Start cerebral functional analysis monitoring (CFAM) – essentially an EEG to classify background
activity
4. Fluid restrict, due to transient renal impairment
5. Assess for hypoglycaemia and electrolyte imbalance

Therapeutic hypothermia:
- Has become standard therapy in the UK and many countries if moderate or severe
o Not used in middle- or low-income countries
Criteria:
o A) In term infants, >1.8kg and <6h old:
▪ Apgar ≤5/ continued need for resuscitation for 10 mins
▪ Cord acidosis pH <7
o B) Altered level of consciousness + 1 of the following:
▪ Hypotonia
▪ Abnormal reflexes
▪ Clinical seizures
o If A) and B) are met → assessment on CFAM: if this shows abnormal background activity/
seizures → criteria met.
o N.B. if CFAM not available but A) and B) met, discuss with senior → may start
Process:
o Cool to 33-34oC (rectal temp) within 6h of incident
o Maintain for 72hrs, before warming up
o Monitor rectal temperature throughout
o Also monitor via:
▪ Cranial USS
▪ Blood gases
▪ Ventilator

Prognosis WITHOUT cooling:

o Spastic quadriplegia
o Dyskinetic cerebral palsy (basal ganglia)
o Severely reduced IQ
o Cortical blindness
o Hearing loss
o Epilepsy

** The diagnosis ‘birth asphyxia’ has potentially serious medicolegal implications; it has been recommended that
infants who have the clinical features of HIE should only be considered to have birth asphyxia if there is:
- Evidence of severe hypoxia antenatally or during labour or at delivery
- Resuscitation needed at birth
- Features of encephalopathy
- Evidence of hypoxic damage to other organs such as liver, kidney or heart
- No other prenatal or postnatal cause identified
13. NEONATAL SEIZURES

- Occurs in ~4/1000 births

- They appear as repetitive, rhythmic (clonic) movements of the limbs that persist despite restraint and
are often accompanied by eye movements and changes in respiration

Causes
- Hypoxic-ischaemic encephalopathy (due to birth asphyxia/respiratory distress etc)
- Infection (meningitis/encephalitis)→ Sometime congenital infections
- Intracranial haemorrhage/infarction
- Structural CNS lesions (focal cortical dysplasia/tuberous sclerosis)
- Metabolic disturbance (Hypoglycaemia; Hyocalcaemia; Hypomagnesaemia; Hypo/Hypernatraemia;
Hyperbilirubinemia (Kernicterus)
- Metabolic disorders (urea cycle disorders/amino acid metabolism)

Dx
- Can be difficult as there may only be subtle clinical signs of seizures
o May miss seizures referable to the brainstem, e.g. nystagmus, conjugate eye movements,
posturing, sucking movements, lip smacking, etc. Grand mal is rare
- Cerebral ultrasound is performed to identify haemorrhage or cerebral malformation
- MRI scans of brain is need for some cerebral ischaemic lesions or cerebral malformations
- EEG is used to confirm seizure activity

Tx
- ABC
- Turn on the side
- Rule out or treat reversible causes such as hypoglycaemia and electrolyte disorders
o Hypoglycaemia and meningitis need to be excluded or treated urgently
- Start on empirical antibiotics, if possible sepsis
- Investigate to find cause of seizures
- If prolonged or repeated seizures consider anticonvulsants
o Firstline: Phenobarbital IV
o Secondline: Phenytoin IV
- Metabolic abnormalities are treated with metabolic approaches; don’t rely on conventional
anticonvulsants

https://www.youtube.com/watch?v=
Igj1HBT6oCQ
14. HAEMORRHAGIC DISEASE OF THE NEWBORN (VITAMIN K DEFICIENCY BLEEDING)

- Vitamin K deficiency bleeding of the newborn (VKDB) refers to spontaneous bleeding in a newborn
caused by a deficiency of vitamin K dependent-coagulation factors
- As vitamin K does not cross the placental barrier, is not present in breast milk, and is not synthesized in
the sterile gut of a newborn, vitamin K levels are low in all neonates
- VKDB is rare in industrialized countries because most children receive a vitamin K injection at birth

ETIOLOGYY
- The underlying cause is always a deficiency of vitamin K, which can be due to various factors:
o Vitamin K deficiency in the mother (e.g., because of anticonvulsant therapy)
▪ Most important in early-onset VKDB; maternal malnutrition
o Exclusive breastfeeding: low vitamin K levels in breast milk
▪ Most important in late-onset VKDB
o Underdeveloped intestinal flora (which produces vitamin K), e.g., due to premature birth
o Long-term antibiotic treatment in newborns
▪ Impairment of the vitamin K-producing bacterial flora
o Low liver storage capacity
o Cholestatic diseases (e.g., biliary atresia)→ Common for Late onset-VKDB

CLINICAL FEATURES
- Bleeding is usually Subgaleal, intracranial, Nasal, Gastrointestinal
- VKDB is categorized as
o Early-onset (within 24 hours after birth)
▪ Bleeding at sites related to trauma at birth
▪ Intracranial bleeding is common
o Classic (within 4 weeks)
▪ Intracranial bleeding is rare
▪ Bleeding: GI, Skin and Mucous membranes, prolonged bleeding after trauma
o Late-onset (between 2–8 months)
▪ Intracranial bleeding is common → long-term cranial disability
▪ Often caused by undiagnosed cholestasis → malabsorption of vitamin K
▪ Greatest morbidity/ mortality

Dx
- Coagulation studies:
o Normal bleeding time
o Decreased Vit K dependant coagulation Factors II, VII, IX, and X → vitamin K dependent
factors→ 2,7,9,10 ASWELL as Decrease Anti-thrombotic factors→ Protein C & S
▪ Increased Prothrombin time (PT) (I, II, V, VII, X)
▪ Normal or Increased activated partial thromboplastin time (aPTT)→ Extrinsic pathway
(I,II,V,VIII,IX,X,XI,XII)

Tx
- Vitamin K IM should be given to all newborn infants to prevent haemorrhagic disease of the newborn
o Parents may request oral vitamin K as an alternative
▪ IM may cause a haematoma as they are deficient of clotting factors
- Mothers on anticonvulsant therapy should receive oral prophylaxis from 36 weeks gestation and the
baby should be given intramuscular vitamin K
Thrombin once produced will produce negative feedback system to inhibit the over clotting→ Produces:
- Plasmin (from plasminogen) which directly breaks down the stable clot
- Anti-thrombin→ Inhibits Factor Xa and factor itself (factor IIa)

Activated Protein C (APC) production is induced by thrombin → APC inhibits factor Va and VIIIa
- Protein S acts as a cofactor to activate protein C
- Thrombomodulin inhibits thrombin directly and stimulates APC
15. Allergy
Hx
- Feeding and weaning: recent change in milk? Bottle fed from day 1?
- Diet and nutrition
- FHx – maternal atopy?
Dennis+
- PMHx: atopy, allergy, asthma, eczema Morgan
- SHx: pets, recreational drugs, smoking Freeman
O/E
- Dennie-Morgan folds (extra folds under eyes from oedema) → marker for atopic dermatitis (Allergy)
- ‘Allergic salute’ – nose-wiping with hand (can leave a permanent crease across the top of your nose)
- Enlarged cervical LNs
- Pale and swollen nasal turbinates (bones inside the nose)
- Mouth breathing.

Food allergy
- Can be:
o Immunological reaction:
▪ IgE mediated
▪ Non-IgE mediated
o Non-immunological (i.e. food intolerance).
- Can occur the 1st time a food is ingested.
- Commonest causes:
o Infants: milk, cow’s milk protein, peanut, egg Live influenza
o Older children: peanut, tree nut, fish, shellfish. (nasal), some
injected influenza
- IgE mediated (IMMEDIATE, type I): and yellow fever
o E.g. anaphylaxis, asthma, rhinitis, acute food allergy vaccines should not be
o Very soon after ingestion: given to children with
▪ Urticaria, face swelling, anaphylaxis egg allergies.
▪ Sneezing, bronchospasm
▪ Oral pruritis
▪ Nausea, colicky abdominal pain, D&V
o Can be:
▪ 1o: allergic from first ingestion (more common)
▪ 2o: initially tolerate, and then become allergic due to cross reactivity of antigens in
fresh fruit/ veg and pollens.
o Diagnosis:
▪ Skin prick test:
• Size of reaction does not correlate with severity
• Good for ruling allergens out
• Many false +ves
• Must stop anti-histamines before.
▪ RAST test (RadioAllergoSorbentTest):
• Blood test for food-specific IgE levels.
• No need to stop anti-histamines before.
- Non-IgE-mediated (DELAYED, type IV):
o Delayed onset (48h-1 week)/ variable clinical course
o May feature eczema/atopic dermatitis, enterocolitis, reflux, colic, FTT.
o Typically involves the GI tract:
▪ GORD
▪ Loose/ frequent stools
▪ Blood and mucus in stools
▪ Abdominal pain, colic, constipation
▪ Food refusal/ aversion
▪ Perianal redness, pallor, tiredness
o Diagnosis:
▪ There is no diagnostic test
▪ Dietary exclusion→ Stop 6 wks= no Sx// Start again= symptoms start
▪ ± gut biopsy
 This is not cow’s milk
- Food intolerance:
protein allergy.
o Experiencing digestive problems to certain foods even though the
immune system is not responding (not the cause)
o E.g. transient lactose intolerance following gastroenteritis
o Previously well child
o Develops diarrhoea and vomiting → watery diarrhoea continues for 4-6 weeks then resolves.
o Features in older child: flatulence, cramps, diarrhoea.
o If persisting, lactose (reducing sugar) can be detected in the stool using Clinitest method.

- A food challenge test is the only Ix which can predict the severity of a reaction following exposure→
Food is eaten gradually in increasing amounts under the supervision of a medical profession until
symptoms of intolerance develop.

Cow’s milk protein allergy→ Infant formula (whey protein)

- Commonest food allergy of infancy They are BOTH allergies – not to be
- IgE-mediated allergy: confused with intolerance, which is
o Immediate urticarial reaction from first feed → anaphylaxis separate and to do with lack of
o Ix: skin prick test ± RAST enzyme etc.
- Non-IgE mediated allergy:
o GI symptoms: projectile vomiting, diarrhoea, FTT in first few
months, blood and mucous in stool
o Trial of absence for diet for 6 weeks → Sx stop → restart when re-introduced.
o Ix: exclusion trial from diet for 6 weeks.
- Management:
o Hydrolysed baby formula milk (may make stools go green)
▪ Avoid using sheep/ goat/ soya milk as many will develop an allergy to these as well
o Trial of re-introduction of cow’s milk every 6-12 months.
o If still intermittently breastfeeding, MUST NOT DRINK COW’S MILK.

The allergic march

- Allergic children develop different allergies at different ages:
o INFANCY: eczema and food allergy
o PRE-SCHOOL/ PRIMARY: allergic rhinitis, conjunctivitis
o OLDER: asthma
- Eczema and food allergy when you are young are predictive of rhinitis/ asthma when older.

Allergic rhinitis
- Presentation:
o Coryza and conjunctivitis
o Cough variant rhinitis due to post-nasal drip
o Mainly due to airborne pollens/ spores
- Management:
o 1st = Anti-histamines: loratidine, cetirizine
o 2nd = intranasal steroid spray = beclometasone
o Course of oral corticosteroids may occasionally be needed

o Topical decongestants can be used, but beware tachyphylaxis.

▪ Nasal spray (α1-agonist → vasoconstriction): oxymetazoline, sodium cromoglycate

o Cromoglycate eye drops

o Leukotriene inhibitors, e.g. zafirlukast (if rhinitis co-exists with asthma)
o Specific immunotherapies.

Zafir had allergic rhinitis + Asthma→

Used the leukotriene inhibitors.
UPPER RESPIRATORY TRACT INFECTIONS (URTIs)

- Children have a ~5 URTIs per year in the first few years of life
- Some toddlers and primary school-aged children have as many as 10–12 per year
- ~ 80% of all respiratory infections involve only the nose, throat, ears or sinuses
- URTIs may cause:
o Difficulty in feeding in infants as their noses are blocked and this obstructs breathing
o Febrile seizures
o Acute exacerbations of asthma.

COMMON COLD (CORYZA)

- Most common infection of childhood
- Pathogen: Most common are viruses: Rhinoviruses (>100 different serotypes), Coronaviruses and
Respiratory syncytial virus (RSV)
- Clinical features: clear or mucopurulent nasal discharge and nasal blockage
- Tx: Self-limiting with no specific curative treatment
o Pain → best treated with paracetamol or ibuprofen
- Cough may persist for up to 4 weeks after a common cold

SORE THROAT (PHARYNGITIS AND TONSILLITIS)

PHARYNGITIS
- Pathogen: usually due to viral infection (mostly adenoviruses, enteroviruses, as well as rhinoviruses)
o In the older child, group A β-haemolytic streptococcus is common
- The pharynx and soft palate are inflamed, and local lymph nodes are enlarged and tender
TONSILLITIS
- A form of pharyngitis
- Pathogen: commonly due to group A β-haemolytic streptococci and Epstein–Barr virus (infectious
mononucleosis)
o Group A β-haemolytic streptococcus can be cultured from many tonsils
- Clinical features: Intense inflammation of the tonsils, often with a purulent exudate
o Marked constitutional disturbance, such as headache, apathy and abdominal pain, white
tonsillar exudate and cervical lymphadenopathy, is more common with bacterial infection
- Tx: Antibiotics (e.g. penicillin V or erythromycin if there is penicillin allergy) are often prescribed for
severe pharyngitis and tonsillitis even though only a third are caused by bacteria. They may hasten
recovery from streptococcal infection. In order to eradicate the organism completely (and prevent
rheumatic fever) 10 days of antibiotic treatment is required for pharyngitis or tonsillitis. Rarely, in
severe cases, children may require hospital admission for intravenous fluid administration and
analgesia if they are unable to swallow solids or liquids. Amoxicillin is best avoided as it may cause a
widespread maculopapular rash if the tonsillitis is due to infectious mononucleosis.
SCARLET FEVER
- Pathogen: group A streptococcal infection results in scarlet fever
- Most common in children aged 5–12 years
- Clinical features: Fever usually precedes the presence of headache and tonsillitis by 2–3 days
o ‘Sandpaper-like’ maculopapular rash with flushed cheeks and perioral sparing → presence of
the rash is variable
o Tongue is often white and coated and may be sore or swollen
- Tx: Penicillin V or erythromycin to prevent complications → acute glomerulonephritis or, very rarely
in high-income countries, rheumatic fever
TONSILLECTOMY AND ADENOIDECTOMY
- Children with recurrent tonsillitis are often referred for removal of their tonsils
- Many children have large tonsils and adenoids, usually reaching a maximum size at about 8 years but
this in itself is not an indication for tonsillectomy or adenoidectomy as they shrink spontaneously in
late childhood
- Tonsillectomy maybe performed when there is recurrent severe tonsillitis, peritonsillar abscess,
obstructive sleep apnoea, etc.
- Adenoidectomy maybe performed when there is recurrent otitis media with effusion with hearing loss,
obstructive sleep apnoea, etc.
ACUTE OTITIS MEDIA
- Common infection, usually at 6–12 months of age
- Pathogens: virsues (especially RSV and Rhinovirus), bacteria (pneumococcus
- Infants and young children are prone → Eustachian tubes are short, horizontal, and function poorly
- Clinical features: Pain in the ear and fever→ Ear pulling
o Every child with a fever must have their tympanic membranes examined
o TM is bright red and bulging with loss of the normal light reflection
▪ Occasionally, there perforation with pus visible in the external canal
▪ Pathogens include viruses (especially RSV and rhinovirus) and bacteria (Pneumococcus,
Haemophilus influenzae and Moraxella catarrhalis)
▪ Serious but uncommon complications → mastoiditis and meningitis
▪ Tx: Analgesics such as paracetamol or ibuprofen
• Most cases of acute otitis media resolve spontaneously
• Antibiotics shorten duration of pain and reduce the risk of hearing loss
o Rx should be given but only used if child remains unwell after 2–3 days
▪ Amoxicillin is widely used
OTITIS MEDIA WITH EFFUSION
o Arises from recurrent ear infections
o Is very common between the ages of 2–7 years
o Clinical features: Children are usually asymptomatic apart from possible decreased hearing
▪ Eardrum is seen to be dull and retracted, often with a fluid level visible
o Tx: Usually resolves spontaneously but may cause conductive hearing loss → most common
cause of conductive hearing loss in children → can interfere with normal speech development
and result in learning difficulties in school
▪ In such children, insertion of ventilation tubes (grommets) is often performed, but
benefits do not last more than 12 months → TYMPANOSTOMY!!
▪ Children with recurrent URTIs and chronic otitis media with effusion (glue ear) that
does not resolve with conservative measures often also undergo grommet insertion
• If recurs after grommet extrusion, then reinsertion of grommets with adjuvant
adenoidectomy

SINUSITIS
- Infection of the paranasal sinuses may occur with viral URTIs
- Occasionally, there is secondary bacterial infection, with pain, swelling and tenderness over the
cheek from infection of the maxillary sinus
- As the frontal sinuses do not develop until late childhood, frontal sinusitis is uncommon in the first
decade of life
- Antibiotics and analgesia are used for acute sinusitis.

STRIDOR
- Stridor is a musical noise heard in inspiration from partial obstruction at the larynx or large airways
- Stertor is an inspiratory noise like snoring, coming from pharynx obstruction (commoner in obese)
- Children’s airways are narrower and more readily deformed than adult airways, so obstruction happens
faster and more dramatically
- Signs: swallowing difficulty/drooling, pale/cyanosed, using accessory muscles of respiration;
downward plunging of the trachea with respiration (tracheal tug); all are grave signs and mean
impending obstruction
Causes
- Congenital: Laryngomalacia, web/stenosis, vascular rings.
- Inflammation: Laryngitis, epiglottitis, laryngotracheobronchitis, anaphylaxis
- Tumours: Haemangiomas or papillomas (usually disappear with onset of immunity—but may require
laser treatment before)
- Trauma: Thermal/chemical—or from intubation.
- Miscellaneous: Airway or oesophageal foreign body; vocal cord paralysis.
- Leading causes to be distinguished are viral croup, bacterial tracheitis and epiglottitis (rare in the
UK since haemophilus vaccination), and inhaled foreign body
- Investigations: This is a clinical diagnosis; lateral neck X-ray may show an enlarged epiglottis, but this
wastes time at a dangerous and critical time
Laryngotracheobronchitis/croup
- The leading cause of stridor with a barking cough (much commoner than epiglottitis)
- Age: <6yrs Epidemics: Autumn
- Pathology: Subglottic oedema, inflammation, and exudate
- Causes: Parainfluenza virus (1, 2, 3), respiratory syncytial virus, measles (rare)
o Bacteria (klebsiella; diphtheria) & fungi are rare.
- Signs: Stridor, barking cough, hoarseness from obstruction in the region of the larynx
o If there is cough and no drooling, croup is almost always the diagnosis
- Is classified into mild/moderate and severe disease
- Usually self-limiting; treat at home (± antibiotics)
- Mild/moderate may be sent home if settles with dexamethasone, 0.15mg/kg PO or prednisolone 1–
2mg/kg
- In hospital: Aim for minimal interference and careful watching (TPR; SAO2) by experienced nurses.
Watch for severe signs: Restlessness; cyanosis (give O2); sternal retractions; rising pulse/respiratory
rate; tiredness
- Admit ITU if severe
o CXR may show ‘steeple sign’ of a tapering trachea
o Give antibiotics, humidified O2, + nebulized adrenaline (5mL 1:1000, may buy time in severe
disease needing ventilating), and dexamethasone PO or budesonide nebulized
▪ NB! volume of stridor is a factor of flow; in severe disease, stridor will be very soft
- Failure to improve with steroids / nebulized adrenaline should prompt the consideration of →
Bacterial tracheitis→ S.aureus
o This is defined by the presence of thick mucopurulent exudate and tracheal mucosal sloughing
that is not cleared by coughing, and risks occluding the airway
o There is often a history of a viral infection (such as croup) with an acute deterioration
o Pronounced tracheal tenderness may be present
o Tx - early intubation and cefotaxime + flucloxacillin→ Same as breast abcess (S.aureus)
o Hydrocortisone may be given but isn't of proven value
Acute epiglottitis → D’s = respiratory distress, drooling, dysphagia, dysphonia
- Rarer than croup, but mortality is higher → is an emergency as respiratory arrest can occur
- Often, history is short, septicaemia is rapid, and cough is absent
- Signs: sore throat, fever, dyspnoea, dysphonia, dysphagia, drooling (head forward tongue out) →
prefers to sit→ TRIPOD POSITION, refusal to swallow→ THUMB SIGN on CXR
- Typical cause: Haemophilus (vaccination has reduced prevalence); Strep pyogenes
- Managing suspected epiglottitis:
o Stay calm! Avoid examining the throat → may precipitate obstruction
o Do not bleed the patient or upset him, and quickly summons the most experienced anaesthetist
to make the diagnosis by laryngoscopy → epiglottitis (a cherry-red, swollen epiglottis) →
Intubate before obstruction occurs
o Since cause is usually H.influenzae type b → treat with 3rd generation cephalosporin
o Hydrocortisone may be given but isn't of proven value

DIPPHTHERIA
- Corynebacterium diphtheria → grey pseudo-membrane formation over nose/ pharynx/ larynx
- Systemic disease → myocarditis and neurological manifestations
- Treat with diphtheria anti-toxin and erythromycin
- Now essentially eradicated because of vaccine
17. WHEEZING AND PNEUMONIA
- Stridor = upper airway = inspiratory
o Croup
o Epiglottitis
- Wheeze = lower airway = expiratory
o Asthma
o Viral LRTIs
o Bronchiolitis
o Foreign bodies
o Tracheo-oesophageal fistula
o GORD
o CF

Pre-school wheeze
- Generally classed as:
o Episodic viral wheeze:
▪ Only occurs following URTI
▪ Tx:
• 1st = SABA
• 2nd = montelukast/ inhaled steroids if there is a Hx of atopy.
▪ No increased risk of asthma.
o Multi-trigger wheeze:
▪ Triggered by URTI, exercise, allergens, cigarettes.
▪ Tx: inhaled steroids or montelukast
▪ risk of asthma later on.

BRONCHIOLITIS
- Most common serious respiratory infection of infancy; usually in winter months
o 90% are aged 1–9 months; highest risk group = <6 months
- Typical cause: Winter respiratory syncytial virus (RSV) – 80% cases
o Others: Mycoplasma, parainfluenza, adenoviruses.
o Co-infection with more than one virus is possible = RSV + metapheumovirus
- Premature infants who develop bronchopulmonary dysplasia or with other underlying lung disease
(e.g. CF) are at greatest risk from severe infection
Presentation
- Coryzal symptoms precede a dry cough and increasing breathlessness
- Low fever, tachypnoea, wheeze, inspiratory crackles, intercostal recession ± cyanosis
- Recurrent apnoea is a serious complication
Ix
- Pulse oximetry in all suspected cases
- No other investigations are routinely recommended
o CXR or blood gases are only indicated if respiratory failure is suspected
- Hospital admission is indicated if any of the following are present:
o Apnoea (observed or reported)
o Severe respiratory distress – grunting, marked chest recession, or a RR >70 breaths/min
o Persistent oxygen saturation of < 90% when breathing air
o Inadequate oral fluid intake (50–75% of usual volume)
Mx
- Humidified oxygen is either delivered via nasal cannula or using a head box
o Stop O2 when SpO2 >92%
- Nasogastric feeds
o Fluids may need to be given by nasogastric tube or intravenously
- 5% need ventilating
- NO EVIDENCE for reducing severity or illness duration using mist, nebulized hypertonic saline,
antibiotics, corticosteroids or nebulized bronchodilators
- Most infants recover from the acute infection within 2 weeks. However, as many as half will have
recurrent episodes of cough and wheeze
PNEUMONIA
Age Pathogens
Neonates - Organism from the mother's genital tract, particularly group B streptococcus
- Also can be:
o E Coli
o Chlamydia trachomatis
o Listeria monocytogenes
Infants - Respiratory viruses e.g. RSV (most common); adenovirus
- Strep pneumoniae
- Haemophilus influenzae
- Bordetella pertussis
Children >5 - Strep pneumoniae
years - Haemophilus influenzae
- Group A strep.
- Mycoplasma pneumoniae = MOST COMMON in school-aged children
** TB SHOULD BE CONSIDERED FOR ALL AGE GROUPS
- RFs:
o Low birthweight, vitamin A deficiency, bottle fed.
- Presentation:
o Similar to that in adults Wheeze: think RSV and bronchiolitis
o Wheeze = viral more likely
o Pain = pleural irritation = bacterial
o ABDOMINAL PAIN is a common presentation of pneumonia in children
o *Dullness to percussion/ signs of consolidation often absent in children
- Ix:
o CXR/FBC/blood and sputum cultures
▪ Nasopharyngeal secretions for viral PCR
- Mx:
o ABx: Viral LRTI is more
▪ Mild → amoxicillin common than
▪ Severe → co-amoxiclav bacterial infection in
▪ PenA = erythromycin children <2, so those
▪ If mycoplasma possible → add in macrolide with mild symptoms
o O2 to maintain sats >92% can typically be
o Admit if:
discharged without
▪ Sats <90% in <6months
antibiotics
▪ Signs of respiratory distress
▪ Suspected MRSA
▪ Concerns about observation at home
- PREVENTION:
o Prevanar-13: conjugate vaccine vs 13 common serotypes of streptococcus pneumonia
▪ 8 weeks, 12 weeks, 12 months
o HiB: given as part of the 5 in 1 at: 8/ 12/ 16 weeks, and with MenC booster at 12-13 months
18. Chronic lung infections. Cystic fibrosis
- Any child with a persistent cough that sounds ‘wet’ or is productive requires further investigations
- Could be due to:
o Persistent bacterial bronchitis → common organisms are Haemophilus influenzae and Moraxella
catarrhalis → precursor to bronchiectasis if Ix and Tx are not instituted
▪ Bacterial growth from sputum or bronchial lavage is consistent with the Dx
▪ Tx is with a high dose of antibiotic such as co-amoxiclav, coupled with physiotherapy
o Bronchiectasis (permanent dilatation of the bronchi)
▪ Can be generalized or restricted to a single lobe
▪ Generalized bronchiectasis may be due to cystic fibrosis, primary ciliary dyskinesia,
immunodeficiency, or chronic aspiration
▪ Focal bronchiectasis is due to previous severe pneumonia, congenital lung abnormality,
or obstruction by a foreign body
• CXR may show gross bronchiectasis, but often it is not possible to identify it →
best identified on CT
• For focal disease, bronchoscopy is usually indicated to exclude a structural cause

CYSTIC FIBROSIS
- Autosomal recessive
- 1/25 carry the gene
o Thus 1/2500 live births. Sweat test:
- Mutation in CFTR gene (CF Transmembrane conductor Regulator) Pilocarpine administered,
on chromosome 7 chloride content of the sweat
o luminal Cl secretion and Na absorption is measured.
o secretions.
o In sweat glands, Na and Cl reabsorption → salty sweat.
- Features:
o Neonate:
▪ FTT (failure to thrive)
▪ Recurrent persistent chest infections with purulent sputum
▪ Nature of sputum predisposes to infection by:
• S.aureus
• H.influenzae
• Pseudomonas later in life.
▪ Meconium ileus: contents of meconium not broken down due to pancreatic insufficiency
→ firm plug of meconium and distended loops of bowel.
▪ Rectal prolapse (due to bulky stools).
o 0-2:
▪ Extended period of neonatal jaundice
▪ Steatthorea
o Children 2-8:
▪ Nasal polyps, sinusitis
▪ Resp:
• Wheeze, cough/ haemoptysis, infections
• Bronchiectasis
• Pneumothorax
• Cor pulmonale
o 8+:
▪ GI:
• Pancreatic insufficiency → DM, steatorrhoea
• Distal intestinal obstruction syndrome
• Gallstones
• Cirrhosis
▪ Cor pulmonale
▪ Pneumothorax
▪ Male infertility
▪ Delayed puberty
▪ Vasculitis
▪ Osteoporosis (due to fat→ vit D)
 - Signs:
o Clubbing
o Cyanosis
o Bilateral coarse crepitations (bronchiectasis)
- Respiratory organisms:
o Early:
▪ S.aureus
▪ H.influenzae
o Later:
▪ Pseudomonas
▪ Burkholderia
- Diagnosis:
o Part of newborn blood spot test using immunoreactive trypsinogen (enzyme produced by
pancrease and ↑ in CF) (IRT) with the aim of early diagnosis to preserve lung function.
o GOLD STANDARD = Sweat test:
▪ Na and Cl >60mM
▪ False +ves: atopic eczema/ adrenal insufficiency/ ectodermal dysplasia/ hypothyroid/
glycogen storage disorder/ first day of birth
▪ False –ve: oedema.
o Genetic screening for common mutations (although there are many)
o Faecal elastase:
▪ Tests pancreas exocrine function
▪ Absence = dysfunction.
▪ Not all children have pancreatic involvement → not 100% reliable

- Other Ix:
o Bloods: FBC, LFTs, clotting, ADEK levels, glucose TT
o Sputum MCS
o CXR → bronchiectasis
o Abdo US: fatty liver, cirrhosis, pancreatitis
o Spirometry: obstructive defect
o Aspergillus serology/ skin test (20% develop ABPA).

- Management:
o MDT
o Chest:
▪ Physio: postural drainage, forced expiratory techniques
▪ ABx:
• Oral flucloxacillin in first 2 years of life, as particularly prone to Staph
infections→ Same Abx as mastitis/tracheatis
▪ Mucolytics: DNase, e.g. dornase alpha or hypertonic saline
o Nutritional:
▪ Pancreatic enzyme replacement (creon): amylase, lipase, protease → CRAYON!!!!!!!
▪ ADEK supplements
▪ Insulin if impaired glucose tolerance
▪ Omeprazole
▪ High calorie high fat diet
o Management of complications, e.g. DM.
o DEXA osteoporosis screen.

- Prognosis: death due to pneumonia/ cor pulmonale, ~31yo.

CFTR is a protein in the membrane of (epithelial) cells found in lungs, pancreas, vas deferens etc→ The protein is
responsible for transport of Cl- in/out of cells.
- In lungs→ The epithelial cells cannot secrete Cl- into the lumen hence Na+ follows the Cl- and water follows
Na+ leaving behind a thick/mucoid secretion in the lungs airways (in lumen)
- In sweat→ Cl- cannot be re-absorbed from the sweat hence Na+ follow Cl- and salt (NaCl) is lost in sweat
DawnASE Alpha
 19. TUBERCULOSIS
- Pathogen: Mycobacterium Tuberculosis → Synonymous with acid-fast bacilli
- Incidence and mortality in developed countries has declined, however, there’s an increased incidence in
HIV patients, and emergence of multidrug-resistant Mycobacterium tuberculosis strains (MDR-TB)
- Infection depends on the exposure and efficiency of person’s immune system
- Close proximity, a large infectious load in the index case, and underlying immunodeficiency enhance the
risk of transmission → children typically acquire TB from an infected adult in same household
o Transmission → respiratory droplets → can become droplet nuclei which can remain
suspended in the air for hours
o Children are generally not infectious, because their disease is typically paucibacillary
▪ Also they rarely produce sputum, and they lack tussive forces necessary to project
and suspend infectious particles
- Latent TB is more likely to progress to active TB in infants and young children compared with adults

Dx
- Sputum samples are generally unobtainable → children < 8 years swallow sputum
o Gastric washings and sample extraction via NG tube on 3 consecutive mornings → acid–fast
bacilli (Ziehl–Neelsen stains or auramine stains) and cultures → check of MDR-TB
▪ PCR can also be used in parallel to mycobacterial cultures
- Urine, lymph node tissue, CSF, and radiological examinations should also be performed
- Tuberculin skin test (TST; Mantoux test) → injecting purified protein derivative of tuberculin into
forearm (0.1 ml intradermal injection, read after 48 – 72 hours as induration measured in millimetres)
o TST may be positive from past BCG vaccination
o New guidelines in UK = Induration of 5 mm or more should be considered to be positive,
regardless of prior BCG vaccination
▪ Other countries use different cut-offs (typically 10 mm)
- Interferon-gamma release assays (IGRAs) → blood-based tests for TB
o Assess response of T cells to in vitro stimulation, with a small number of antigens expressed by
M. tuberculosis but not by BCG
o Positive results = TB infection rather than BCG vaccination
o Negative IGRA does not reliably rule out TB infection
- Neither IGRA nor TST can distinguish between latent and active TB
- In advanced immunocompromised both TST and IGRA can be false negative
DDx
- Avoid making incorrect diagnosis of TB on CXR alone, as lymphoid interstitial pneumonitis can have
a similar appearance and occurs in 20% of HIV-infected children
o All individuals with TB should be tested for HIV, and vice versa

Tx
- Triple or quadruple therapy (Rifampicin, Isoniazid, Pyrazinamide, Ethambutol), unless MDR-TB is
strongly suspected (e.g. when a household member has been recently diagnosed with MDR-TB)
o Then decrease to Rifampicin and Isoniazid alone after 2 months
- Tx for uncomplicated pulmonary TB or TB lymphadenitis is usually for 6 months; longer treatment
courses are required for osteoarticular TB, TB meningitis, or disseminated disease
- In adolescents, pyridoxine is given weekly to prevent peripheral neuropathy associated with isoniazid
therapy → a complication that does not occur in young children
- In tuberculous meningitis, dexamethasone is given initially → decreases risk of long-term sequelae
- Asymptomatic children who are Mantoux or IGRA positive and therefore latently infected should also
be treated (e.g. with rifampicin and isoniazid for 3 months or isoniazid alone for 6 months) →
decreases risk of reactivation (i.e. conversion to active TB) later in life
Prevention
- BCG immunization (not 100% effective) → BCG-vaccinated children can still acquire TB infection)
o In the UK, BCG is recommended at birth for high-risk groups
- BCG, which is a live vaccine, should not be given to HIV-positive or other immunocompromised
children due to the risk of severe local reactions and dissemination
- Essential to screen other family members for TB infection
- Children < 2 years who had close contact with a sputum smear-positive pulmonary TB person should
be started on prophylactic isoniazid; if the TST and the IGRA are negative at 6 weeks, isoniazid should
be discontinued, and the BCG vaccine should be given (unless previously immunized with BCG)
CLINICAL FEATURES
- Active TB is often nonspecific → prolonged fever, malaise, anorexia, weight loss, or focal signs of
infection (e.g. lymph node swelling in TB lymphadenitis)
- Majority (~3/4) of cases are with active TB have pulmonary TB; extrapulmonary disease is less
common and includes TB lymphadenitis, osteoarticular TB, genitourinary TB, and TB meningitis
20. ASTHMA
- The most common chronic respiratory disorder in childhood in the developed world
- Diagnosing in preschool children is often difficult → ~ half of all children wheeze at some time during
the first 3 years of life → generally, there are 3 patterns of wheezing:
• Viral episodic wheezing – wheeze only in response to viral infections
▪ Typically, preschool children with episodic wheezing during infections
• Multiple trigger wheeze – in response to multiple triggers and which is more likely to develop
into asthma over time → seen in both preschool and school aged children
• Asthma → more common in children with a personal or family history of atopy
PATHOPHYSIOLOGY

CLINICAL FEATURES
HISTORY
- Wheeze, cough, chest tightness
• Widespread polyphonic (multiple pitch) wheeze
• Asthma should be suspected with wheezing on more than one occasion, particularly if there are
interval symptoms
- Certain pattern/ triggers → Sx worse at night or early morning; occurs in intervals
- Symptoms worse at night
- Exercise induced
- Family history of atopic disease
- Positive response to asthma therapy
OBSERVATIONS
- No clubbing; wet cough or sputum production
- ENT for allergic rhinitis
- Eczema
- Chest is normal between attacks; though might be hyperinflated in long-standing asthma
Dx
- Usually diagnosed by history and examination alone → parental description and response to Tx
- Sometimes specific tests are needed to confirm the diagnosis, or determine the severity and phenotype
in more detail
• Skin-prick testing for common allergens
• CXR → usually normal unless other condition is present
- If there is uncertainty in the diagnosis or disease severity needs to be monitored, peak expiratory flow
rate (PEFR) or spirometry (FEV1) is performed → used for children >5 years
• Increased variability in peak flow = poorly controlled asthma
• Bronchodilator test = improvement of >12% confirms reversibility → characteristic of asthma
 - UK Dx criteria
• FEV1 ≥15% AND 200ml with bronchodilators
• FEV1 ≥15% after 15 mins of exercise
• PEF varies by >20% during the day on ≥3days/ week for 2 weeks

DDx in Asthma Clues

Cystic fibrosis - Failure to thrive, productive cough and finger
clubbing, fatty stool
GORD - Excessive vomiting, dysphagia
Central Airways disease - Inspiratory stridor with wheeze
Laryngeal problems - Abnormal voice
Inhaled foreign body - Sudden onset
Post-viral wheeze - Recent resp. infection in those <2 y/o

MANAGEMENT
<5yo >5yo
1 Salbutamol (SABA) inhaler PRN
2 Salbutamol PRN Salbutamol PRN
Beclometasone BD (Max. 400 – inhibits growth) Beclometasone BD
[OR montelukast mouth dissolving capsule ON if steroids
CI]
3 Salbutamol PRN Salbutamol PRN
Try other one to whichever of becometasone/ montelukast Beclometasone BD
was tried before (NOT LABA) Salmetarol BD- if not working, stop and
Refer to paediatrician if <2yo beclometasone dose
4 Refer to paediatrician Trial of montelukast/ theophylline
5 Prednisolone PO
Salbutamol SEs
• Tremor
• heart rate → myocardial ischaemia → lactate
• K+
• If SEs become too much, can change → terbutaline.
If on high dose inhaled steroids:
• Must monitor growth, as they can growth and cause adrenal suppression
• Transient growth depression may occur; catch up will occur though.
• Consider adrenal insufficiency ± Addisonian crisis if on many steroids and suddenly
consciousness, vomiting, abdominal pain etc.

EMERGENCIES
Most reliable sign for assessing severity = O2 sats.
SEVERE LIFE-THREATENING
• Too breathless to speak/ feed • Pallor, cyanosis, poor respiratory
• PEFR <50% if 5-12 effort, fatigue, agitated, silent chest
• Sats <92% • PEFR <33%
• RR:
o >40 if <5yo
o >30 if >5yo
o >25 if >12yo
• HR:
o >140 if <5yo
o >120 if >5yo
o >110 if >12yo

Management
All children with an exacerbation of asthma should have a 3 day course of prednisolone (regardless of severity).
• MODERATE:
 o PEFR (if >5yo) = >50%
o Wheeze
o Sats 92-95%
o Tx
▪ 10 puffs of salbutamol
▪ Repeat after 15-20 mins if necessary
▪ Discharge with 3 day course of prednisolone
• SEVERE/ LIFE-THREATENING:
o OSHSIM:
o O2
o Salbutamol neb
o Ipratropium neb
o IV salbutamol
o Prednisolone fluid/ hydrocortisone IV
o Magnesium sulphate/ aminophylline IV

• In an acutely unwell asthmatic who shows initial improvement but then deteriorates suddenly →
tension pneumothorax.
o Hypotension
o Respiratory distress
o Hypoxia.
21. Respiratory failure

Definition: failure of the lungs to maintain adequate gas exchange due to alveolar hypoventilation, diffusion
impairment, intrapulmonary shunting or ventilation-perfusion mismatch.

Respiratory failure can be 2 types:

TYPE 1 = HYPOXEMIC —> due to inadequate oxygenation e.g. Asthma, pneumonia, ARDS. PaO2 <60 mmHg. This can
be acute (minutes to hours) or chronic (days or longer).
TYPE 2 = HYPERCAPNIC —> due to ventilation failure e.g. myasthenia gravis, opioid overdose. PaCO2 >45 mmHg and
pH <7.35. Can be acute or chronic.

Long standing type 1 RF results in hypoxia and eventual organ failure I.e. cardiac arrest.
Long standing type 2 RF results in hypercapnia and this depresses the CNS leading to respiratory arrest.

Causes of respiratory failure:

• Infections e.g. laryngotracheobronchitis/croup, bacterial tracheitis, epiglottitis, retropharyngeal abscess and
peritonsillar abscess
• Trauma e.g. foreign body aspiration, thermal burns and post-extubation croup
• Respiratory disorders e.g. acute respiratory distress syndrome (ARDS), asthma, COPD, bronchiolitis,
pneumonia and pneumothorax
• Left-sided valvular abnormalities
• Neuromuscular disorders e.g. Duchenne muscular dystrophy, Guillain-Barré syndrome, myasthenia gravis
and spinal cord trauma.
• Neurological disorders e.g. Stroke, traumatic brain injury and apnea of prematurity
• Drug overdose

Criteria for diagnosis

• Clinical criteria—> low or absent respiratory breathing sounds, severe inspiratory retractions, cyanosis in the
presence of 40% O2, decreased level of consciousness and poor skeletal muscle tone.
• Physiologic criteria: PaCO2 >65 mmHg and PaO2 <100 mmHg in 50% O2.

Signs and symptoms of respiratory distress

• Tachypnea
o Respiratory rate—> 0-2 months: >60/min; 2 months-1 year: >50/min; 1-5 years: >40/min
• Nasal flaring
• Use of accessory muscles
• Intercostal and subcostal recessions/retractions
• Cyanosis
• Reduced conscious level
• Dyspnea
• Muffled or absent breathing sounds
• Grunting (sign of respiratory fatigue)
• Wheezing
• Stridor
• Cardiovascular manifestations: Tachycardia/bradycardia, hypertension and gallop

Diagnosis
• Clinical assessment:
o Take history
o Physical examination
▪ Pallor or cyanosis, assess respiratory rate and pattern, assess chest wall movement, mental
state. Auscultation of breath sounds and note added sounds e.g. wheezes, crackles, stridor
etc. Measure heart rate.
• Investigations:
o Pulse oximetry
 o Oxygen saturation (SpO2)
o Arterial blood gases: PaO2, PaCO2, assessment of acid-base status
o Full blood count, electrolytes, glucose and blood cultures
o CXR: for diagnosis of pneumonia or assessment of complications e.g. pulmonary oedema and
pneumothorax

Monitoring
• Pulse oximetry, continuous ECG, blood pressure, temperature, fluid balance and consciousness level

Treatment
• First aid—>ABC and intubation
• Treat underlying cause
• Mask ventilation
• Oxygen therapy
• Mechanical ventilation
• Exogenous surfactant in case of neonatal respiratory distress syndrome
• Extra corporeal life support for neonates
22. Vomiting

• Vomiting is the forceful ejection of gastric contents.

• Posseting is the non forceful return of small amounts of milk and often accompanied by return of air
(burp/belching). Occurs in all babies from time to time.
• Regurgitation describes the non-forceful return of larger amounts of milk.

• Vomiting is an active process, composed of 3 linked activities : Nausea, retching and active propulsion of
stomach contents
• Control of vomiting by 2 anatomic centers in the medulla —> Chemoreceptor trigger zone (CTZ) and central
vomiting center.

Vomiting as a disease in neonates

• During the birth, especially in asphyxia, the foetus is taking breaths, leading to aspiration of amniotic fluid
and secretions from the birth canal. Vomiting is due to the irritation of the gastric mucosa. Occurs soon after
the birth and often contains blood and mucus. Vomiting stops spontaneously or after a gastric clean out with
normal saline. DDX: Haemorrhagic disease of the newborn.
• Congenital pyloric stenosis
o Narrowing of the pylorus of the stomach. Affects mainly boys 4:1
o Symptoms: vomiting starts 2-3 weeks after birth; usually after a feed, projectile and non-bilious
(precipitated milk). Volume of vomit is greater the volume which is fed to the infant. Infants are
hungry, lose weight, dehydrated and irritable. Oliguria and false constipation.
o Findings: Palpable pyloric mass (olive) and visible gastric peristalsis. Metabolic alkalosis,
hypochloremia, hypocalcaemia and hyponatremia. Ultrasound shows the enlarged pylorus. During a
barium meal there is delayed emptying of the stomach and the pyloric canal appears narrowed and
prolonged.
o Treatment is surgical: pyloromyotomy.
• Vomiting due Over-feeding—> There is no weight loss, dehydration or metabolic derangement. No visible
gastric peristalsis. Vomiting stops after feeding regime is corrected.
• Duodenal stenosis
o Narrowing in the duodenal canal. Vomiting starts earlier and is bilious. There are two air bubbles on
a plain abdominal X-ray (one in the stomach and one in the dilated proximal part of the duodenum
above the obstruction)—> double bubble sign.
• Congenital adrenal hyperplasia
o Due to an enzyme block which leads to reduced or no production of glucocorticosteroids and
mineralocorticosteroids. The production of androgens is increased which results in precocious
puberty in boys and male sexual characteristics in girls.

Vomiting as a disease in infants

• Gastro-oesophageal reflux
o Involuntary passage of gastric contents into oesophagus due to inappropriate relaxation of lower
oesophageal sphincter
o Symptoms: frequent regurgitations. Non-projectile vomiting occurs after feeding and when lying
down. Poor growth, bronchial obstruction and macro- or more frequently micro haemorrhages from
the ulcerated mucosa of the distal oesophagus (may lead to iron deficiency anaemia.)
o Diagnosis: Imaging studies such as barium meal, radioisotope studies, US and Esophagoscopy. The
gold standard for diagnosis is pH test of acid reflux.
• Congenital anomalies
o Usually starts in the first hours or days after birth.
o Pointers to a congenital abnormality: residual gastric contents more than 10 ml, bile or blood in the
vomit, distended abdomen and disturbed bowel transit.
o Vomiting in hiatus hernia —> resembles that of GERD. The anomaly is confirmed with a barium
meal and a CT.
o Duodenal atresia below the papilla Vateri —> Discontinuation of the duodenal canal. Vomiting
starts in the first days after birth and resembles that in pyloric stenosis but is bilious.
 o Intestinal atresia —> Discontinuation of intestine. Vomiting starts later but is very persistent and
contains fecal matter. The abdomen is distended with gas. Disturbed bowel transit.
o Intestinal malrotation —> Has a similar clinical presentation. Often the diagnosis is made only after
laparotomy.
o Congenital Diaphragmatic hernia
▪ I.e. Morgagni and Bochdalek
▪ Symptoms: respiratory distress which starts soon after birth. Vomiting, sunken abdomen and
bowel sounds can be auscultated in the chest.
▪ Diagnosis is confirmed by a chest X-ray but sometimes may be difficult to distinguish
between diaphragmatic hernia and destructive pneumonia.
o Hirschsprung’s disease
▪ It is due to lack of ganglionic cells in the distal colon so there is no peristalsis. There is
accumulation of feces in GIT resulting in megacolon.
▪ Diagnosis: abdominal distension and delayed passage of meconium. DRE (hypertonic anal
sphincter and empty rectum), abdominal x-ray, barium enema and rectal biopsy.
o Anal atresia —> There is no anal opening. Faeces are formed but can not be excreted. Vomiting
starts late, if the condition is not treated. Diagnosis is made by inspection of the perineum.
• Acquired intestinal obstruction
o Meconium ileus
▪ The first presentation of cystic fibrosis. No meconium is passed after the first 24 hours of
life. Vomiting is associated with abdominal distension. May be complicated by intestinal
perforation and peritonitis.
o Intussusception —> Sudden visceral abdominal pain. Vomiting is secondary to this.
o Volvulus
▪ In children presenting with acquired intestinal obstruction who have undergone abdominal
surgery in the past as a result of which adhesions are formed. On abdominal X-ray there are
air fluid levels.
o Paralytic ileus
▪ It is a common complication of gastroenteritis with severe dehydration or other serious
infections or hypokalaemia of various origins. Vomiting is always present. The abdomen is
distended and sometimes intestinal loops can be seen through the abdominal wall. Absent
bowel sounds. When a rectal probe is applied no faeces are excreted. Air fluid levels are
found on X-ray.
o Foreign bodies in the gastro-intestinal tract.
▪ Hard foreign bodies can cause obstruction at different levels, most commonly at the pylorus.
▪ In girls who suck on their hair and swallow some hairs the obstruction can be caused by
trichobezoar.
▪ Lactobezoar (mass of undigested milk and mucus) causes obstruction in the first weeks of
life in premature babies who are given more concentrated formula feeds. On the x-ray there
are rounded shadows with air halo.
▪ Ascariasis may lead to obstruction when the roundworms form a ball in the lumen.
• Gastritis—> Non-erosive or more frequently erosive. Presents with repetitive epigastric pain. Gastroscopy.
Helicobacter pylori stool culture and urea breath test.
• Peptic ulcer disease—> repetitive abdominal pain and vomiting. Diagnosed by gastroduodenoscopy.
• Necrotising enterocolitis
o Presents as newborns with low birth weight.
o It has 4 stages:
▪ There is delayed gastric emptying, abdominal distension and vomiting during the first stage.
▪ In the second stage diarrhoea develops, often bloody.
▪ Symptoms of shock in the third stage.
▪ Intestinal perforation and peritonitis develop in the last stage.
o Diagnosis: based on clinical findings. Plain abdominal X-ray there may be intestinal pneumatosis (gas
in bowel wall).
• Enterocolitis:
o Viral or bacterial
o Non-infectious diarrhoea. Usually due to dietary mistake. It begins with loss of appetite. Vomiting is
initially associated with forced feeding and is followed by diarrhoea.
 • Appendicitis—> Vomiting usually starts before the abdominal pain which is the main symptom.
• Peritonitis —> The main symptom is somatic abdominal pain. There is paralytic ileus with persistent
vomiting.
• Cow’s milk protein allergy—> diarrhoea and vomiting are main symptoms
• Coeliac disease—> The main symptom is chronic diarrhoea. During exacerbations diarrhoea is accompanied
by persistent vomiting which leads to dehydration.
• Hepatitis—> can be infectious and toxic. Loss of appetite, vomiting and abdominal pain precede jaundice
• Pancreatitis —> Vomiting is a secondary symptom
• Overfeeding

Vomiting due to respiratory diseases

• Upper respiratory tract infections.
o Vomiting is due to irritation of the receptors in the pharynx by the inflammation and the nasal
secretions.
o Hypoglycaemia develops because of the reduced appetite. Hypochloraemia develops after the first
episodes of vomiting and all that triggers a vicious circle of vomiting, dehydration, metabolic
acidosis with ketonuria — acetonaemia.
• Otitis and labyrinthitis—> Irritation of receptors in the middle ear and the labyrinth cause nausea and
vomiting. If of labyrinth origin —> car and sea sickness with vomiting
• Pertussis/Whooping cough, pertussis-like syndrome, foreign body in the airways

Vomiting due to urinary tract diseases

• Urinary tract infection—> In infants and young children vomiting can be the initial symptom.
• Nephrolithiasis
• Acute glomerulonephritis —> Vomiting is usually a symptom of hypertensive encephalopathy.
• Renal failure—> Vomiting is a result of the effects of toxic metabolites on the centre of vomiting.

Pregnancy —> hyperemesis

Vomiting due to neurological diseases

• Neuroinfections: meningitis, encephalitis, abscess.
o Increased intracranial pressure and irritation of n.vagus, which innervates the meninges.
• Brain tumours
o Increased intracranial pressure and disrupted brain haemodynamics. Vomiting happens in the
morning after getting up and not preceded by nausea. No relief after vomiting.
• Intracranial haemorrhages
• Pseudotumour cerebri (idiopathic intracranial hypertension)—> The main symptom is headache, which is
accompanied by dizziness, nausea, vomiting and disturbed vision.
• Hypertension—> due to increased intracranial pressure and disrupted brain haemodynamics.
• Migraine—> Nausea and vomiting accompany the main symptom: repetitive headache
• CNS leukaemia—> Symptoms resemble that of meningitis

Vomiting due to metabolic disorders

• Diabetic ketoacidosis—> Ketones act on the vomiting centre.
• Hypoglycaemia—> The stimulation of the autonomic nervous system and the hyperadrenalinaemia cause
nausea and vomiting.
• Hypercalcaemia —> Can be idiopathic or occurs in hypervitaminosis D and in hyperparathyroidism. Presents
with persistent projectile vomiting.
• Urea cycle defects—> Present with reduced consciousness to coma, hyperammoniaemia, persistent loss of
appetite and vomiting.
• Phenylketonuria—> Typically presents in people with pale skin, fine blonde hair, blue eyes and unpleasant
body odour. Neurological symptoms and mental retardation develop gradually. Raised blood phenylalanine
and increase of it metabolites in the urine.
• Fructosaemia—> Repetitive episodes of nausea and vomiting, abdominal pain, diarrhoea. There is
hepatomegaly and failure to thrive. The hypoglycaemic episodes follow the ingestion of fructose-containing
foods.
 • Tyrosinaemia—>accumulation of tyrosine metabolites causes diarrhoea, vomiting, jaundice, hepatomegaly,
hypoglycaemia and haemorrhages.
• Galactosaemia—> In the neonatal period: jaundice, loss of appetite, vomiting, hypoglycaemia, oedema,
ascites, cerebral oedema and cataract.

Vomiting due to drug/substance poisoning

• Vomiting is present in most cases of poisoning but is characteristic of salicylate (aspirin), cardiac glycoside,
novphyllin and heavy metals overdose.
• There is also vomiting in nicotine and alcohol overdose.

Vomiting due to other causes

• Meniere’s disease —> disorder of the inner ear. Presents with tinnitus, nausea, persistent vomiting and
dizziness/vertigo
• Side effect of radio-and chemotherapy
• Anorexia and bulimia
• Psychogenic vomiting—>Often associated with functional abdominal pain.
• Medications with unpleasant taste or which irritate the gastric mucosa
• Forceful feeding

Diagnosis
• History:
o Note age of patient, onset, duration and frequency of vomiting, determine if associated with food
intake, nature of vomiting (projectile, non-projectile, bilious or non-bilious, fecal content, digested or
non-digested food and colour). Note associated symptoms e.g. fever, pain, diarrhoea, constipation,
dysphagia.
o Ask about symptoms according to systems
o Ask about past medical history e.g. inborn errors of metabolism
o Drug and allergy history
• Physical examination
o Assess patient’s weight before and after illness, consciousness (GCS)
o Hydration status—> sunken fontanelle, sunken and tearless eyes, dry mucous membrane, prolonged
capillary refill time, reduced skin turgor, tachycardia and tachypnea
o Abdominal examination: distension, peristalsis, masses, bowel sounds, hepatosplenomegaly
o CNS examination: muscle tone, strength and reflexes, vision changes and fundoscopy.
o Otoscopy
• Investigations and imaging
o FBC, serum creatinine, blood glucose, blood gases, urinalysis
o CXR, plain abdominal x-ray, barium meal, cranial CT and upper GI endoscopy

Treatment
• Treat cause
• Rehydrate and correct electrolyte imbalance

Disease/condition Therapy-drug class

Reflux Dopamine antagonist:
Metoclopramide and Domperidone
Gastroparesis Metoclopramide, Domperidone
Motilin agonist: erythromycin
Intestinal pseudo-obstruction Sandostatin/Otrecride
Chemotherapy Metoclopramide, Ondansetron,
prochlorperazine, dexamethasone
and cannabinoids: Nabilone
Postoperative Ondansetron, Phenothiazine
Motion sickness Anti-histamine: dimenhydrinate
Anticholinergic: scopolamine
23. Acute and recurrent abdominal pain

Pathophysiology of pain
• Visceral pain has an aching and dull character and is poorly localised. Can be due to mechanical factors e.g.
stretching or chemical factors.
• Parietal pain is sharp and well-localised
• Referred pain is pain perceived at a location other than the site of the painful stimulus/origin. This is due to
many somatic and visceral afferent fibers converging and entering the spinal cord close to each other.

Localisation of pain
• Bilateral – most GI tract, midline pain
• Unilateral – kidney, ureter, ovary, somatic

ACUTE ABDOMINAL PAIN

• There is a wide variety of causes of acute
abdominal pain. It is essential to not delay
the diagnosis of acute appendicitis as this
can progress to perforation and peritonitis
which is life-threatening.
• Note other causes like lower lobe
pneumonia, diabetic ketoacidosis, hepatitis
and pyelonephritis

Acute appendicitis
• Most common cause of abdominal pain in
childhood. Requires surgical intervention.
• Can occur at any age but typically seen in children under 3 years of age.
• Clinical features: Anorexia, Vomiting, Abdominal pain: initially periumbilical colicky pain which then localises
to the the RLQ (McBurney’s point). Fever and Persistent tenderness with guarding in RLQ (maybe absent if
appendix is retrocecal or pelvic)
• Perforation is more rapid in children due to a less well developed omentum which fails to contain the
inflammation
• Treatment: appendectomy. If complicated by abscess or perforation: give IV antibiotics and fluid
resuscitation prior to laparotomy with appendectomy.

Non-specific abdominal pain

• Non-specific abdominal pain is abdominal pain which resolves in 24-48 hours. Pain is less severe than in
appendicitis and tenderness in the RLQ. Often accompanied by upper respiratory tract infection with cervical
lymphadenopathy. If there is no resolve, perform appendectomy.

Mesenteric adenitis
• Large mesenteric nodes seen at laparoscopy and whose appendix is normal, but there is doubt whether this
condition truly exists as a diagnostic entity.

Intussusception
• Invagination of proximal bowel into a distal segment. Most commonly ileum into caecum through ileocecal
valve. Common in 3 months – 2 year. May be complicated by constriction and venous and arterial
obstruction. This results in engorgement of bleeding of mucosa, perforation, peritonitis and gut necrosis.
• Clinical features:
o Paroxysmal severe colicky pain with pallor, refuses feeds, bile stained vomit, palpable sausage-
shaped mass in abdomen, passage of red current jelly stools (blood stained mucus), abdominal
distension and shock.
• Abdominal x-ray: distended small bowel and absence of gas sin the distal colon or rectum
• Abdominal US: target/doughnut sign is seen
• Treatment: Reduction by Rectal air insufflation or operative reduction
Meckel diverticulum
• 2% of individuals have Meckel’s diverticulum, 2% of those get symptomatic, 2 inches from ileocecal valve,
2inches long, men are 2X more likely to be affected and 2 types of tissues are present (Gastric/Pancreatic)→
which is a remnant of the vitello-intestinal duct. It contains ectopic gastric or pancreatic tissue.
• Usually asymptomatic but may present with severe red rectal bleeding
• May be complicated by severe bright red rectal bleeding, Obstruction (e.g. intussusception, volvulus),
Diverticulitis (mimics appendicitis), Perforation and tumours.
• Technetium scan will demonstrate uptake by ectopic gastric mucosa.
• Treatment: surgical resection.

Malrotation
• During rotation of the small bowel in fetal life, if the mesentery is not fixed at the duodenojejunal flexure or
in the ileocecal region, its base is shorter than normal, and is predisposed to volvulus. Ladd bands are
peritoneal bands that may cross the duodenum, often anteriorly. Risk of necrosis due to compromised blood
supply.
• Clinical features: Obstruction due to volvulus—>
bilious vomiting in first few days of life, weight
loss, no stools/bloody stools and abdominal
distension
• Diagnosis—> abdominal x-ray shows distended
stomach and duodenum with excess air whereas
distal bowel has little to no air. Upper
gastrointestinal contrast study with barium will
show corkscrew pattern of contrast in region of
malrotation.
• Treatment—> emergency laparotomy and surgical
correction (cecum on left!). Appendectomy is
done to avoid diagnostic confusion if child
presents with symptoms suggestive of appendicitis.

RECURRENT ABDOMINAL PAIN

• This is defined as pain sufficient to interrupt normal
activities and lasts for at least 3 months
• 90% of cases are not due to an organic cause. Presents
as a periumbilical pain in a ‘well’ child. It is suggested
that this is psychogenic pain which could be a
manifestation of stress and anxiety.

Abdominal migraine
• Abdominal migraine is often associated with attacks of
midline abdominal pain in addition to headaches,
vomiting and facial pallor. Usually there is personal or
family history of migraine. Long periods with no symptoms (e.g. weeks) and shorter period (12-48h) with
pain. Treatment with anti-migraine medication if it causes school absence.

Irritable bowel syndrome

• This is an idiopathic disease with altered GI motility and an abnormal sensation of intra-abdominal events.
These factors are modulated by psychosocial factors such as stress and anxiety. There is often a positive
family history with characteristic symptoms like:
o Non-specific abdominal pain, often peri-umbilical, may be worse before or relieved by defecation.
o Explosive, loose or mucousy stools
o Bloating
o Feeling of incomplete defecation
o Constipation (often alternating with normal or loose stools)
• Some IBS patients have coeliac disease so antibody serology should be checked.
Chronic constipation
• Chronic constipation is a common cause of RAP in children. It leads to colonic distention, gas formation and
painful defecation. There are both functional and organic (myogenic, neurologic, mechanical) forms of
chronic constipation. In patients with functional constipation, there is typically voluntary withholding of
stool.

Peptic acid disease

• Collective term used to include many conditions such as gastro-esophageal reflux disease (GERD), gastritis,
gastric ulcer, duodenal ulcer, esophageal ulcer, Zollinger Ellison Syndrome (ZES) and Meckel's diverticular
ulcer.
• Peptic ulceration
o This is the formation of an erosion in a segment of the GI mucosa, typically in the stomach or the
first few centimetres of the duodenum, that penetrates through the muscularis mucosae. Nearly all
ulcers are caused by Helicobacter pylori infection or NSAID use.
o Clinical features: burning epigastric pain which wakes patient up at night and radiates to the back.
This pain is worse on awakening or before meals. May have nausea and haematemesis. Usually
there is a positive history in 1st degree relative.
o H. Pylori is proved with gastric antral biopsies, 13C breath test and presence of H. Pylori antigen in
stools. Upper endoscopy will prove gastric/duodenal ulcers. (If there are no abnormalities with
endoscopy then the diagnosis of functional/non-ulcer dyspepsia is put.)
o Treatment: PPI e.g. Omeprazole; Antibiotics e.g. Amoxicillin with Metronidazole or Clarithromycin.

Functional (non-ulcer) dyspepsia

• Sensation of pain or discomfort in the upper abdomen in patient with no abnormalities with upper
endoscopy→ Said to be a variant of IBS.
• Symptoms: pain with early satiety, postpranidal vomiting, delayed gastric emptying due to gastric motility.
• Difficult to treat. Some children respond to hypoallergenic diet

Eosinophilic oesophagitis
• Inflammatory disease of esophagus due to activation of eosinophils within the mucosa and submucosa.
Assumed to be linked to allergy – more common in children with atopy.
• Presents with pain, vomiting and dysphagia.
• Diagnosis: upper endoscopy shows trachealisation of the oesophagus (rings inside the esophagus similar to
rings of tracheal cartilage). Biopsy shows infiltration of eosinophils.
• Treatment: swallowed corticosteroids e.g. Fluticasone and Budesonide.

Gastroenteritis
• Etiology:
o Viruses: Rotavirus (upto 60% of cases in <2 year olds), Adenovirus, Norovirus, Calicivirus,
Coronavirus and Astrovirus
o Bacteria: Campylobacter jejuni (most common), Shigella, Salmonella, Cholera and Enterotoxigenic
E. Coli. Bacterial infection typical for developing countries – ask about recent travel.
o Protozoan parasites: Giardia and Cryptosporidium
• Symptoms: sudden change to loose or watery stools accompanied by vomiting. Blood and pus in stools with
tenesmus for Shigella and Salmonella. Profuse and rapidly
dehydrating diarrhoea with enterotoxigenic E.Coli and
Cholera.
• Dehydration leading to shock is the most serious
complication. Infants have the greatest risk due to greater
surface area to weight ratio which leads to greater
insensible water losses as well as immature renal tubular
reabsorption. Dehydration is assessed by measuring the
degree of weight loss during the diarrheal disease.
• Diagnosis: stool culture if child appear septic. Plasma
electrolytes, urea, creatinine and glucose. Blood culture.
 • Treatment:
o Fluids:
▪ No signs of dehydration—> encourage fluid intake to compensate for GI losses and
supplement with oral rehydration solutions (ORS)
▪ Signs of clinical dehydration (loss of 5-10% of BW)—> start with ORS, if no improvement
then give IV fluids (0.9 NaCl w/ or w/o 5% glucose) over at least 48h to limit cerebral
oedema. Monitor electrolytes.
▪ Signs of shock (Loss of >10% of BW)—> IV fluids. Monitor electrolytes.
o Antidiarrhoeal drugs—> Loperamide
o Antibiotics—> usually only indicated if there is suspected sepsis, patient is <6 months old,
malnourished or immunocompromised, or for specific bacterial or protozoan infection.
Metronidazole/Tinidazole for Giardia. Trimethoprim-sulfamethoxazole for E. Coli.
Amoxicillin/Ceftriaxone/Trimethoprim-sulfamethoxazole for Salmonella.
• Anti-rotavirus vaccine available for prophylaxis

Dumping syndrome (aka Rapid Gastric Emptying Syndrome)

• It occurs after some surgery of the stomach. The clinical presentation of dumping syndrome can be divided
into GI symptoms and vasomotor symptoms.
o GI symptoms include early satiety, crampy abdominal pain, nausea, vomiting, and explosive
diarrhea.
o Vasomotor symptoms include diaphoresis, flushing, dizziness, palpitations, and an intense desire
to lie down.
• Treatment: Dietary prohibitions and instructions: Daily energy intake is divided into 6 meals. Fluid intake
during and with meals is restricted. Avoiding liquids for at least half an hour after a meal is helpful. Simple
sugars are best avoided. Milk and milk products are generally not tolerated and should be avoided.

Other important causes:

• Coeliac disease, Inflammatory bowel disease, Cow’s milk protein intolerance, Carbohydrate malabsorption,
Lactose intolerance, UTI (dull suprapubic or flank pain with dysuria and enuresis), Urolithiasis (renal colic
from flank to inguinal region), Cholelithiasis (RUQ pain worse with fatty meals), Dysmenorrhea, Ovarian
cysts, Pelvic inflammatory disease etc.
24. Malabsorption

Disorders affecting the digestion or absorption of nutrients manifest as:

• Abnormal stools
• Poor weight gain or faltering growth in most cases but not all cases
• Specific nutrient deficiencies, either singly or in combination

Causes of malabsorption
• Due to digestive failure
o Pancreatic insufficiency —> cystic fibrosis, chronic pancreatitis and carcinoma of pancreas
o Bile salt insufficiency —> obstructive jaundice and pseudo-obstruction due to bacterial overgrowth
• Due to structural defects
o Inflammatory bowel diseases e.g. Crohn’s disease (damages terminal ileum leading to impaired bile
acid and vitamin b12 absorption)
o Gastrectomy and gastro-jejunostomy—> lack of intrinsic factor for vitamin B12 absorption
o Short bowel syndrome
o Post-radiation syndrome
• Due to mucosal abnormality
o Coeliac disease
o Specific transport defects e.g. glucose-galactose malabsorption and Acrodermatitis enteropathica
o Food allergy and intolerance e.g. milk protein intolerance
• Due to enzyme deficiencies
o Lactose intolerance
• Due to impaired transport
o Abetalipoproteinemia (Bassen-Kornzweig syndrome)—> defect in microsomal triglyceride (TG)
transfer protein, a protein critical to chylomicron and very-low-density lipoprotein (VLDL)
formation
o Intestinal lymphangiectasia
• Due to infective agents
o Whipple’s disease, Intestinal TB, Tropical sprue, Giardia lamblia and HIV

Cholestatic liver disease or biliary atresia

• Bile salts no longer enter duodenum in the bile. This leads to defective solubilisation of the products of
triglyceride hydrolysis. Fat and fat-soluble malabsorption results (lack of vitamins ADEK).

Exocrine pancreatic dysfunction

• E.g. Cystic fibrosis
• Absent lipase, proteases and amylase lead to defective digestion of triglyceride, protein and starch.
Therefore there is pan-nutrient malabsorption

Lymphatic leakage or obstruction

• E.g. lymphangiectasia (abnormal lymphatics)
• Chylomicrons containing absorbed lipids are unable to reach the thoracic duct and systemic circulation. This
results in fat malabsorption.

Small intestinal mucosal disease

Loss of absorptive surface e.g. Coeliac disease
• Coeliac disease is the most common genetically related food intolerance, worldwide. It is a multifactorial,
autoimmune disorder that occurs in genetically susceptible individuals (Class II HLA – DQ A1/DQ B1). It is
triggered by the gliadin fraction of gluten and other prolamins present in wheat, rye and barley. The disease
primarily affects the small intestine→ progressively leads to flattening of the small intestinal mucosa
• This results in absent lipase, proteases and amylase which lead to defective digestion of triglyceride, protein
and starch => pan-nutrient malabsorption
• Symptoms: profound malabsorption syndrome at 8-24 months of age after introduction of wheat-containing
foods. Faltering growth, abdominal distention and buttock wasting, abnormal stools (foul smelling) and
general irritability.
 • Diagnosis: serological screening tests for anti-tTG A (immunoglobulin A against tissue transglutaminase),
EMA Ig G (endomysial antibodies) and anti-DGP Ig G (deamidated gliadin peptides antibodies). Duodenal
biopsy which shows increased intraepithelial lymphocytes and villous atrophy.
• Treatment: gluten-free diet for life. Non-adherence leads to risk of micronutrient deficiency and bowel
malignancy e.g. small bowel lymphoma.

Specific enzyme defects

• Lactose intolerance
o Autosomal-recessive disease (C—>T-13910)) – defect in lactase enzyme so no digestion of lactose
into glucose and galactose. Instead the lactose is digested by bacteria which produce fatty acids,
carbon dioxide, hydrogen and methane.
o Presentation: Loose stools, Abdominal bloating and pain, Flatulence, Nausea and Borborygmi
(rumbling or gurgling noises made by the moving fluid and gas in the intestines)
o Investigations:
▪ Breath hydrogen test → Lactose intolerant people are GASSED!
▪ Stool pH < 5,5
▪ Lactose tolerance test —> measure serial blood glucose levels after an oral lactose load. A
fasting serum glucose level is obtained, after which 50g of lactose is administered. Measure
the serum glucose level at 0, 60 and 120 minutes. Lactose intolerance will not result in a
rise in serum glucose.
▪ Genetic testing.
o Treatment: Infants have to received lactose-free formula. Advise patients to reduce or restrict
products containing lactose.
• Transient lactose intolerance is seen following acute gastroenteritis

Specific transport defects

• Glucose-galactose malabsorption—> this presents with a severe life-threatening diarrhoea with first milk
feed.
• Acrodermatitis enteropathica —> results in zinc malabsorption with erythematous rash around mouth and
anus.

Short bowel syndrome

• Occurs when an infant or child has had a large surgical resection. This may be due to congenital atresia,
necrotising enterocolitis, malrotation with volvulus or a traumatic event e.g. road traffic accident.
• Depending on the length and the type of residual bowel (ileum or jejunum) and presence of ileocecal valve,
these children may develop malabsorption, diarrhoea and malnutrition.

Loss of terminal ileal function

• E.g. resection or Crohn’s disease
• This results in absent bile acid and vitamin B12 absorption.

Cow’s milk intolerance

• It is IgE-mediated or non-IgE-mediated allergic reaction following ingestion of breast milk or formula milk.
• IgE mediated allergy—> the reaction usually occurs within minutes to 2 hours of milk ingestion. If mild:
urticaria, itchy skin and facial swelling. If severe: wheeze, stridor, abdominal pain, vomiting and
shock/collapse.
• Non-IgE mediated allergy—> Poor appetite, poor weight gain, and intermittent abdominal pain
• Diagnosis: Take a detailed history and full patient examination. Skin test responses to cow's milk and
detection of food-specific immunoglobulin E (Ig E) antibodies are usually positive in children with Ig E-
mediated food allergy. Non-IgE allergies are difficult to diagnose – may do endoscopy and biopsy to prove
eosinophilic infiltration. Gold standard investigation is double blind placebo controlled food challenge
which is performed in hospital with gradual increase in intake of food or placebo.
• Treatment: avoidance of milk. If mild, use antihistamine. If severe, carry EpiPen. However most children will
grow out of this intolerance.
INVESTIGATIONS
• FBC, urinalysis and electrolytes, creatinine, albumin, total protein, Ca, Phosphate, liver function tests, iron
status, coeliac antibody screen, coagulation screen and stool testing
• Upper GI endoscopy with biopsy
• Sweat test
• Immune function tests
• Faecal fat measurement/elastase/alpha-1 antitrypsin activity

TREATMENT
• Treat underlying disease
• Supplemental digestive enzymes e.g. pancreatic enzymes in CF
• Nutritional supplements to correct deficiencies
• Parenteral nutrition if malabsorption is severe or slow to recover
25. Chronic non-specific diarrhoea. Inflammatory bowel disease

CHRONIC NON-SPECIFIC DIARRHOEA

• Aka toddler diarrhoea is the most common cause of persistent loose stools in preschool
children (6 months to 5 years). Chronic diarrhoea persists for >14 days.
• Unknown cause but may be due to maturational delay in intestinal mobility which leads to
intestinal hurry→ Loose stools are not due to malabsorption.
• Stools are sometimes well formed and sometimes explosive and loose.
• Affected children are well and thriving.
• Clinical presentation:
o Colicky intestinal pain
o Increased flatus
o Abdominal distension
o Loose stools with undigested food
o Child is otherwise well and thriving
o Examination and investigations are normal
• Investigation:
o Assess weight, height and head circumference. Abdominal and rectal examination.
Fresh stool sample.
• Treatment:
o Reassurance
o Diet changes: increase fat intake, normalise fibre and fluid intake and decrease
milk/fruit juice/surgary drinks.
o Loperamide used in cases without response

INFLAMMATORY BOWEL DISEASE

• This is an idiopathic disease caused by dysregulated immune response to host intestinal
microflora.
• 2 types of IBD:
o Crohn disease (CD) – (more common)
o Ulcerative colitis (UC)
• Three characteristics define the etiology of inflammatory bowel disease:
o Genetic predisposition;
o An altered, dysregulated immune response;
o An altered response to gut microorganisms.
• However, the triggering event for the activation of the immune response in IBD has yet to
be identified.

Crohn’s disease
• This form of IBD can affect any segment of the gastrointestinal tract from the mouth to the
anus. It is a transmural inflammatory disease which can be focal, subacute or chronic.
There are skip lesions (regions of inflamed bowel are interspersed with regions of
unaffected bowel). Commonly affects the distal ileum and proximal colon. There periods of
acute inflammation I.e. relapse and periods of remission. Following acute inflammation
there is formation of fissures, strictures and fistulae with adjacent loops of bowel, skin,
vagina or bladder.
• Clinical presentation:
o Growth failure
o Puberty is delayed
o General ill health: Fever, lethargy and weight loss
o Classic presentation (25%): abdominal pain, diarrhoea and weight loss
 o Extra-intestinal manifestations: oral lesions or perianal skin tags, uveitis, arthralgia
and erythema nodosum
Ulcerative colitis
• Recurrent inflammatory and ulceration disease involving the mucosa of the colon only.
• Clinical presentation: rectal bleeding, diarrhoea and colicky pain. Weight loss and growth
failure may occur but less common than CD. Extraintestinal complications – erythema
nodosum and arthritis.

Diagnosis of IBD
• GI endoscopy, МRI-enterography, Enteroscopy, Video-capsule enteroscopy and Double-
balloon enteroscopy.
• Biopsy shows non-caseating epitheloid cell granulomata for CD whereas there is crypt
damage and ulceration with UC.
• Investigations: No laboratory test is specific enough to adequately and definitively establish
the diagnosis of IBD. Inflammatory markers: Leukocytosis, Anemia, Thrombocytosis, ESR,
CRP and Calprotectin.
o Antibodies important for IBS: pANCA (Perinuclear antineutrophil cytoplasmic
antibodies), ASCA (anti-Saccharomyces cerevisiae antibodies) and ANA (anti-Nuclear
antibodies)
▪ pANCA (-) and ASCA (+) have high specificity for CD
▪ pANCA (+) and ASCA (-) have high specificity for UC

Treatment
• CD:
o Nutritional therapy I.e. whole protein modular feeds (polymeric diet) for 6-8 weeks
o Systemic steroids
o Immunosuppressants to prevent relapse e.g. methotrexate, azathioprine or
mercaptopurine. Anti-TNF therapy.
o Long term enteral nutrition in case of growth failure
o Surgery to correct complications e.g. obstruction, fistulae and abscess
• UC:
o Aminosalicylates for induction and maintenance therapy in mild disease
o Topical steroids if confined to rectum and sigmoid colon.
o Systemic steroids for acute exacerbation
o Immunomodulatory therapy with/without low dose steroids to
maintain remission. If not effective use biological therapy e.g.
Ciclosporin
o Colectomy with ileostomy or ileorectal pouch is indicated for
severe fulminating disease.

TRANSMURAL

Grain field= Epitheloid

GRANuloma (non-
caseating) Ask (ASCA) for the CROWN (Crohn) Prince!
26. Constipation

• This is the infrequent passage of dry, hardened faeces often accompanied by straining or pain and bleeding
• Normal frequency of defecation: 1st week of life – 4x/day and by 1 year of age 2x/day.
• Breast fed infants may not pass stools for several days and be entirely healthy.
• Etiology
o Organic causes: Hirschsprung’s disease, anal disease (infection, stenosis, fissure and hypertonic
anal sphincter), coeliac disease, spinal cord injury, tumour masses, chronic dehydration e.g.
diabetes insipidus, hypothyroidism, hypercalcaemia, food hypersensitivity, drugs (anticholinergics
and opiates) etc.
o Functional causes I.e. voluntary withholding of stool—> Lack of privacy, insufficient water intake,
uncontrolled pain with defecation (anorectal, bone or cancer pain), sexual abuse etc
• Clinical presentation:
o Straining and/or infrequent stools
o Anal pain on defecation
o Fresh rectal bleeding (anal fissure)
o Abdominal pain
o Anorexia
o Involuntary soiling or spurious diarrhoea (liquid faeces
passes around solid impaction)
o Flatulence
o Decreased growth
o Abdominal distension
o Palpable abdominal or rectal faecal masses
o Abnormal anal tone w/DRE (DRE is not usually
indicated)
o RED FLAG SYMPTOMS
• Investigations:
o FBC, coeliac antibody screen, thyroid function tests,
serum Ca, RAST testing, abdominal x-ray, rectal biopsy
(for Hirschsprung’s disease), anal manometry, spinal
imaging (for neurological causes)
• Treatment
o Encourage adequate oral fluid intake
o Encourage good toileting habits
o Medication:
▪ Disimpaction (emptying the rectum)—> give stool softener e.g. Polyethylene glycol 3350 and
electrolytes for 1-2 weeks. If not effective then add stimulant laxative e.g. Sodium
picosulphate and senna or osmotic laxative e.g. lactulose.
▪ Maintenance—> this ensures ongoing pain-free defectation e.g. Polyethylene glycol with or
without stimulant laxative for minimum of 6 months.
o Last resort: enemas e.g. Micralax or phosphate enemas

Different classes of constipation medications exist→ Stool softners, Bulk laxatives (↑ in fibre content), Osmotic
laxative(attract water to colon to help passage), stimulants (muscle contractions which cause stool to pass)
27. Chronic liver diseases
These are liver diseases which last more than 6 months.
• Etiology: Chronic hepatitis (after viral hepatitis B, C and D), biliary tree
disease (e.g. biliary atresia), toxin-induced (e.g. paracetamol, alcohol),
alpha-1 antitrypsin deficiency, autoimmune hepatitis, Wilson’s disease,
Cystic Fibrosis, Alagille syndrome or non-syndrome paucity of bile ducts,
tyrosinaemia, primary sclerosing cholangitis, parental nutrition-induced
and Budd-Chiari syndrome.
• Clinical presentation—>

Alpha-1 antitrypsin deficiency

• Autosomal recessive disorder. There is impairment the protease inhibitor
(Pi) gene. People with the PiZZ phenotype will have abnormal folding of
the protein alpha-1 antitrypsin which accumulate in hepatocytes leading to liver disease.
• Symptoms: prolonged neonatal jaundice and bleeding due to low vitamin K. Hepatosplenomegaly,
cirrhosis and hypertension. Pulmonary emphysema in adulthood.
• Dx: low plasma alpha-1 antitrypsin and enzyme isoelectric focusing for PiZZ phenotype.
• Treatment: supportive treatment for liver complications, avoid smoking. Liver transplantation for end-
stage liver failure.

Galactosaemia
• Rare disorder characterised by the lack of galactose metabolism.
• Symptoms: poor feeding, vomiting, jaundice and hepatomegaly when fed milk. Liver failure, cataracts and
developmental delay are inevitable if untreated.
• Dx: measuring enzyme galactose-1-phosphate uridyl transferase in RBC. Galactose in urine.
• Treatment: galactose-free diet

CHRONIC HEPATITIS
Presents as fatigue, malaise, loss of appetite and occasional bouts of jaundice. Large tender liver and some will have
splenomegaly.
Viral hepatitis
• There are 5 types of viral hepatitis (Hepatitis A-E) but only HBV, HCV and HDV causes chronic hepatitis.
• Dx: LFT (high enzymes), FBC, DBC, detection of HBV antigens or antibodies via serology or PCR
• Hepatitis B virus
o This is a DNA virus which causes acute and chronic hepatitis. High prevalence in Sub-Saharan Africa.
o Transmission: vertical (perinatal), horizontal (breast-feeding), parenteral (transfusion) and sexual
o Infants who contract HBV perinatally are asymptomatic but at least 90% will become chronic
carriers (HBsAg in the serum). Older children who contract HBV will be asymptomatic or have
features of acute hepatitis but 5-10% will become chronic carriers.
o Approx 30-50% of asymptomatic carrier children will develop chronic HBV liver disease which may
progress to cirrhosis in 10%. There is a long term risk of hepatocellular carcinoma.
o Treatment of chronic HBV: interferon or pegylated interferon, oral antiviral therapy e.g. lamivudine,
adenovir.
o Prevention: antenatal screening for HBsAg in pregnant women. Babies of all HBsAg-positive mothers
should receive course of HBV vaccination course with/without Hep B immunoglobulin.
• Hepatitis C virus
o This is a RNA virus. High prevalence in IV drug abusers.
o Transmission: vertical (6% of transmissions from infected mothers but twice as common if there is
confection with HIV)
o Majority of infected children will be chronic carrier. 20-25% risk of cirrhosis or hepatocellular
carcinoma.
o Treatment: not undertaken before 3 years of age as HCV may resolve spontaneously following
vertically acquired infections. Interferon A +/- Ribavarin.
• Hepatitis D virus —> A defective RNA virus that depends on HBV for replication. It occurs as coinfection with
HBV or as a superinfection causing an acute exacerbation of chronic HBV infection.
o Cirrhosis develops in 50-70% of those who develop chronic HDV infection
Autoimmune hepatitis and sclerosing cholangitis
• Mean age presentation is 7-10 years. More common in girls.
• Autoimmune hepatitis:
o May present as acute hepatitis, fulminant hepatic failure or chronic liver disease with autoimmune
feature like skin rash, arthritis, haemolytic anaemia or nephritis.
o Dx: elevated total protein, hypergammaglobinemia (IgG >20 g/l), positive autoantibodies (anti-
smooth muscle, anti-nuclear antibodies and liver-kidney microsomal antibodies), low serum
complement (C4) and typical histology.
• Sclerosing cholangitis:
o Fatigue, Pruritus, jaundice, upper abdominal pain, malabsorption of fat and fat soluble vitamins
(osteoporosis, bleeding and steatorrhea), gallstones/bile duct stones.
o Dx: US, magnetic resonance cholangiopancreatography (MRCP) and endoscopic retrograde
cholangiopancreatography (ERCP). Anti–smooth muscle antibodies and pANCA are positive.
Antimitochondrial antibody is characteristically negative. Liver biopsy.
• May be in isolation or with inflammatory bowel disease, coeliac disease and other autoimmune disease.
• Treatment: Prednisolone and Azathioprine for autoimmune hepatitis. Ursodeoxycholic acid for sclerosing
cholangitis.

Cystic fibrosis
• Liver disease is the 2nd most common cause of death after respiratory disease. Typically presents as hepatic
steatosis (fatty liver), protein malabsorption and biliary fibrosis (due to abnormal bile concentration).
Cirrhosis and portal hypertension occurs in 20% of children in mid-adolescence. Dx: sweat test. Family
history.
• Treatment of liver complications involves Ursodeoxycholic acid endoscopic treatment of varices and liver
transplantation.

Wilson disease
• Autosomal recessive disorder. Mutations in ATP7B gene result in a combination of reduced synthesis of
ceruloplasmin (copper binding protein) and defective excretion of copper in the bile which leads to an
accumulation of copper in the liver, brain, kidney and cornea. Rarely presents in children <3 years
• Sx: In childhood—>acute hepatitis, fulminant hepatitis, cirrhosis and portal hypertension. Kayser-Fleischer
rings (copper in cornea). From 2nd decade—> neuropsychiatric problems like change in school performance,
behaviour/mood changes, ataxia, tremor and dysarthria. Renal tubular dysfunction with vitamin D resistant
Rickets.
• Dx: low serum copper and ceruloplatsmin. Increased 24h urinary copper excretion. Molecular genetic
testing to prove mutation. Liver biopsy shows copper deposits. Slit-lamp examination for Kayser-Fleischer
rings
• Treatment: lifelong chelation therapy with Penicillamine. Zinc to decrease copper absorption. Pyridoxine to
prevent peripheral neuropathy. Liver transplantation for end-stage liver failure.

Fibropolycystic liver disease (ciliopathies)

• Group of inherited conditions affecting the development of the intrahepatic biliary tree.
• Presents with liver cystic disease or fibrosis with cystic renal disease.
• Sx: hepatosplenomegaly, abdominal distension and portal hypertension.
• Dx: LFT are normal in early stage. Liver biopsy shows fibrosis and abnormal bile duct ulcers. Abdominal US.
• Treatment: liver transplantation

Non-alcoholic fatty liver disease

• Most common cause of chronic liver disease in high income world.
• Wide range of presentation: steatosis, steatohepatitis, fibrosis, cirrhosis and end stage liver failure.
• May be associated with metabolic syndrome or with obesity.
• Sx: asymptomatic or RUQ pain and lethargy.
• Dx: abdominal US, mildly elevated liver enzymes. Liver biopsy – marked steatosis
• Treatment: weight loss through diet and exercise
 28. Cardiac disorders – circulatory changes at birth. Diagnosis

Circulatory changes at birth:

http • At birth the umbilical cord is clamped and the baby no

s:// longer receives oxygen and nutrients from the mother.
ww • In the foetus, the left atrial pressure is low because little
w.y blood returns from the lungs (baby doesn’t use lungs
out due to oxygenated blood from mother). The pressure in
ube. the right atrium is higher than the left as it receives
systemic venous blood including blood from the
co
placenta.
m/
• The flap valve of Foramen ovale is held open to allow
wat
blood from right atrium to left atrium and so it bypasses
ch?
the lungs.
v=
• When the baby is born and takes its first breaths, there
wY
is a decrease in pulmonary resistance and increase pulmonary blood flow. This causes a rise in LA pressure
NY
and fall in RA pressure. This pressure difference causes flap valve of foremen ovale to close.
7V
• Ductus arteriosus, which connects the pulmonary artery to the aorta in fetal life, closes within first few
pZI
hours/days of life to form the remnant Ligamentum arteriosum.
PY
• Ductus venosus, which connects the umbilical vein to the inferior vena cava. It allows oxygenated blood
from the placenta to bypass the liver. Closure is by the first week of life and leaves a remnant called
Ligamentum venosum.
• Changes in cardiac output:
o Total Fetal cardiac output:
▪ Combined output of the left and right ventricles is approx 450 ml/kg/min (65% of
descending blood flow returns to the placenta; the remaining 35% perfuses fetal organs and
tissues.)
o Newborn cardiac output:
▪ Approx 350 ml/kg/min
▪ 1st 2 months approx 150 ml/kg/min and then gradually increases to normal adult C.O.: 75
ml/kg/min.
• Newborn pulse rate:
o <1yr old: 110-160 bpm which is necessary to keep up with high metabolic demand of thermogenesis,
feeding, breathing etc
o 2-5 years: 95-140 bpm
o 5-12 years: 80-120 bpm
o >12 years: 60-100 bpm

Diagnosis
• Antenatal diagnosis
o Screening at 18 and 20 weeks of gestation can reveal congenital heart defects of the fetal heart.
Fetal echocardiography
o If there is a family history or previous child with congenital heart defect—> strong indication for
screening
o Early diagnosis allows parents to choose termination of pregnancy
• History —> determine age, onset and nature of symptoms, prenatal and natal period, developmental history
(age of walking, talking etc), family history (hereditary diseases), allergies, medications etc
• General assessment of the patient is always the first part of the examination with specific attention:
o Cyanosis (nail beds, lips, tongue and other mucous membranes)
o Poor growth/failure to thrive
o Chest wall abnormalities
o Evidence of respiratory distress e.g. use of accessory muscles, retractions etc
o Observe any presence of thrill
 • Physical examination
o Measurement of height and weight—> used to determine if there is poor growth
o Cyanosis e.g. patent ductus arteriosus (PDA) will present with differential cyanosis—>blue lower
extremities and pink upper extremities→ ↓oxygenation of blood in distal aorta compared with
proximal aorta (Before the left subclavian artery)→ Patient also have clubbing on toes but not the
finger nails!!
o Hepatomegaly and occasionally splenomegaly
o Peripheral oedemas (sign of heart failure)
o Evaluate character of pulses e.g. large bounding pulses (feel like palpitation) are seen in PDA
o Blood pressure—> measure in all 4 limbs
o Auscultation of the heart sounds—> assess
if with sinus rhythm or arrhythmia and
determine heart rate and presence of
murmurs. Must note the characteristics of
murmurs:
▪ Loudness: according to grades I-IV
▪ Timing in the cardiac cycle: diastolic,
systolic, early, mid or late
▪ Pitch: high or low
▪ Quality: blowing, musical or rough
▪ Location where best heard
▪ Radiation
• Investigations:
o Chest x-ray—> cardiac size (cardiothoracic index should <0.55), pulmonary vessel shadows,
pulmonary oedema, associated lung and thoracic anomalies
o ECG—> detect arrhythmias
o Echocardiography with Doppler ultrasound—> assess cardiac structure, kinetics of heart chambers,
stenosis/regurgitation of valves, blood flow, pressure gradients etc. Echocardiography also assists
with implementing pericardiocentesis, balloon atrial septostomy, ASD/VSD closures and endocardial
biopsy.
o MRI/MRA (angiography)—> useful for emulating children with congenital heart diseases
o CT—> especially for evaluating the pulmonary arteries, anomalies in systemic and venous return and
great vessel anomalies e.g. coarctation of the aorta
o Diagnostic interventional Cardiac catheterisation—> indicated for diagnosis of complex congenital
heart lesions, for cases in which other imaging studies are inconclusive, for patients with critical
haemodynamic assessment and for myocardial biopsy (for diagnosis of cardiomyopathy).
o Blood tests—> FBC, electrolytes, urea, creatinine, liver function tests, thyroid function tests and
arterial blood gas.

6-8 weeks before pulmonary vascular resistance to return to normal

Foramen ovale closes completely/permenantly by 3 months
Ductus arteriosus closes permenantly by 4-10 days
Ductus venosus closes 3-7 days ~ 1 week both ductus and artery close up by fibrin
29. Cardiac disorders. Left to right shunts

LEFT TO RIGHT SHUNTS

• Atrial septal defects (ASD), ventricular septal defects (VSD), persistent ductus arteriosus (PDA) and
atrioventricular septal defects (AVSD).

Atrial septal defects (10% of all congenital heart defects)

• Types are:
o Secundum defect→ in the region of the foramen ovale. Most
common ASD.
o Primum ASD→ near the endocardial cushions(AV valve). May
be part of a complete atrioventricular canal defect
o Sinus venosus defect→ least common
• Pathophysiology—> Increased blood flow through the right atrium,
right ventricle, pulmonary arteries and lungs
• Clinical manifestations:
o Rarely symptomatic even with large ASDs and significant
shunts
o Recurrent chest infections/wheeze
o ± prominent left precordium
o ± right ventricular impulse at the left lower sternal border
o Systolic ejection murmur grade I or II in the region of the right ventricular outflow tract (region of
pulmonary valve)
o Fixed split S2 due to overload of the right ventricle with prolonged ejection into the pulmonary
circuit. S2 should normally be split with inspiration and be single with expiration. (↑Venous ret)
o ± mid diastolic murmur at the left lower sternal border if larger shunt (increased volume passing
across the tricuspid valve).
• ECG:
o Right axis deviation and RV hypertrophy
o ± rsR pattern in the right precordial leads (minor right bundle branch block)
• Chest radiography—> Cardiomegaly (cardiothoracic index >0.6), right atrial enlargement and prominent
pulmonary artery
• Echocardiography—> ASD with right sided hypertrophy and increased pulmonary artery pressure
• Treatment:
o Medical management rarely indicated
o Prophylaxis for subacute bacterial endocarditis for non-secundum ASD
o Surgery is indicated if significant shunt is still present at around 3 years of age
▪ Secundum ASD: ASD closure device in the cardiac catheterisation laboratory
▪ Primum and sinus venosus defects: surgical closures
• Prognosis: if without treatment, RHF and arrythmias will occur later in life.

Ventricular septal defects:

• 25-30% of all congenital heart disease
• Types:
o Perimembranous VSD→ 67% of VSD. Found adjacent to the tricuspid valve.
o Muscular VSD→ milder defect which is completely surrounded by muscle.
• Pathophysiology: L—>R shunt leads to increased pulmonary blood flow (depends on the size of the defect
and the pulmonary vascular resistance)→ RV enlargement and hypertrophy later
o The pulmonary vascular resistance normally decreases over the first 6 to 8 weeks of life. This causes
the shunt to increase and thus symptoms develop.
• Clinical manifestations:
o Small VSD→ little shunt has a loud pansystolic murmur at lower left sternal edge
o Moderate to large VSD:
▪ CHF→ fatigue, diaphoresis with feedings, and poor growth.
▪ Pansystolic murmur→ over lower left sternal border ± thrill
▪ Mid-diastolic murmur at apex —> increased flow across the mitral valve
 ▪ Loud P2→ splitting of S2 due to higher pulmonary pressures.
• ECG: Large VSD—> Enlargement of LA/LV and hypertrophy. Positive T wave in V1 if there is pulmonary
hypertension.
• Chest radiograph: Cardiomegaly especially the ventricles. Increase in the pulmonary artery silhouette
• Echocardiography—> shows the defect and pulmonary hypertension
• Treatment:
o Small VSDs will close spontaneously
▪ If they don’t close – prophylactic antibiotics are needed to prevent subacute bacterial
endocarditis
o Moderate to large VSDs:
▪ Initial treatment with diuretics, RAAS inhibitors e.g. Captopril and Digoxin
o Closure of defect→ surgery or devices – if continued poor growth or pulmonary hypertension
despite therapy.

Patent ductus arteriosus

• 5-10% of congenital heart disease
• Normally closes shortly after birth. PDA diagnosis is put when it has not
closed by 1 month after the expected delivery date.
• NB: PDA in a preterm infant is due to prematurity not congenital heart
disease
• Results in blood from aorta entering the pulmonary artery following the
fall in pulmonary resistance after birth.
• Clinical manifestations:
o CHF in moderate to large shunts
o Widened pulse pressure
o Continuous machine-like murmur heard in left infraclavicular
area and thrill may be palpable→ murmur radiates along
pulmonary arteries and well heard over the left back.
o Hyperdynamic precordium→ larger shunts with increased flow over the mitral valve.
o Mid-diastolic murmur at the apex
o Splitting of S2 and Greater intensity of P2→ due to higher pulmonary pressure
• Chest radiography—> Full pulmonary artery silhouette and increased pulmonary vascularity – moderate to
large shunts may result in cardiomegaly
• ECG: Vary from normal to evidence of LV hypertrophy. If pulmonary hypertension is present, there is also RV
hypertrophy
• Treatment:
o Spontaneous closure of a PDA after a few weeks of age is uncommon in full-term infants.
o Moderate and large PDA→ diuretics and digoxin but eventually require closure
o Small PDA→ closure is also recommended because of risk of subacute bacterial endocarditis.
o Closure of PDA→ In cardiac catheterization lab with coil embolization or PDA closure device

Atrioventricular septal defects - AVSD (endocardial cushion defect):

• Abnormal development of the endocardial cushion tissue, resulting in
failure of the septum to fuse with the endocardial cushion.
• Consists of:
o Primum ASD
o VSD
o Clefts in the anterior leaflet of the mitral and septal leaflet of
the tricuspid valves
• Clinical manifestations—> ASD, VSD, AV valvular insufficiency and
severe congestive HF ± murmurs
• Treatment:
o Digoxin and diuretics for treatment of congestive heart failure
o Surgical repair of defect
30. Cardiac disorders right to left shunts

RIGHT TO LEFT SHUNTS

Tetralogy of Fallot
• Most common cyanotic congenital heart defect. 10% of all
congenital heart defects
• Composed of:
o Large VSD
o Pulmonary stenosis → subvalvular or infundibular
o Overriding aorta (in respect to the ventricular septum)
o Right ventricular hypertrophy
• Due to abnormalities in the septation of the truncus arteriosus
into the aorta and pulmonary arteries that occur early in
gestation (3-4 weeks)
• Pathophysiology: As pulmonary stenosis progresses, the amount
of R—>L shunting at the VSD increases also. Patient becomes
more cyanotic with time.
• Usually diagnosed antenatally.
• Clinical manifestations:
o Constant cyanosis. Infants initially may be acyanotic
o Pulmonary stenosis murmur→ loud and harsh systolic ejection murmur. Heard on left sternal edge
from 1st day of life.
o Delayed growth and development
o Clubbing of the fingers and toes
o Squatting upon exercise
• Hyper cyanotic (aka Tet or blue) spells
o Complication of tetralogy of Fallot. Baby is cyanotic, restless, agitated and cries inconsolably.
Toddlers squat during exercise. In severe spells, prolonged unconsciousness and convulsions,
hemiparesis or death may occur. Lasts minutes to hours. If not treated may result in CVA and MI.
• Laboratory→ Polycythemia (high Hct), iron deficiency and low pO2
• ECG→ at older age: right axis deviation and right ventricular hypertrophy
• Chest x-ray—> Boot-shaped heart due to small pulmonary artery and upturned apex of the heart
secondary to right ventricular hypertrophy. Concavity on left border due to smaller pulmonary artery.
• Echocardiography
• Treatment of hypoxic spells:
o O2 administration
o Placing child in knee-chest position (to increase venous return)
o Diazepam or morphine sulfate → for sedation and pain relief
o Phenylephrine→ increase systemic vascular resistance
o Sodium bicarbonate→for severe spells; to correct acidosis
o I.V. Propranolol→ decrease subpulmonary muscle spasm in the heart
• Surgical treatment:
o Complete surgical repair → closure of the VSD and removal or patching of the pulmonary stenosis
can be performed in infancy (approx 6 months).
o Palliative shunt surgery→ shunt between the subclavian artery and pulmonary artery (aka modified
Blalock-Taussig shunt) is performed for complex forms of tetralogy of Fallot with more complete
repair at a later time.
• Subacute bacterial endocarditis prophylaxis is indicated
Transposition of the great arteries:
• 5% of congenital heart defects
• Aorta arises from the right ventricle and is anterior and to the
right of the pulmonary artery which arises from the left ventricle.
This condition is incompatible with life if there is no mixing of the
circulations. Therefore patients with accompanying ASD, VSD or
PDA can be treated.
• Clinical manifestations:
o Cyanosis is always present, not improved by oxygen
o Loud single S2
o Usually no murmur
• ECG→ Right axis deviation and right ventricular hypertrophy
• Chest x-ray: Increased pulmonary vascularity. Cardiac shadow is classically an ‘egg on a string’ or ‘egg on
the side’ created by the narrow superior mediastinum
• Echocardiography→ shows transposition of the great arteries and mixing of blood
• Treatment:
o Prostaglandin E1→ maintain ductal patency
o Balloon atrial septostomy→ to improve mixing between the two circulations
o Complete surgical repair→ switching the aorta (& its coronary.aa) and Pulmonary.a is performed
within the first 2 weeks of life, when the left ventricle still can maintain a systemic pressure.

Eisenmenger syndrome
• This is the consequence of untreated congenital heart diseases with left to right shunts. These diseases
cause high pulmonary blood flow which if left untreated, will result in thickening of pulmonary artery walls
and therefore increased resistance to flow. This decreases the shunt and these children become less
symptomatic. However when these children enter their teenage years,
the shunt reverses and the teenager turns blue – this is Eisenmenger
syndrome. These patients will die of right HF in 4th-5th decade of life.
• Treatment: early therapeutic intervention for left-to-right shunt heart
diseases.
31. Cardiac disorders outflow obstructions

Aortic stenosis
• Partial fusion of the aortic valve leaflets giving a restrictive exit from the left ventricle.
• There may be 1-3 aortic leaflets.
• Usually accompanied with mitral stenosis and coarctation of the aorta
• Clinical features: Asymptomatic murmur but if AS is severe: reduced exercise tolerance, chest pain on
exertion or syncope
• Physical examination:
o Pulsus parvus (↓volume/weak pulse), slow rising pulses – Pulsus tardus
o Carotid thrill (always)
o Ejection systolic murmur – best heard at upper right sternal edge. Radiating to the neck.
o Delayed and soft aortic S2
o Apical ejection click
• CXR: normal or prominent left ventricle. Post-stenotic dilation of of ascending aorta
• ECG: may have LV hypertrophy
• Echocardiography: shows AS and determines pressure gradients
• Treatment:
o Early treatment is palliative
o Interventions:
▪ Balloon valvotomy—> for children with symptoms on exercise or with high resting pressure
gradient (>64 mmHg) across aortic valve. Balloon is expanded to widen the stenosis. Safe in
older children but more risky for neonates.
▪ Aortic valve replacement—> for most neonate and children with significant AS. Initially there
is palliative treatment until child is old enough for surgery.
Pulmonary stenosis
• Pulmonary valve leaflets are partly fused together giving a restrictive exit from the right ventricle
• Clinical features: Asymptomatic but if PS is critical—> cyanosis
• Physical examination:
o Ejection systolic murmur best heard at upper left sternal edge; thrill may be present
o Ejection click best heard at upper left sternal edge
o Severe PS: right ventricular impulse (heave)
• CXR: normal or post-stenotic dilatation of the pulmonary artery
• ECG: RV hypertrophy (upright T wave in V1)
• Treatment: Transcatheter balloon dilatation—> indicated for patients with markedly increased pressure (>64
mmHg) across pulmonary valve.

Adult-type coarctation of the aorta

• Coarctation of the aorta occurs After (Adult) to the Ligamentum arteriosum→ ductus arteriosum is closed
• Uncommon lesion. It gradually becomes more severe over many years.
• Clinical features: asymptomatic, systemic hypertension in right arm, ejection systolic murmur at upper
sternal edge. Collaterals are heard with continuous murmur at the back. Radio-femoral delay (due to blood
by-passing the obstruction via collateral vessels in the chest wall hence the pulse in the legs is delayed)
• CXR:
o Rib notching due to large collateral intercostal arteries running under the ribs posteriorly to bypass
the obstruction.
o ‘3’ sign with visible notch in the descending aorta at site of the coarctation
• ECG: LV hypertrophy
• Treatment: For severe cases, insertion of a stent via cardiac catheter.

Bp in upper limbs > lower limbs

Patient is at ↑↑ risk of
subarachnoid haemorrhages due to
↑ Bp proximal to the narrowing
Coarctation of the aorta – infantile type
• 10% of all congenital heart defects
• This is due to the arterial duct tissue encircling the aorta just at the point of insertion of the duct. When the
duct closes, the aorta also constricts, causing sever obstruction to the LV outflow.
• N.B! Infantile type the coarctation occurs PRIOR (Paediatric) to ductus arteriosus→ Duct is PATENT!!
• The constriction can be discrete or severe.
o Discrete juxtaductal coarctation:
▪ Ascending aortic blood flows through the narrowed segment
to reach the descending aorta.
▪ Left ventricular hypertrophy occurs
▪ In first few days of life, the PDA provides temporary relief
from the obstruction.
▪ Net left-to-right ductal shunting occurs in acyanotic infants.
o Severe juxtaductal coarctation (i.e. transverse arch hypoplasia):
▪ Right ventricular blood is ejected through the ductus to
supply the descending aorta.
▪ Perfusion of the lower part of body is dependent on
right ventricular output.
▪ Ductal right-to-left shunting is manifested as differential
cyanosis→ upper extremities are pink (perfused) and
lower extremities are blue.
• Clinical manifestations
o Infants→ symptoms occur when ductus arteriosus closes approx
2 days after birth
▪ Poor feeding, Respiratory distress and Shock→ develop before 2 weeks of age
▪ Metabolic acidosis
▪ Femoral pulses weaker and delayed compared with radial pulses
▪ Lower BP in lower extremities
▪ No murmur but S3 is present
o Older children:
▪ Usually asymptomatic
▪ Leg discomfort with exercise
▪ Headache
▪ Epistaxis
▪ Decreased or absent lower extremity pulses
▪ Hypertension in upper extremity
▪ Murmur of coarctation – best heard in left interscapular area of back
▪ If significant collaterals have developed, continuous murmur may be heard throughout the
chest
• Imaging and ECG:
o Infants:
▪ ECG and CXR show RV hypertrophy with marked cardiomegaly and pulmonary oedema.
▪ Echocardiography shows site of coarctation and associated lesions
o Older children:
▪ ECG and CXR show LV hypertrophy and mildly enlarged heart.
▪ Rib notching may be seen in children >8 years with large collaterals
• Echocardiography shows site and degree of coarctation, presence of left ventricular hypertrophy, aortic
valve morphology and function.
• Treatment:
o In infants:
▪ IV infusions of prostaglandin E1→ chemically opens the ductus arteriosus
▪ Inotropic agents
▪ Diuretics
▪ Balloon angioplasty especially in critically ill infants
▪ Surgical repair is required.
o In older children:
▪ Surgical repair
Interruption of the aortic arch
• Uncommon congenital heart disease. There is a gap between the ascending
aorta and descending aorta so the cardiac output is dependent on the right-
to-left shunt via the ductus arteriosus.
• It is usually associated with VSD
• Clinical presentation—> shock in neonatal period following ductus arteriosus
closure, absent femoral pulses and absent left brachial pulse.
• Treatment
o Surgical correction is performed in the first few days of life

Hypoplastic left heart syndrome

• In this condition, there is underdevelopment of the entire
left side fo the heart. The mitral valve is small or atretic, the
LV is diminutive, usually there is aortic valve atresia and
aortic coarctation. Right heart is responsible for
pulmonary and systemic circulation whilst the ductus
arteriosus is patent.
• Clinical features: can be detected antenatally. Profound
acidosis and rapid cardiovascular collapse occur following
ductus arteriosus closure. All peripheral pulses are
weak/absent.
• Treatment:
o Maintain ABC, and give prostaglandin infusion
o Surgical repair with Norwood operation
32. Cardiac arrhythmias

• Congenital arrhythmias may occur in structurally normal or abnormal hearts. They may be secondary to
myocardial disease e.g. rheumatic fever, myocarditis or exposure to toxins, drugs or surgery to the heart.
Children with suspected arrhythmia requires a detailed history, examination and ECG. Do echocardiography
to exclude congenital heart disease.
• Sinus arrhythmia is normal in children and is detectable as a cyclical change in heart rate with respiration
there is acceleration during inspiration and slowing on expiration (HR changing by up to 30 beats/min)

Supraventricular tachycardia
• Most common childhood arrhythmia. HR is rapid, between
250-300 beats/min.
• It can cause poor cardiac output and pulmonary oedema.
• Typically presents with symptoms of heart failure in the in
the neonate or young infant.
• It is a cause of hydrops fetalis and intrauterine death
• It is due to re-entry where a circuit of conduction is set up with premature
activation of the atrium via an accessory pathway. Usually involves the AV
node.
• Investigation with ECG:
o There is narrow complex tachycardia of 250-300 beats/min. QRS
complex <0.08 msec
o In case myocardial ischaemia: T wave inversion in lateral precordial
leads
o If Wolf-Parkinson-White syndrome is present: short PR interval and
delta wave
• Treatment:
o Restore sinus rhythm:
▪ Circulatory and respiratory support —> tissue acidosis is corrected; positive pressure
ventilation
▪ Vagal stimulating procedures e.g. carotid sinus massage or cold ice pack to the face (80%
success)
▪ IV adenosine – treatment of choice! This induces a AV block after bonus injection.
▪ Electrical cardioversion with a synchronised direct current shock (0.5-2 J/kg body weight) if
adenosine fails.
o Maintenance therapy:
▪ E.g. Flecainide or Sotalol
▪ Digoxin can be used if there is no overt pre-excitation I.e. delta wave. If there is pre-
excitation combine with propranolol.
o Treatment is stopped after 1 year of age because 90% of children will have no further attacks.
Children with WPW syndrome will be treated with atrial pacing in teenage years. If there is relapse
then percutaneous radio frequency ablation or cryoablation of the accessory pathway is performed

Congenital complete heart block

• Rare condition related to the presence of anti-Ro or anti-La antibodies in maternal serum. These mothers
either have manifest or latent connective tissue disorders. Subsequent pregnancies are often affected.
Antibodies prevent the normal development of the electrical conduction system in the developing heart
with atrophy and fibrosis of the AV node.
• May cause fetal hydrops, death in utero and heart failure in the
neonatal period. However many remain symptom free for many
years, but few become symptomatic with presyncope or syncope.
• Dx: ECG shows dissociation between P waves and QRS complexes
• Treatment: symptomatic children require endocardial pacemaker.
Ventricular tachycardia (Long QT syndrome)
• Associated with sudden loss of consciousness during exercise, stress or emotion, usually in late childhood. If
not recognised, sudden death from ventricular fibrillation may occur.
• Autosomal dominant inheritance and has several phenotypes.
LQS is a channelopathy caused by specific gene mutations.
Abnormalities of the sodium, potassium or calcium channels
lead to gain or loss of function. Anyone with a family history of
sudden unexplained death or a history of syncope on exertion
should be assessed.
• Dx: ECG shows prolongation of QT interval. No P waves, wide
QRS complex and HR is 100-250 bpm. May present as ‘torsade
des pointes’ which are polymorphic ventricular complexes.
• Tx: unsynchronised direct-current cardioversion for ventricular fibrillation.

Atrial fibrillation, atrial flutter, ectopic atrial tachycardia and ventricular fibrillation can occur in children but all are
rare. They are most often seen in children who have undergone surgery for complex congenital heart disease.
33. Infective endocarditis. Myocarditis/cardiomyopathy

Infective endocarditis
• Children with congenital heart diseases (except secumdum ASD) are at risk of infective endocarditis. Also
previous rheumatic heart disease, preceding dental, urinary or intestinal procedures, IV drug abuse, central
venous catheter and prosthetic heart valves.
• Etiology:
o Bacterial IE: staphylococcus aureus (most common acute IE), Streptococcus viridans group (most
common subacute IE), enterococcus and Pseudomonas aeruginosa. HACEK [Haemophilus,
Actinobacillus, Cardiobacterium, Eikenella, Kingella] group
o Non-bacterial IE: viruses, fungi
• Symptoms:
o Fever, anaemia and pallor, dyspnea, malaise, splinter haemorrhages in nailbed, clubbing of fingers
(late sign), necrotic skin lesions, splenomegaly, neurological signs from cerebral infarction, retinal
infarcts, arthritis/arthralgia and microscopic haematuria. Heart failure, new or changing murmurs
and arrhythmias. Embolic phenomena - Roth spots (retinal), petechiae, Osler nodes, and CNS lesion
• Laboratory Tests
o Positive blood culture – low grade bacteremia
o Elevated ESR,
o C-reactive protein
o Leukocytosis
o Immune complexes
o Rheumatoid factor
o Hematuria
o Echocardiographic evidence of valve vegetations
• Therapy
o I.V. Penicillin, Ceftriaxone, Vancomycin, Tienam, Linezolid for 4 to 8 weeks.
o Surgery of valves is indicated
▪ unsuccessful medical treatment
▪ unusual pathogen
▪ myocardial abscess formation
▪ refractory heart failure
▪ serious embolic complications
▪ refractory prosthetic valve disease
• Prophylaxis
o Good dental hygiene and avoid body piercings and tattoos
o Antibiotic prophylaxis for dental treatment or abdominal/urological surgeries where there is risk of
bacteriemia.

Myocarditis
• Acute or chronic infection of the myocardium. Results in inflammatory cell infiltration of myocardium and
myocyte degeneration/necrosis.
• Etiology:
o Viral (e.g., coxsackievirus, mumps, Epstein-Barr virus, influenza, parainfluenza, measles, varicella,
HIV)
o Rickettsiae (e.g., psittacosis, Coxiella,
o Bacterial (e.g., diphtheria, Mycoplasma, meningococcus, leptospirosis, Lyme disease)
o Parasitic (e.g., Chagas disease, toxoplasmosis, Loa loa) → John shagged the cat & got myocarditis
• Symptoms:
o Fever, severe heart failure, respiratory distress, cyanosis, distant heart sounds, weak pulses,
tachycardia out of proportion to the fever, mitral insufficiency caused by dilatation of the valve
annulus, a gallop rhythm, acidosis, and shock.
o Evidence of viral hepatitis, aseptic meningitis, and an associated rash may be present.
▪ In the most fulminant form, death may occur within 1–7 days of the onset of symptoms.
 oThe chest x-ray demonstrates an enormously enlarged heart (dilated cardiomyopathy) and
pulmonary edema.
o The ECG reveals sinus tachycardia, reduced QRS complex voltage, and ST segment and T-wave
abnormalities. Arrhythmias may be the first clinical manifestation
o Onset of congestive heart failure or a sudden onset of ventricular arrhythmias. In these patients, the
acute infectious phase has usually passed and an idiopathic dilated cardiomyopathy is present
• Diagnosis:
o ESR, heart enzymes (creatine phosphokinase, lactate dehydrogenase), and brain natriuretic peptide
(BNP) are elevated
o Serum viral titers
o PCR of ventricular biopsy and serum samples (viral genome
routinely present in cardiac samples yet absent in peripheral
blood)
o Echocardiography - poor ventricular function and often a
pericardial effusion, mitral valve regurgitation, and the absence
of coronary artery or other congenital heart lesions.
o Endomyocardial biopsy - during cardiac catheterization
• TREATMENT
o For severe congestive heart failure or cardiogenic shock
▪ Intravenous immunoglobulin (IVIG) 2 g/kg
▪ Prednisone (2 mg/kg daily, tapered to 0.3 mg/kg daily
over a period of 3 mo)
▪ Antiviral drugs- enterovirus (pleconaril), Epstein-Barr
virus (acyclovir)

Cardiomyopathy
• Primary disorder of the heart muscle. There are 3 types: dilated CM,
hypertrophic CM and restrictive CM.
o Dilated CM is more common in children. Hypertrophic and
restrictive CM are more rare.

Dilated CM Hypertrophic CM Restrictive CM

Etiology Infectious e.g. Sporadic and inherited Infiltrative (e.g. Hurler
coxsackievirus, (AD) syndrome and Pompe
adenovirus, CMV, EBV syndrome), myocardial
etc), metabolic (e.g. hypertrophy, myocardial
diabetes, acromegaly, fibrosis and idiopathic
thyroid diseases), toxic
(e.g. alcohol, iron
overload) and idiopathic
Haemodynamics Decreased systolic Diastolic dysfunction Diastolic dysfunction
function (impaired ventricular
filling)
Treatment Positive inotropes, Beta blockers and calcium Diuretics, anticoagulants,
diuretics, beta-blockers channel blockers corticosteroids and
e.g. Carvedilol, anti- cardiac transplantation.
arrhythmics and
anticoagulants. Cardiac
transplantation
 34. ARTHRTITIS – JUVENILE IDIOPATHIC ARTHRITIS AND RHEUMATIC FEVER

Arthritis: disease that causes painful inflammation and stiffness of the joints.

• Joints are typically swollen or 2/4 of the following signs are present: ↑ local temperature, erythema (redness of
skin and mucous membranes due to hyperaemia;↑ local blood flow), pain and ↓ range of movement.
• 1-5% of children have joint symptoms.
• Monoarthritis (1 joint), oligoarthritis (2–4 joints) and polyarthritis (≥ 5 joints). Gout, septic arthritis,
osteoarthritis and reactive arthritis commonly present as a monoarthritis/oligoarthritis.

JUVENILE IDIOPATHIC ARTHRITIS

The commonest chronic inflammatory joint disease in children and adolescents. Defined as persistent joint swelling
(>6 months duration) presenting in < 16 yrs of age in the absnce of infection or any other define cause.

Classification: clinically based on the # of joints affceted in the 1st 6 months of disease, there are 7 different subtypes
of JIA.

1. Oligoarthritis persistant (49% of JIA cases): age of onset (AOO) is 1-6 yrs, female to male gender ratio (F:M) is
5:1. It affects 1-4 joints, most commonly the knee, followed by ankle and wrists. Patients have swelling, limping
and inability to extend rather than pain. ● ANA(+) with a ↑ risk of chronic uveitis (pain andblurred vision).
2. Oligoarthritis extended (8%): AOO 1-6 yrs. 5F:1M. > 4 joints affected after the 1st 6 months of disease,
assymetrical distribution of the affected joints. ANA (+), chronic uveitis and assymetrical growth.
3. Polyarthritis, rheumatoid factor (RF) negative (16%): AOO 1-6 yrs. 5F:1M. > 5 joints affected (large and small).
Affects joints of the digits, cervical spine and the temperomandibular joint. Low grade fever, uveitis and late
reduction of growth rate. IgM RF negative.
4. Polysrthritis RF posisitve (3%): AOO 10-16 yrs. 5F:1M. Chronic, symmetrically affected both smal and large joints
(> 3months). Marked finger involvement, rheumatoid nodules, morning stiffess and low grade fever. Remain RF
(+) long term; 2 occasions, 3 months apart. Erosions on X-ray.
5. Systemic artritis (9%): AOO 1-10 yrs. Equa F:M. Initially starts as arthralgia and/ or myalgia, then after 6 months
may develop into oligoarthritis or polyarthritis. High daily fever, pink-salmon macular rash on the chest and
trunk. Labs→ Pancytopenia
6. Psoriasis arthrtitis (7%): AOO 1-16 yrs. Equal F:M. Rash before arthritis develops. Asymmetrical distribution of
both large (knees or ankles) and small (metacarpal phalangeal, proximal and distal interphalangeal) joints.
Dactylitis, nail pitting, chronic anterior uveitis and psoriasis.
7. Enthesitis related arthrtis (7%): AOO 6-16 yrs. 1F:4M. Lower limb and large joint arthritis or sacroiliac joint
tenderness with enthesitis (site where the ligament attaches to bone). Acute anterior uveitis, HLA B272 (+).
8. Undifferentiated arthtritis (1%): AOO 1-16 yrs. 2F:1M. Overlapping articular and extra-articular patterns
between ≥2 subtypes (insufficient criteria for sub-classification).

Clinical signs

• Morning joint stiffness. restriction and pain. Night sweats.

• Intermittent limp or deterioration in behaviour or mood.
• Joint swelling due to fluid, inflammation, thickening of the synovium and swollen prearticular tissues.
• Bone expansion from overgrowth
• Inflammatory symptoms; gelling of the joints; stiffness after long periods of rest e.g. car rides.

Complications

• Chronic anterior uveitis.

• Flexion contractures of the joints, due to joint being held in its most comfortable position. Genu valgum
(knocked knees)
• Growth failure: localised overgrowth such as leg length discrepancy and undergrowth, such as micrognathia.
Management/ Treatment

• Regular daily exercises, night splits.

• NSAIDs (Ibuprofen 30-40mg/kg), Diclofenac (1.5-2.5mg/kg)
• Joint-injections with steroids under US guidance.
• Methotrexate: early use reduces joint damage.
• Systemic corticosteroids pulsed IV methylprednisoione (for severe polyarthritis).
• Imumuno therapy e.g. cytokine modulators
• Uveitis is treated with topical steroids and midriatics.

ACUTE RHEUMATIC FEVER

Systemic inflammatory connective tissue disease that develops as a complicatoin to A beta - haemolytic
streptococcus infection. Disease occurs 2-4 weeks (sequelae) after initial infection (usually pharyngitis) with
rheumatologic, cardiac, and neurologic manifestations.

Primary infection occurs in childhood (5-15 yrs), 3F: 1M w/ genetic predisposition.

Clinical signs

Primary infection → latent/ incubation period of ~ 18 days → ARF onset (fever, migratory polyarthritis, carditis,
chorea and malaise). The following Jones criteria are used to diagnose ARF:

• Major manifestations:
o Carditis (50% of ARF cases)
▪ Endocarditis: significant number, valvular dysfunction.
▪ Myocarditis: may lead to heart failure and death.
▪ Pericarditis: pericardial friction rub, pericardial effusion and tamponade.
o Polyarthritis (80%): migratory, painful polyarthritis that affects the ankles, knees and wrists. Tenderness,
redness and swelling. Described as “flitting”, will last <1 week in a joint, but then migrate to another
over the next 1-2 months.
o Chorea (10%): neurological disorder, involuntary movements and emotional lability. Occurs 2-6
monthspost strep throat.
o Erythema marginatum (<5%): uncommon early manifestattuon of a rash on the trunk and limbs; pink
border macules with a faded centre.
o Subcutaneous nodules (rare): painless, pea-sized, hard on the extensor surfaces.
• Minor manifestations:
o Fever
o Polyarthralgia
o History of rheumatic fever
o Raised acute phase reactants, ESR, C-reactive protein and leucocytosis.
o Prolonged P-R interval on the ECG.

Diagnosis: 2 major, or 1 major and 2 minor criteria plus evidence of past group A strep infection e.g. ↑ ASO titre or
anti-streptococcal Abs, or positive throat culture.

*Chronic rheumatic heart - long-term damage from valve fibrosis and mitral stenosis. Sxs often don’t manifest until
late adulthood as aortic, tricuspid or pulmonoary valve diseas.

Management/ Treatment

• Bed rest and anti--inflammatory agents (Aspirin, corticosteroids).

• Limit exercise.
• Symptomatic treatment for heart failure - diuretics and ACE inhibitors.
• Anti-streptococcal antibiotics.
• Recurrence prevention: monthly injections of benzathine penicillin, or oral aryhthromycin.
35. Vasculitis – lupus, dermatomyositis, scleroderma, Henoch-Schonlein purpura, Kawasaki

Vasculitis is inflammation of blood vessels, often with ischemia, necrosis, and organ inflammation. Vasculitis can
affect any blood vessel—arteries, arterioles, veins, venules, or capillaries.

Classification
• Predominantly large vessel vasculitis e.g. Takayasu arteritis
• Predominantly medium sized vessel vasculitis e.g. Kawasaki disease
• Predominantly small vessel vasculitis:
o Granulomatous e.g. Wegener’s granulomatosis
o Non-granulomatous e.g. HSP
• Other vasculitides e.g. polyarteritis nodosa, lupus, dermatomyositis, scleroderma etc

Henoch-Schonlein purpura
• Occurs in ages 3-10 years. M:F =2:1. Peaks during the winter months
and often preceded by upper respiratory infection.
• Unknown cause – excess IgA and disruption in IgG—> immune
complex formation and deposition. Complexes activate complement
and promote small vessel vasculitis
• Symptoms: characteristic symmetrical palpable purpuric skin rash on
extensor surfaces of the extremities and buttocks, arthralgia,
periarticular oedema, colicky abdominal pain (may have
haematemesis, melaena and intussusception), glomerulonephritis
(with macro/microscopic haematuria and mild proteinuria)
• Diagnosis: Based on clinical features and kidney biopsy to prove
crescentic IgA glomerulonephritis (indicated when there is heavy
proteinuria, oedema, hypertension and deteriorating kidney
function)
• Investigations: FBC, renal function, dipstick urinalysis and renal
biopsy
• Treatment: typically has a benign course with resolution within 6 weeks. NSAIDs help with arthritis
symptoms. Corticosteroids for abdominal pain and arthritis.
• Follow-up for assessment of renal function

Systemic lupus erythematosus

• Mainly in adolescent girls and young women. More common in Asian and Black ethnic groups.
• Chronic autoimmune disease characterised by multisystem inflammation and the presence of circulating
autoantibodies particularly against nucleic acids
e.g. anti-dsDNA antibodies.
• Diagnosis is according to the American College of
Rheumatology criteria. SLE is diagnosed if 4 of
the 11 features are presented:
• Investigations: FBC, LFT, renal function, BP
measurement, urinalysis, ANA (99%), dsDNA
(specific but in 40%), rheumatoid factor,
coagulation screen, anticardiolipin and
antiphospholipid antibodies, ESR, CRP is low
unless there is serotisis or infection, C3 and C4
are low in active disease. Haematuria and
proteinuria are indications for renal biopsy
• Treatment:
o Avoid sun exposure and use sunscreen, treat hypertension and minimise CV risks.
o ACE inhibitors for nephroprotection for proteinuria. NSAIDs for musculoskeletal symptoms.
o Hydroxychloroquinine for fatigue, rashes and arthritis
o Prednisolone and steroid-sparing drugs like Azathioprine, Methotrexate and Mycophenolate mofetil.
o Prednisolone and cyclophosphamide for active nephritis
Juvenile Scleroderma
• Hard, tight, inelastic skin and subcutaneous tissue. F:M = 2:1
• Unknown etiology – autoimmune disorder which causes lymphocytic infiltration with collagen accumulation
with fibrosis of skin, subcutaneous tissues and vessels→ Vascular occlusion.
• There are 2 distinct syndromes:
o Localised scleroderma (morphea, linear scleroderma)—> largely limited to the skin
o Systemic sclerosis (SSC or progressive systemic sclerosis – PSS)—> multisystem organ involvement
• Localised scleroderma
o Initial present as single or multiple flesh-coloured or erythematous plaques. They evolve into firm,
waxy, yellow-white skinny lesions with violaceous borders.
o Morphea is the term for indurated hyper/hypopigmented atrophic lesions confined to the skin.
o Linear scleroderma is the term for lesions involving the underlying tissues including bone.
▪ Lesions which cross the forehead to the nose are termed ‘en coup de sabre’. These lesions
may extend down the the brain and be associated with epilepsy.
o Severe growth and cosmetic deformities.
o Arthralgia, synovitis, oligoarthritis and flexion contractures
• Systemic sclerosis—> this can be Diffuse or Limited aka
CREST syndrome
o Raynaud’s phenomenon
o Induration and fibrosis of skin followed by
oedema and inflammation.
o Sclerodactylyl: taut, waxy, shiny, thickened skin
that eventually becomes atrophic. Finger tip
skin may crack (mechanic’s hands)
▪ Symmetrical involvement of the
metacarpal phalangeal (MCP) joint and
metatarsal phalangeal (MTP) joints.
o Facial involvement: pinched nose,
expressionless face and decreased gape
o Telangiectasias
o Joints: stiffness and oligoarthritis
o GIT: dysmotility, malabsorption, wasting, cramps, diarrhoea/constipation
o Pulmonary fibrosis and hypertension
o Myocarditis, pericarditis and arrhythmias
o Renal disease with crises. Common cause fo death.
• Investigations
o FBC, ESR, LFT, renal function, ANA, anti-centromere and anti-topoisomerase antibodies
o CXR, CT, ECG and echocardiography for screening for pulmonary hypertension
• Diagnosis is based on ACR criteria
• Treatment:
o Localised scleroderma—> topical/oral steroids, UV
therapy and methotrexate. Physical therapy.
o Systemic scleroderma:
▪ Skin lesions—> topical/oral steroids, UV
and immunosuppressants (Methotrexate,
Cyclophosphamide, Mycophenolate, and
Cyclosporin). Physical therapy.
▪ Raynaud’s phenomenon—> Cold
avoidance and vasodilators e.g. Calcium channel blockers.
▪ Hypertension and renal crisis—> ACE inhibitors
▪ Gut dysmotility—>Metoclopramide
▪ GERD/acid secretion—> PPI
Juvenile dermatomyositis
• JDM begins insidiously with malaise, progressive weakness
• Autoimmune inflammatory disease of the skin and muscles. Rare and occurs between ages 4-10 years.
• Unknown cause. Infectious and environmental triggers are likely
• Clinical features:
o Insidious onset, rash may precede muscle weakness
o Rash: periorbital oedema with heliotrope discolouration of upper lids, facial rash include nasolabial
folds (unlike SLE), Gottron’s papules: erythematous maculopapular rash over extensor surfaces of
MCP, PIP, elbows and knees; nailfold vasculitis
o Muscles: symmetrical proximal muscle weakness with fatiguability of arms and legs, truncal
weakness (unable to sit up from lying), ‘Gower’s sign’, palatal and respiratory muscle affected in
severe cases with nasal speech, poor swallowing and decreased lung volume
o Arthritis : oligoarthritis (2/3rd of cases) and polyarthritis (1/3rd )
o Lung disease: interstitial fibrosis and pulmonary
vasculitis
• Investigations: FBC - increased muscle enzymes (CK,
AST, LDH and aldolase), ANA, myositis-specific
antibodies (rare in children), ESR, CRP, muscle biopsy,
EMG and MRI
• Diagnosis: based on criteria
• Treatment: corticosteroids. Methotrexate for severe cases. Treatment for 18 months after remission is
induced. Physiotherapy.

Kawasaki disease
• Affects children of 6 months to 5 years of age. Younger infants are more severely affected compared to older
children. More common in children of Japanese descent
• It is a systemic vasculitis with coronary arteritis. This is complicated by coronary artery aneurysms, coronary
thrombosis, myocardial infarction an dysarrhythmias.
• Diagnostic criteria:
o Fever (>38.5oC) present for at least 5 days without other explanation, in the presence of 4 of the 5
following criteria:
▪ Bilateral congestion of the ocular conjunctivae
▪ Changes of the lips and oral cavity with at least one of the following: dryness, erythema,
fissuring of lips, strawberry tongue, diffuse erythema of oral and pharyngeal mucosa without
discrete lesions.
▪ Changes of the extremities with at least one of the following: erythema of palms and soles,
indurative oedema, periungual desquamation of the fingers and toes
▪ Polymorphous exanthem/rash
▪ Non-suppurative cervical lymphadenopathy >1.5 cm
• Investigations:
o FBC: normocytic normochromic anaemia
o DBC: leucocytosis, thrombocytosis
o ESR and CRP are elevated
o LFT: increased liver transaminases
o ECG
o Urinalysis: monocytes in urine
o Echocardiography: pericardial effusion, poor contractility,
endocardial disease (valve regurgitation) or coronary disease with aneurysm formation which can be
giant (>8 mm in diameter). If coronary arteries are abnormal then angiography or MRI is required.
o Serology: ANA, rheumatoid factor
• Treatment:
o IV immunoglobulin —> should be administered within first 10 days to lower risk of coronary
aneurysms
o Aspirin to reduce thrombosis
o Persistent cases: corticosteroids, infliximab (mAb against TNF-alpha) or cyclosporin
36. Urinary tract infection. Urinary tract obstruction

URINARY TRACT INFECTIONS (UTI)

• More common in girls than boys due to shorter urethra. Up to 30% of children will have recurrent UTIs.
• UTI in childhood is important because:
o Up to half of patients have a structural abnormality of their urinary tract
o Pyelonephritis may damage the growing kidney by forming a scar, predisposing to hypertension and
to progressive chronic kidney disease if the scarring is bilateral.
• Clinical presentation
o Younger than 3 months: fever, vomiting, lethargy, irritability, poor feeding, failure to thrive,
abdominal pain, jaundice, haematuria, offensive urine
o 3 months or older and preverbal: fever, abdominal pain, vomiting, poor feeding, lethargy,
irritability, haematuria, offensive urine, failure to thrive
o 3 months or older and verbal: frequency, dysuria, dysfunctional voiding, changes to continence,
abdominal pain, fever, malaise, vomiting, haematuria, offensive or cloudy urine
• Etiology
o Typically from bowel flora—> In girls: 75-90% E. Coli, Klebsiella, Pseudomonas, Proteus and
Enterococcus faecalis. In boys: 50% Proteus and 50% E. Coli
o Adenovirus is important for haemorrhaging cystitis
• Assess the symptoms and signs
o Test urine when an infant or child presents with:
▪ unexplained fever of 38°C or higher…. OR…symptoms and signs suggestive of UTI
o Consider testing urine when an infant or child presents with:
▪ an alternative site of infection, but remains unwell
o Do not test urine when an infant or child presents with:
▪ an obvious alternative source of fever
• Urine collection and testing
o A clean catch urine sample is the recommended method for urine collection
▪ If a clean catch sample is unobtainable, use other non-invasive methods, such as urine
collection pads Do not use cotton wool balls, gauze or sanitary towels to collect urine
o Catheter samples or suprapubic aspiration (SPA) should be used when urine collection is not possible
by non-invasive methods
▪ Where there is a high risk of serious illness, do not delay treatment if a urine sample is
unobtainable
o If the sample needs to be cultured but cannot be cultured within 4 hours of collection - refrigerate it
o In children <3 years: urgent urine microscopy and culture.
o In children >3 years, perform a dipstick test for leukocyte esterase and nitrite.
▪ If both are positive, start antibiotic treatment and if there is risk of serious illness and/or
history of UTI, send a urine sample for culture.
▪ If only nitrite is positive, start antibiotic treatment and send a urine sample for culture.
▪ If only leukocyte esterase is positive, send a urine sample for microscopy and culture. Start
antibiotic treatment for UTI only if there is good clinical evidence of UTI.
• History and risk factors
o Poor urine flow or dysfunctional voiding, Previously suggested or confirmed UTI, Recurrent fever of
uncertain origin, Antenatally-diagnosed renal abnormality, family history of vesicoureteric reflux,
Constipation, Dysfunctional voiding, Enlarged bladder, Abdominal mass, Evidence of spinal lesion,
Poor growth and High blood pressure
• Location of UTI is determined:
o Acute pyelonephritis/upper UTI—> Bacteriuria >105 and fever of 38oC or more OR… Bacteriuria,
abdominal pain/tenderness and fever of <38oC
o Cystitis/ lower UTI—> bacteriuria <103 and symptoms or signs of UTI that are not systemic
• Classification of UTI
o Pyelonephritis —>Pyelonephritis (Damage on parenchyma), Pyelitis (Without damage on
parenchyma) and Xantogranulomatous pyelonephritis (obstruction in lithiasis or resistant to
treatment bacteria)
o Cystitis —> infection of the bladder
 o Non symptomatic bacteriuria —> (+) microbiology with no symptoms especially in girls presents with
enuresis
• Imaging —> Ultrasound of kidneys and urinary tract; Micturating cystouretography (MCUG)
o Imaging is used to assess if UTI is recurrent or atypical
o Recurrent UTI is defined as:
▪ 2 or more episodes of UTI with acute pyelonephritis (upper UTI) or
▪ 1 episode of UTI with pyelonephritis (upper UTI) plus 1 or more episode of UTI with cystitis
(lower UTI)
▪ 3 or more episodes of UTI with cystitis (lower UTI)
o Atypical UTI is defined as any of the following: Seriously ill, Poor urine flow, Abdominal or bladder
mass, Raised creatinine, Septicaemia, Failure to respond to treatment with suitable antibiotics within
48 hours and Infection with non-E. coli organisms.
• Management
o Infants >3 months with upper UTI—> oral/IV antibiotics e.g. cephalosporin or
co-amoxiclav, for 7-10 days
o Infants >3 months with lower UTI—> oral antibiotics for 3 days e.g. Trimethoprim, nitrofurantoin,
cephalosporin or amoxicillin. Re-assess after 24-48 hours. If no improvement an alternative diagnosis
is made, send urine sample for culture to identify presence of bacteria and determine antibiotic
sensitivity (if this has not already been done)

URINARY TRACT OBSTRUCTION

• At any level, starting from urethra to the kidney
1. Primary/inborn—> hydrocalycosis, ectopic ureter, ureterocele, megaureter, obstruction of the bladder neck,
posterior urethral valves and obstructed urethra.
2. Secondary—> trauma, calculosis/urinary tract stones, tumour, surgery and infection

• Hydrocalycosis—> dilatation of the calyces as a result of obstruction at the infundibulum. This can be due to
congenital anomaly, trauma and inflammation. Patient presents with symptoms of hydronephrosis and UTI.
• Fraley syndrome—> an accessory artery which compresses the lower pole of the kidney, mainly in boys.
Presents with antenatal hydronephrosis, tumour in the neonatal period, abdominal or back pain, loin
tenderness, UTI and asymptomatic haematuria after minimal trauma.
• Ectopic ureter—> ureter enters abnormal locations e.g. urethra at bladder neck (35%), urethra-vagina
septum, vagina, cervix, uterus or posterior urethral wall. Clinical picture of contact trickle of urine (in girls),
epididymitis (in boys), UTI symptoms and hydronephrosis symptoms.
• Ureterocele—> cystic dilatation of the terminal ureter, mainly in girls. Can present as hydronephrosis,
vesicoureteric reflux and UTI. Diagnosis: MCUG or IV urogram.
• Megaureter—> occurs as a result of:
o Vesicoureteric reflux
o Obstruction
▪ congenital anomaly (ectopic ureter, ectopic ureterocele)
▪ secondary (neurogenic bladder, urethral calculosis and post-surgery)
o Non-refluxing, non-obstructive
▪ Infection, diabetes insipidus, persistent after surgical correction of vesicoureteric reflux
• Obstruction of the bladder neck—> always secondary – ectopic ureterocele, bladder calculosis and pelvic
tumour.
• Posterior urethral valve – only in boys
o Bilateral hydronephrosis with abnormally large bladder on antenatal ultrasound
o Neonates – poor urinary flow, large palpable bladder
o Infants – uraemia and/or sepsis
o Milder stenosis presents in early childhood with UTI or enuresis
o Dx: catheterisation and MCUG.
• Urethral atresia—> only boys
• Urethral hypoplasia—> only boys. Bilateral hydronephrosis and large bladder
• Obstructed urethra—> in boys: secondary due to catheterisation, trauma, surgery. Presents with poor
urinary flow, dysuria and haematuria. In girls: extremely rare because the location of the urethra protects it
from trauma.
• Urinary tract stones
o Boys are affected more often than girls
o Most common stones are phosphate stones, calcium stones, uric acid stone and oxalate stone.
Cysteine and xanthine stones are rare.
o Formed as a result of:
▪ increased urine concentration of stone-forming substances e.g. hypercalciuria
▪ presence of chemical or physical factors that facilitate stone formation e.g. UTI
▪ Insufficient amount of inhibiting factors – magnesium, citrate
o Causes:
▪ Family history of hypercalciuria, cystinuria, glycinuria, hyperoxaluria and xanthinuria
▪ Hypervitaminosis A and D, medication e.g. allopurinol, furosemide, fluids rich in Ca/oxalate,
hyperparathyroidism etc
▪ Congenital anomalies e.g. pelviureteric junction obstruction and megaureter.
▪ Chronic UTI with Proteus (predisposes to stag horn calculus), Pseudomonas, Klebsiella etc
o Clinical presentation:
▪ Acute severe pain/renal colic, typically irradiating along the path of the ureters to the labia
or scrotum
▪ Haematuria (less frequent compared to adults)
▪ Symptoms of UTI
▪ Dysuria, frequency, urgency and difficulty in passing urine
▪ Accidental x-ray finding
o Diagnosis: clinical features, FBC, U&E (calcium, phosphate, uric acid), dipstick test, urine microscopy
and culture, parathyroid hormone US, plain x-ray, CT, IV urogram
o Treatment: high fluid intake to promote spontaneous passage of stone. If no passage, lithotripsy or
surgery (ureteroscopy and stone extraction). Antibiotics for underlying UTI.
37. Proteinuria

• Proteinuria is defined as excessive urinary protein excretion

• Protein may be found in the urine of healthy children and does not exceed 0.15g/24h.
• Normal urine protein: <30mg/24h
• Microalbuminuria: 30-300g/24h
• Proteinuria: >300mg/24h→ Macroalbuminemia
• Measurement for proteinuria:
o Urinalysis performed by dipstick testing (Normal: <0.2g/L)
o Urinary protein:creatinine ratio in an early morning urine (Normal: <20mg/mmol)
o 24h urinary protein excretion
• Causes of proteinuria:
o Non-pathological (transient)—> Febrile illnesses, After exercise, Orthostatic proteinuria and UTI
o Pathological (persistent)—> Nephrotic syndrome, Glomerulonephritis, Chronic kidney disease (CKD)
and Tubular interstitial nephritis

Nephrotic syndrome
• Comprised of:
o Proteinuria (>3.5g/24h)
o Hypoalbuminaemia (<2.5g/dL)
o Hyperlipidemia (cholesterol >200mg/dL)
o Oedema
• Etiology:
o Primary: congenital nephrotic syndrome, minimal change disease (85%), focal segmental
glomerulosclerosis, membranoproliferative glomerulonephritis, and membranous
glomerulonephritis.
o Secondary: Henoch-Schonlein purpura, SLE, infections e.g. malaria or allergens e.g. bee sting
• Signs:
o Periorbital oedema
o Scrotal or vulval, leg and ankle oedema
o Ascites
o Dyspnea due to pleural effusions and abdominal distension
o Infection e.g. peritonitis, septics arthritis or sepsis due to loss of protective immunoglobulins in the
urine→ Urine may be frothy white indicating lipids in urine
• Investigations: urinalysis/dipstick, urinary protein:creatinine ratio, 24h urinary protein, FBC, plasma albumin
• Steroid sensitive nephrotic syndrome
o Mainly due to minimal change disease (>95%)
o 85-90% of children with nephrotic syndrome, the proteinuria resolves with corticosteroid therapy
(steroid sensitive nephrotic syndrome). These children do not progress to CKD.
o Features suggesting steroid-sensitive nephrotic syndrome: age between 1-10 years, no macroscopic
haematuria, normal BP, normal complement and normal renal function.
• Steroid-resistant nephrotic syndrome
o Accounts for 10-15% of cases.
o Same features as steroid-sensitive nephrotic syndrome only that it is not well treated with steroids.
• Congenital nephrotic syndrome
o Presents in 1st 3 months of life. Rare autosomal recessive condition. High mortality with very severe
proteinuria which is treated with unilateral nephrectomy followed by dialysis. Requires renal
transplantation when child is old enough.
• Treatment
o Management of steroid sensitive nephrotic syndrome: Oral corticosteroids e.g. 60mg/m2/day of
Prednisolone. Then after 4 weeks reduce dose to 40mg/m2 on alternate days for 4 weeks. Then
wean off.
o Management of steroid resistant nephrotic syndrome: first with calcineurin inhibitors (Cyclosporin
or tacrolimus). Diuretics (loop Diuretic), ACE inhibitors and NSAIDs
o Salt restriction
o Antibiotic e.g. oral penicillin V
• Complications of nephrotic syndrome:
o Hypovolemia—> due to oedema there is reduced volume of the intravascular compartment. Body
compensates with sodium retention by the kidneys and peripheral vasoconstriction. Hypovolemia is
presented by low urinary sodium (<10mmol/l) and high haematocrit. Treat with IV fluids and
albumin infusion if severe.
o Thrombosis—> urinary losses of antithrombin III, high haematocrit and increased clotting factors
promotes a hypercoagulable state.
o Infection—> especially with encapsulated bacteria like pneumococcus. Immunise with
pneumococcal vaccine/antibiotic prophylaxis e.g. Penicillin V.
o Hypercholesterolaemia—> not well understood but correlates inversely with serum albumin.
o Acute kidney injury.
• Prognosis
o 30% single relapse, 30% occasional relapses, 30% steroid dependence
o Children with steroid sensitive nephrotic syndrome are prone to relapse.
o Management of relapse: Levamisole, alkylating agents (Cyclophosphamide), calcineurin inhibitors
(Cyclosporin) and immunosuppressants (Mycophenolate mofetil)
38. Haematuria

• Haematuria = blood in the urine I.e. 10 or more RBC per high-power field is abnormal.
o Macroscopic (gross) haematuria: any discoloured urine visible to the human eye I.e. >10 RBC
o Microscopic haematuria: >5 RBC under microscopy in 3 consecutive centrifuged specimen of urine at
least 1 week apart.
• Classification of haematuria:
o Macroscopic or microscopic
o Symptomatic or symptomless/asymptomatic
o Transient or Persistent
• Causes:
o UTI e.g. cystitis, tuberculosis
o Tumour e.g. Wilm’s tumour
o Trauma e.g. accident, catheter
o Inflammation: glomerulonephritis, Henoch Schonlein purpura, IgA nephropathy, polyarteritis nodosa
o Structural: calculi (renal, bladder, ureteric)
o Haematological: coagulation disorders
o Toxins: sulphonamides, NSAID
o Other: genital bleeding, child abuse, menstruation
• DDX of ‘dark urine’—> Haemoglobinuria (dipstick positive but no red cells on microscopy), myoglobinuria,
foods (e.g. beetroot), drugs (e.g. Rifampicin), Urate crystals, Bilirubinuria (obstructive biliary disease) and
External source e.g. menstrual blood.
• Haematuria can be:
o Glomerular—> renal (IgA nephropathy, Alport syndrome, thin GBM disease, post-infectious GN and
MPGN) and multi-system (SLE nephritis, HSP, Wegener syndrome, goodpasture syndrome, HUS)
o Extraglomerular but renal—> pyelonephritis, papillary necrosis , nephrocalcinosis, thrombosis,
malformation and tumour.
o Extrarenal —> cystitis, urethritis, urolithiasis, trauma, coagulopathy, heavy exercise, ureteropelvic
obstruction and ureterocele
• Glomerular haematuria is suggested by brown urine, deformed RBC, casts and proteinuria.
• Lower urinary tract haematuria is usually red and occurs at the beginning or end of the urinary stream, blood
clots and is not accompanied by proteinuria.
• Isolated haematuria (microscopic)
o No other urinary abnormalities, no renal insufficiency and no evidence for systemic disease.
o Incidence (school-aged children): 4-6% single urine examination; 0.5-1% repeated testing over 6-12
months
• Isolated gross recurrent haematuria
o Asymptomatic patient—> IgA nephropathy, Alport syndrome and hypercalciuria
• History:
o UTI: fever, frequency, dysuria
o Renal stones: renal colic
o Sore throat/rashes (post-streptococcal GN)
o Easy bruising
o Trauma
o Family history: haematuria, deafness (Alport’s), sickle cell disease
• Clinical presentation
o Episode of macroscopic haematuria
o Incidental finding of microscopic haematuria
o Family screening and routine urinalysis
• Investigations
o Urine microscopy (with phase contrast) and culture with protein:creatinine rate, protein and calcium
excretion, US, plasma urea, electrolytes, creatinine, calcium, phosphate, albumin, FBC, platelets,
coagulation screen, complement, ASO titre and sickle cell screen.
o For Alport syndrome: Urinalysis of mother’s urine and perform hearing test in infant
• Treatment
o Treat underlying cause e.g. UTI, urinary tract stones
Common causes of haematuria:
Nephritis
• Most common cause of glomerular injury. It is a disturbance of the glomerular structure with inflammatory
cell proliferation
• This leads to oliguria, uraemia/azotemia, haematuria and hypertension
• Causes: post-infectious GN, vasculitis (e.g. HSP, SLE), IgA nephropathy, mesangiocapillary GN, Goodpasture
syndrome
• Post-Streptococcal glomerulonephritis nephritis
o >3 years
o Occurs 1-3 weeks after streptococcal sore throat or skin infection by Group A beta haemolytic
streptococcus
o Sx: oedema, gross haematuria like cola/tea, oliguria and hypertension
o Diagnosis: throat or skin culture of organism, raised ASO titre/anti-DNAse B titres, Streptozyme test
and low complement C3. Urinalysis: RBC casts, hyaline and/or epithelial casts.
o C3 level returns to normal after 3-4 weeks
o Renal biopsy indicated when haematuria or proteinuria >1 year, low C3 for >3 months.
o Histological findings:
▪ Light microscopy—> glomerular tufts appear enlarged and swollen often filling Bowman
space
▪ Immunofluorescent microscopy—> granular deposits of IgG and C3 along the capillary walls
▪ Electron microscopy—> electron-dense deposits (humps) in the sub epithelial space
o Complications of PSGN: hypertensive encephalopathy, seizure, heart failure, hyperkalaemia,
hyperphosphataemia, hypocalcaemia, acidosis and renal failure
o Treatment
▪ Symptomatic—> Antibiotics, antihypertensives and diuretics
▪ Complete recovery in 95%
o Duration of haematuria/proteinuria
▪ Gross haematuria: few weeks
▪ Microscopic haematuria: 18 months
▪ Proteinuria: decreasing over 18 months
• IgA nephropathy
o Episodes of macroscopic haematuria commonly in association with upper respiratory tract infections
o Histological findings and management are as for Henoch Schonlein purpura which may be a variant
of the same pathological process but not restricted to the kidney.
o Prognosis in children is better than that in adults
• Familial nephritis
o The most common familial nephritis is Alport syndrome. This is an X-linked recessive disorder that
progresses to end stage chronic kidney disease by early adult life in males and is associated with
nerve deafness and ocular defects.The mother may have haematuria.
o The differential diagnosis is thin basement membrane disease which also requires long-term follow-
up to detect proteinuria and chronic kidney disease which rarely develops in later life
• See essay 35 for HSP and SLE nephropathy; see essay 36 for urinary tract stones
 39. Acute kidney injury. Haemolytic uraemia syndrome
AKI
• This is acute renal failure where there is a sudden, potentially reversible reduction in renal function. Oliguria
(<0.5 ml/kg/hr) is usually present.
• AKI is divided into 4 phases: onset/initiation phase, oliguric/anuria phase, diuretic phase and recovery
phase
• Causes:
o Prerenal—> most common in children
▪ Hypovolemia e.g. gastroenteritis, burns, sepsis,
haemorrhage and nephrotic syndrome
▪ Circulatory failure e.g. peripheral vasodilation in
sepsis, congestive HF, drugs I.e. ACE inhibitors
o Renal:
▪ Vascular e.g. haemolytic uraemic syndrome,
vasculitis, embolus and renal vein thrombosis
▪ Tubular e.g. acute tubular necrosis, ischaemic,
toxic (drugs like aminoglycosides, NSAIDs, IV
contrast) and obstructive
▪ Glomerular e.g. glomerulonephritis
▪ Interstitial e.g. interstitial nephritis and
pyelonephritis
o Postrenal (obstruction)
▪ Congenital e.g. posterior urethral valves
▪ Acquired e.g. blocked urinary catheter, calculi, tumours, neurogenic bladder
• History—> History of sore throat/rash (PSGN), urinary symptoms of haematuria, frequency, dysuria
(pyelonephritis), poor stream (e.g. posterior urethral valves) and history of drugs/medication.
• Symptoms
o Weight gain, peripheral edema and changes in urine output
ABB
o Symptoms of uremia may develop later as nitrogenous products accumulate. E.g. Anorexia, Nausea,
BUN/UREMIA
Ca2+/Phosphate Vomiting, Weakness, Myoclonic jerks, Seizures, Confusion and Coma
D VitD o Asterixis and hyperreflexia may be present on examination.
Electrolyte
Fluid
o Uraemic pericarditis: Chest pain, pericardial friction rub, and findings of pericardial tamponade..
o Fluid accumulation in the lungs may cause dyspnea and crackles on auscultation.
• Investigations
o Urine—> urinalysis with microscopy (casts are present), culture, osmolality, Na, creatinine,
fractional excretion of Na, protein:creatinine ratio, myoglobin and urine calcium/oxalate.
o Blood—> urea, electrolytes, creatinine, Ca, phosphate, albumin, glucose, bicarbonate, plasma
osmolality, FBC, blood film, blood cultures, uric acid, creatine kinase (for myoglobinuria)
▪ For suspected nephritis: complement, ASO titre, anti-DNAseB, ANA, ANCA and anti-dsDNA
antibodies
o Throat swab
o Imaging: US of kidneys and bladder. CXR to prove fluid overload
• Treatment:
o Prerenal failure: correct hypovolemia with fluid replacement and circulatory support.
o Renal failure:
▪ For circulatory overload→ restrict fluid intake and give diuretics.
▪ High calorie normal protein feed for decreasing catabolism, uraemia and hyperkalemia.
▪ Metabolic acidosis→ Sodium bicarbonate
▪ Hyperphosphatemia→ calcium carbonate and dietary restriction
▪ Hyperkalemia→ calcium gluconate (if ECG changes), Salbutamol (nebuliser or IV), calcium
exchange resin, glucose with insulin, dietary restriction or dialysis
o Postrenal failure:
▪ Relief from obstruction by nephrostomy or bladder catheterisation. Surgery can be
performed when electrolyte disturbances are corrected.
o Dialysis → this can be peritoneal dialysis or haemodialysis→ indicated when there is failure of
conservative management, Hyperkalemia, Severe hyponatraemia or hypernatraemia, pulmonary
oedema or severe hypertension (due to volume overload), severe metabolic acidosis and multi
system failure
Haemolytic uraemic syndrome (HUS)
• This is a triad of:
o Acute renal failure,
o Microangiopathic haemolytic anaemia
o Thrombocytopenia
• Etiology:
o E. coli (O157:H7)
o Miscellaneous e.g. drugs, pregnancy, systemic scleroderma, tumours
o Other infections e.g. Shigella, other ETEC/EHEC, pneumococcus, HIV/EBV
• Types of HUS:
o Typical HUS which has a diarrheal prodrome due to infection
o Atypical HUS which is not associated with diarrheal prodrome
• Typical HUS:
o This is secondary to GI infection with verocytotoxin (aka Shiga-like toxin)-producing E. Coli O157:H7
which is acquired through contact with farm animals or eating uncooked beef or less often Shigella
(via Shiga toxin).
o The toxin from these organisms enters the GI mucosa and preferentially localises to the endothelial
cells of the kidney where it causes intravascular thrombogenesis. Coagulation cascade is activated
and clotting is normal (unlike DIC). Platelets are consumed in this process and microangiopathic
haemolytic anaemia results from damage to RBC as they circulate through the microcirculation,
which is occluded. Other organs such as the brain, pancreas and heart may also be involved.
• Atypical HUS:
o It has no diarrhoeal prodrome, may be familial and frequently relapses.
o Associated with mutations in complement regulatory proteins. Results in inappropriate
complement activation, endothelial injury and thrombosis.
• Clinical presentation:
o Typical HUS follows prodrome of bloody diarrhoea: 3-12 days of watery/bloody diarrhoea in 6
month-5 year old child.
o Atypical HUS without prodrome.
o Pallor due to sudden decrease in Hct and platelets
o Oliguria – can be masked by diarrhoea
o Neurological symptoms: weakness, confusion and seizures
o GI: haemorrhaging colitis, abdominal pain, nausea and vomiting. Pancreatitis.
o CV: arrhythmias
• Investigations
o FBC – thrombocytopenia and anaemia. High bilirubin and low haptoglobin
o Blood film - Fragmented RBCs (schistocytes)
o Urinalysis, microscopy
o Prove bacteria - blood cultures, stool culture and microscopy and ELISA of bacteria.
o Biochemistry- urea, electrolytes, high LDH
o Coagulation screen
o Direct Coombs test – negative in HUS
• Diagnosis—> Clinical features w/ or w/o Stool testing for organism
• DDX:
o Thrombotic thrombocytopenia purpura (has decreased ADAMTS13 activity unlike HUS)
o DIC syndrome
o Immune thrombocytopenia purpura (has positive Coombs test)
• Recovery: renal function returns in 3-12 days. Platelet increase indicates recovery. 50% need haemodialysis.
• Treatment:
o Supportive - Monitor electrolyte balance, monitor fluid balance, nutrition, blood transfusion and
treat hypertension. Haemodialysis. NO antibiotics!
o For atypical HUS—> Eculizumab (monoclonal anti-terminal complement antibody).
▪ Plasma exchanges is still used especially in cerebral atypical HUS.
• Typical HUS has good prognosis with early supportive therapy including dialysis.
• Long term follow-up is required assessment of persistent proteinuria, hypertension and progressive CKD in
subsequent years.
 40. HYPERTENSION

Hypertension (HTN) in children is defined as having an average blood pressure (BP) > the 95th percentile for their
respective age, gender and height on at least 3 different occasions.

* Accurate BP measurements are taken anuualy in children < 3 y/o, width of the cuff should be between 50-75% of
the circumference of the childs arm. Must correlate with BP tables for age, gender, height and weight plus take a
complete family hx of HTN.

CLASSIFICATION OF BLOOD PRESSURE (0-15 yrs)

• Normal → <90th BP percentile (%).

• Prehypertension → 90th-95th
• Stage 1 HTN → 95th-99th (+ 5 mmHg)
• Stage 2 HTN → >99th (+ 5mmHg)

AETIOLOGY

Primary (essential) HTN: HBP with an unknown cause – most common amongst obese children or adolescents.

• Linked to family hx, diet (matabolic syndrome), ↓ physucal activity and ↑ stress.

Secondary HTN: HBP caused by a an known underlying primary disease – most common amongst infants with renal
disease being the most common cause, *otherwise systematic HTN is rare amongst children. Causes of secondary
HTN are as follows:

• Renal diseases:
o Congenital anomalies (renal dysplasia , obstructive uropathy)
o Structural disorders (Wilm’s tumour, polycystic kidney disease)
o Acute and chronic glomerulonephritis
o Haemolytic uraemic syndrome
• CVDs:
o Renal artery stenosis, renal vein thrombosis
o Vasculitis
o Coarction of the aorta
• Endocrine disease (endocrinopaties): Pheochromocytoma and neuroblastoma (catecholamien secreteing
tumours), Hyperthyrodism, hyperaldosteronism, hypercortisolism.
• Neurologic (↑ ICP)
• Others: illicit drugs e.g. cocaine.

Causes of HTN in the newborn: ● Umbilical artery catherterisation, ● Renal artery thrombosis.

Causes of HTN during early childhood: ● Renal disease, ● Coarctation of the aorta, ● Endocrine disorders, ●
Medication.

HTN in adolescents - essential hypertension.

EPIDEMIOLOGY: HTN is uncommon in infants and young children (<1% prevalence), if present is indicative of
underlying disease (secondary HTN). Increasing prevalance of primary hiypertension with increasing school age in
parallel with the obesity epidemic.

CLINICAL FEATURES

• Most children are asymptomatic (perticularly in cases of primary HTN). Secondary HTN has BP elevations ranging
from mild to severe.
• Sxs of severe HTN include: headache, dizziness, epistaxis (nose bleeds), vomiting, seizures, high temperature and
visual changes (blurred vision, flame hemorrhage, and cotton wool spots on retinal exam).
• End organ damage in marked HTN e.g. heart failure +/- pulmonary oedema and left ventricular hypertrophy
(LVH), stroke and renal dysfunction.
• Various histories: neonatal history - low birth weight or use of umbilical artery catheter, family history of HTN,
stroke and other CVDs; and dietary history (salt, caffeine or drugs) are important.
• Specific signs: Coarctation of the aorta (abdominal bruit, diminished leg pressure and weak femoral pulse) ; renal
artery stenosis (cafe-au-lait spots); Wilm’s tumour (flank mass); pheochromocytoma ( achycardia with flushing
and diaphoresis.

DIAGNOSIS

1. History and physical examination.

2. Baseline aetiologic assessment: urinalysis, electrolytes, blood urea nitrogen, creatinine, and renal ultrasound.
3. Focused studies based on clinical suspicion: plasma metanephrines, thyroid studies and vascular imaging.
4. Assess for target organ damage: echocardiogram for left ventricular hypertrophy.
5. Assess other CV risk factors (lipids, fasting glucose, uric acid)

TREATMENT

Therapeutic lifestyle changes (diet, exercise) for asymptomatic stage 1 HTN without target organ damage or systemic
disease.

• ↓ salt intake, eat low fat, balamced diet, be active, loose weight, drink less caffeine.

Medication is started for stage 2, symptomatic HTN and stage 1 HTN, which fails to respond to lifestyle changes. 1st
line tx for children includes:

• Calcium channel blockers (CCB’s): Amlodipine and Nifedipine

• Angiotensin-converting enzyme inhibitors (ACEi’s): Verapamil, Captopril and Enalipril
• Angiotensin receptor blockers (ARB’s): Losartan and Telmisartan
• β-blockers: Propranolol and Atenolol
• Diuretics: Furosemide and Spironolacton

*More than one agent may be needed.

PROGNOSIS: dependsonunderlying aetiology and extent of BP control. If left untx = ↑ risk of CVD, CNSD and renal
morbidity in adulthood.

HYPERTENSIVE CRISIS/ EMERGENCY

Hypertensive crisis: acute increase in both SBP and DBP with end-organ damage e,g, stroke, cerebral haemorrhage,
pulmonary oedema, renal failure, hypertensive encepahlolthy, ↓ vision (hypertensive retinopathy or retinal
hamrohhrage) and seizures.

• Hypertensive urgency: acute increase in BP but w/o end organ damage.

RFs: BMI > 95th percentile, pre-existing HTN and poor BP conntrol.

Pathophysiology: rapid ↑ in TPR due to increases in circulating vasoconstrictor substances e.g. NA, Ang II (possible
overactivation of RAAS) and anti-natriuretic hormone. Arteriolar fibrinoid necrosis induces severely elevated BP
→endothelial damage with resultant end organ ischemia. Ischemia could trigger the further release of vasoactive
substances, causing further vasoconstriction and myointimal proliferation.

Treatment:

• Hypertensive crisis: prompt hospitalization (ICU) and may require parenteral antihypertensive treatment with
nicardipine (CCB), labetalol (α and β-adrenergic blocker), esmolol (β-blocker), hydrazalne (direct vasdilator) or
sodium nitroprusside. Achieve controlled reuction in mean arterial presure, then once stable normalize BP with
oral antihypertesive mediaction over a period of 24-48 hours.
• Hypertensie urgency: normalize BP with oral antihypertesive mediaction over a period of 24-48 hours.
PAEDIATRIC PHYSIOLOGY
o Haematopoiesis in fetal life occurs in the LIVER and postnatally occurs in the BONE MARROW or EXTRA-
MEDULLARY HEMATOPOIESIS→ Hematopoiesis outside medulla of
bone marrow mainly in the LIVER and SPLEEN→ So
hepatosplenomegaly can not only indicate Er destruction but also
its production
o HbF has a much higher affinity for oxygen compared with HbA
hence the oxygen dissociation curve is shifted to the LEFT meaning
it doesn’t let go of oxygen as easily and delivery ↓ O2 to tissues.
o Hb of the term infant is 140-210g/L (high) to compensate low O2
concentration in fetus→ This value then falls to 100g/L (lowest
value) by 2nd month due to reduced RBC production
o Preterm babies have a steeper fall to 65 to 90g/L at 4 weeks to 8 weeks respectively.
o Normal blood volume in term infant is 80ml/kg but preterm being 100ml/kg
o Iron, folic acid and B12 stores are adequate at birth for both preterm and term infants but they deplete
more quickly by 2nd-4th month in preterm infants
o WBC in neonates are ↑ than older children at 10-25*109/L
o Platelet count at birth is within normal adult range at 150-
400*109/L

ANEMIA
o Anaemia is defined as Hb below the normal values:
o Neonate: Hb less than 140g/L
o 1 month to 12 months of age: Hb less than 100g/L
o 1 year to 12 years of age: Hb less than 110g/L
o Dx of ineffective erythropoiesis
o Diagnostic clue of ineffective erythropoiesis:
▪ Normal reticulocyte count
▪ Abnormal MCV of RBCs→ ↓ In iron deficiency and ↑ in folic acid deficiency
1) Iron deficiency
o Mainly caused by:
▪ Inadequate intake/↑requirements → ↑Fe2+ is required for ↑ in blood volume
which accompanies the growth (Puberty) and to build up the child iron stores.
• Intake is from: Breast milk, Formula milk, Cows milk and Solids at weaning
o Cow milk has ↑ Fe content but 10% is absorbed where as breast milk
has ↓ Fe content but 50% is absorbed. Don’t feed infants with just
unmodified cows milk! → Other: Meats, organs, beans etc.
• Its absorption is ↓ when ate with tanins (tea) and ↑ with VitC rich foods.
▪ Malabsorption → Celiac disease etc.
▪ Chronic blood loss→ Meckels diverticulum, older child→ IBD, menorrhagia, epistaxis
o Stages of Iron deficiency:
1) Pre-latent iron deficiency→ Normal Hb + serum iron BUT ↓serum FERRITIN
2) Latent iron deficiency→ Normal Hb BUT ↓serum iron, ↓ferritin and ↑TIBC
3) IDA→ ↓Hb, ↓Serum iron, ↓ferritin and ↑TIBC → Hypochromic Microcytic
o Clinical features→ Most are asymptomatic until Hb <60/70g/L and present with SLOW FEEDING,
pale (conjunctiva, tongue or palmer creases).
▪ Some present with PICA→ Inappropriate eating of non-food material such as soil.
 o Diagnosis:
▪ Bloods→ MCV + MCH ↓↓ (Microcytic, hypochromic anemia) and ↓ serum ferritin
• DDx of microcytic anaemia→ B-thalassemia
o Mx→ Dietary advice + Oral iron supplement (Sytron, Niferex)→ Oral med continued until normal
iron levels reached then continue for additional 3 months to replenish iron stores.
▪ Supplement with ↑ dietary intake of iron also e.g. formula feeding, meat, liver etc.
2) Red cell aplasia
o Mainly caused by:
▪ Congenital red cell aplasia (Diamond-Blackfan anaemia)→ Inherited or sporadic
• Most cases present 2-3 months postpartum→ Tx w/ steroids, RBC transfuse
▪ Transient erythroblastopenia of childhood
• Triggered by viral infection→ Fixed after Tx unlike diamond blackfan anemia
▪ Parvovirus B19 infection (only affect children with inherited haemolytic anaemia)
o Diagnostic clue of red cell aplasia:
▪ Low reticulocyte count despite low Hb
▪ Normal bilirubin
▪ Negative Coombs test
▪ Absent red cell precursor on bone marrow examination

- Normal reticulocyte count: 7-14% → (Normal is >3%)

- DDX of microcytic anemia→ IDA, Anemia of chronic disease, LEAD POSIONING and thalassemia
o Tx Anemia of chronic disease with iron supplementation is USELESS, Tx underlying disease!!
o Hallmark of Lead poisoning→ Microcytic anemia + BASOPHIL STIPPLING
- Aplastic anemia
1) Congenital
▪ Fanconi anemia→ Autosomal recessive condition with an onset typically around 4
years of age. Children have Cafè-au-lait spots with growth delays, urogenital
anomalies (cryptorchidism, hypogonadism)
• Dx→ ↑ Chromosome fragility, Reticulocytes ↓
• Tx→ Bone marrow transplant, androgen therapy
▪ Diamond Blackfan anemia→Ribosomopathy+ defective erythropoiesis+ short stature
▪ Pearson syndrome→ Mitochondrial cytopathy+ liver involvement + lactic acidosis
2) Acquired→ Idiopathic or Secondary (Drugs→ cytostatic, anti-epileptics, chloramphenicol; Viral
infections→ Hepatitis, EBV, CMV, HIV; Radiation exposure; toxic substances)
o Clinical presentation→ Thrombocytopenia (acute bleeding), Anemia (Pallor, fatigue) and
Neutropenia (necrotic lesions at entry sites e.g. buccal mucosa or perianal region)
o Lack of LN’s and hepatosplenomegaly
PAEDIATRIC PHYSIOLOGY
- Haematopoiesis in fetal life occurs in the LIVER and postnatally occurs in the BONE MARROW or EXTRA-
MEDULLARY HEMATOPOIESIS→ Haematopoiesis outside medulla
of bone marrow mainly in the LIVER and SPLEEN→ So
hepatosplenomegaly can not only indicate Er destruction but also
its production
- HbF has a much higher affinity for oxygen compared with HbA
hence the oxygen dissociation curve is shifted to the LEFT meaning
it doesn’t let go of oxygen as easily and delivery ↓ O2 to tissues.
- Hb of the term infant is 140-210g/L (high) to compensate low O2
concentration in fetus→ This value then falls to 100g/L (lowest
value) by 2nd month due to reduced RBC production
o Preterm babies have a steeper fall to 65 to 90g/L at 4 weeks to 8 weeks respectively.
- Normal blood volume in term infant is 80ml/kg but preterm being 100ml/kg
- Iron, folic acid and B12 stores are adequate at birth for both preterm and term infants but they deplete
more quickly by 2nd-4th month in preterm infants
- WBC in neonates are ↑ than older children at 10-25*109/L
- Platelet count at birth is within normal adult range at 150-
400*109/L

ANEMIA
- Anaemia is defined as Hb below the normal values:
o Neonate: Hb less than 140g/L
o 1 month to 12 months of age: Hb less than 100g/L
o 1 year to 12 years of age: Hb less than 110g/L
- Haemolytic anaemia is characterised by ↓ RBC lifespan which is caused by ↑ RBC destruction either in
the circulation (INTRAVASCULAR HEMOLYSIS) or Liver/Spleen (EXTRAVASCULAR HEMOLYSIS)
- Normal lifespan of a RBC is 120 days→ When haemolysis occurs, bone marrow production ↑ so
anaemia is only achieved when the destruction surpasses the production in the bone marrow
- Causes of ↑ destruction in CHILDREN is intrinsic abnormalities of the RBCs (unlike neonates→ immune
mediated haemolysis):
o Red cell membrane disorders→ Hereditary spherocytosis
o Red cell enzyme disorders → G6PD deficiency
o Hemoglobinopathies e.g. B-Thalassaemia major, sickle cell disease
- Clinical features (generally):
o Anaemia, Hepatosplenomegaly, ↑Unconjugated Br, ↑ urinary urobilinogen
- Diagnostic clues haemolysis is occurring:
o ↑ Reticulocyte count (Polychromasia), Unconjugated-Br + ↑ Urinary urobilinogen, Abnormal RBC
on film, ↑ RBC precursor in the bone marrow and (+Ve) direct antiglobulin test (only if immune
cause)
1) Disorder of RBC MEMBRANE → HEREDITARY SPHEROCYTOSIS
o Autosomal dominant inheritance (but 25% can be sporadic)→ Mutations in genes for proteins in
RBC membrane – SPECTRIN, ANKYRIN or BAND 3→ ↓Surface : Volume ratio causing it to be
spheroidal and less deformable when it passes in the microvasculature of spleen→ Haemolysis!
o Clinical features→ Family Hx, Jaundice in first few days of life/intermittent throughout childhood,
Anaemia (mild), Splenomegaly (mild/mod), Gallstone formation (↑Br), Aplastic crisis if
w/parvovirus B19 infection
 o Dx→ BLOOD FILM, OSMOTIC FRAGILITY TEST
o Mx→ Pts have ↑ Folic acid requirement due to ↑ RBC destruction so supplementation with
folate, SPLENECTOMY if poor growth/severe cases (done after 7yrs old to avoid post-splenectomy
sepsis→ Before splenectomy give vaccines against HiB, S.pneumonia, meningitis C and after give
lifetime oral Penicillin prophylaxis), Blood transfusion in aplastic crisis.
▪ If gallstones become symptomatic→ Cholecystectomy
2) Disorder of RBC ENZYMES → G6PD DEFICIENCY
o X-Linked (predominantly MALES)→ Common in middle east, Mediterranean and central Africa
▪ G6PD is in the pentose phosphate pathway and essential for preventing oxidative damage
to RBC→ When Hb denaturation occurs (due to oxidative damage) → HEINZ BODIES→
Heinz beans= Acute hemolytic attack!! = it’s a joke …
▪ Affected males will have low or absent enzyme activity in their RBC’s
o Clinical manifestation:
▪ Neonatal jaundice, Acute hemolysis (caused by drugs(Table), fava beans and naphthalene
in mothballs)→ Hemolysis is mainly intravascular and is associated with FEVER, malaise,
abdominal pain and DARK URINE (Hb + Urobilinogen) → Hb↓ <50g/L in 24-48hrs
Antimalarial drugs Antibiotics Analgesics Chemicals
Quinine, Primaquine, Sulphonamides, Aspirin (↑dose) Napthalene and fava
Chloroquine Quinolones, Nitrofurantoin beans
o Dx→ Between episodes pt is completely normal, measure G6PD activity of RBC but during the
haemolytic crisis its ↑ due to reticulocyte synthesis so do a repeat assay after haemolytic crisis
o Mx→ Parents need to be aware of signs of haemolysis and avoid foods and drugs which induce it
3) Hemoglobinopathies
a. SICKLE CELL DISEASE
▪ Autosomal recessive inheritance where abnormal HbS is produced due to a point
mutation in the B-globin gene causing AA change from glutamine to VALINE. Three forms:
I. Sickle cell anaemia (HbSS)→ homozygous HbS→ No HbA and small amounts of HbF
II. HbSC disease (HbSC)→ HbS from 1 parent and HbC from other (HbC is from another
point mutation in B-globin, together with HbS there’s no normal HbA globins)
III. Sickle B-thalassaemia→ HbS from 1 parent and B-thalassemia trait from 1 parent
IV. Carriers (sickle trait) HbS from 1, normal B-globin from other parent= no symptoms
• Just screen prior to general anaesthesia in case hypoxia triggers it
▪ In ↓PO2, Dehydration and cold causes HbS to polymerize within RBCs deforming them
into sickle shape→ ↓ lifespan RBC but can also cause vessel occlusion→ Organ ischemia
▪ Clinical manifestation:
• Anaemia→ With jaundice due to chronic haemolysis
• Infection→ From encapsulated organism due to hyposplenism from
microinfarction of spleen from chronic sickling. ↑ risk of sepsis
• Painful crisis→ Vaso-occlusive crisis, Hand-foot syndrome (dactylitis), bone pain
(spine, limbs), avascular necrosis of femoral head.
• Priapism
• Splenomegaly→ Mainly in children, ↓ common in older children.
• Long-term problems→ Short stature, stroke, adenotonsilar hypertrophy, HF, CKD
▪ Dx→ Neonatally= Guthrie test (dried blood spot test)
▪ Mx
• Prophylaxis to encapsulated organisms (VACCINES)/daily oral penicillin, Folic acid
for chronic anaemia and avoid triggers such as dehydration, cold and hypoxia.
• Painful crisis (Analgesics) and exchange transfusion in priapism, acute chest
syndrome, stroke
• Hydroxycarbamide (↑HbF), Bone marrow transplant if hydroxycarbamide fails
b) B- THALASSAEMIAS
• HBB mutation on Chr 11 in autosomal recessive→ Common in Mediterranean
 • 2 main types→ B-T-intermedia(mild, small amount of HbA + HbF produced) and B-
T-Major(severe, HbA cannot be produced)→ both have ↓ production of B-globin
and hence reduction in HbA (consequent) (HbA(a2B2) cannot be formed!)
• Clinical manifestations:
o Severe anaemia→ Pallor, Jaundice, faltering growth
o Extra-medullary hemopoiesis→ hepatosplenomegaly, bone marrow
expansion causing classical skull bossin with maxillary overgrowth
• Mx→Life long transfusion with RBC→ Aim to keep Hb >100g/L to reduce growth
failure and bone deformation.
o Repeated transfusion cause IRON OVERLOAD (previously was cause of death,
not the actual disease) which if left untreated cause HF, Cirrhosis, DM etc. →
To prevent this CHELATION with subcutaneous desferrioxamine or oral
desfeasirox from 2-3 yrs of age.
o Splenectomy may be effective if transfusion dependency ↑
o Bone marrow transplant→ Only cure but only from HLA identical sibling
c) ALPHA-THALASSAEMIA
• Individuals have 4 alpha globin genes so manifestation depends on how many
chains are affected→ a-T major aka Hb Barts hydrops fetalis caused by all 4 a-
chains lost→ Mid-trimester fetal hydrops (oedema and ascites) from fetal anaemia

HEMOLYTIC ANAEMIA OF NEWBORN

- Mainly associated with antibody destruction of RBCs (Immune → Haemolytic disease of new-born) and
sometimes RBC membrane disorders→ Membrane ones are (-Ve Coombs)
- Anti-D (Rhesus Ag), Anti-A or Anti-B (ABO Abs)
o Mother is Rh(-) but makes Abs after 1st pregnancy with Rh(+) child and second pregnancy Abs
cross placenta into baby circulation causing fetal + neonatal jaundice.
o Dx→ Positive COOMBS TEST

BLOOD LOSS (neonatal)

- Feto-maternal haemorrhage (Bleeding into mother)
- Twin-to-Twin transfusion→ bleeding from one twin into the other one
- Blood loss around time of delivery→ Placental abruption

- Autoimmune hemolytic anemia→ Usually there is a preceeding infection or antibiotic use ( ~2wks
before) leading to a acute onset of pallor, jaundice, fatigue/fainting, abdominal pain, splenomegaly,
dark urine (signs of hemolysis)
o Dx→ + Coombs test
o Tx→ Use steroids + immunosuppressants until negative coombs test
NORMAL HAEMOSTASIS
- Coagulation factors→ Produced mainly by liver which become activated by TISSUE FACTOR which is
exposed in vessel (endothelial) injury→ Exposed collagen triggers this.
- Coagulation inhibitors→ Circulate in plasma or are bound to endothelium and prevent widespread
coagulation once coagulation has been initiated.
- Fibrinolysis→ Limits fibrin deposition at injury site due to activity of PLASMIN.
- Platelets→ aggregate at site of vessel injury forming primary haemostatic plug → is stabilised by fibrin
- Blood vessels→Intact vascular endothelium secretes prostaglandin I2 and NO which inhibits platelet
aggregation. But damaged endothelium releases TF and procoagulants (collagen and vWF) but this is
controlled by inhibitors on endothelial surface like thrombomodulin, antithrombin and protein S)
Diagnostic approach
1) Identify features in clinical presentation:
Age of onset Neonate→ Haemophilia (intracranial or after circumcision)
Toddler→ haemophilia when starting to walk
Adolescent→ VW disease presents with menorrhagia
Family history Family tree, gender of affected relatives
Bleeding history Drug history (anticoagulants?) systemic disorders?, previous surgical procedures→ If
uncomplicated then bleeding is now acquired.
Pattern of bleeding Mucous membrane bleeding and skin haemorrhage→ Platelet disorder or VW disease
Bleeding into muscle/joint→ Haemophilia
2) Laboratory screening tests:
o PT measures the activity of factors I, II, V, VII and X→ Extrinsic pathway HEMOPHILIA A/B:
o aPTT measures activity of I,II,V,VIII,IX,X,XI and XII→ Intrinsic pathway PT= Normal
o Thrombin time (TT)→ Measures deficiency/dysfunction of fibrinogen (→Fibrin) aPPT= Prolonged
o D-Dimers → Tests for fibrin degradation products
o Biochemical tests→ Liver, renal function tests
- In neonate the levels of ALL clotting factors except factor VIII and fibrinogen are lower with preterm
infants have even lower levels→Their levels are compared with other healthy infants of same age

HAEMOPHILIA→ There’s also Haemophilia C (XI deficiency)

- Most common coagulation disorders→ Haemophilia A (>common) & B → both are X-LINKED RECESSIVE
- Haemophilia A = deficiency of factor VIII and Haemophilia B deficiency of factor IX
- Clinical features → Graded as severe/mod/mild based on degree of factor 8/9 deficiency→ Hallmark of
severe disease is recurrent spontaneous bleeding into joints and muscles→ Crippling arthritis
o Most children present when they start crawling/walking with some presenting in neonatal
period→ intracranial haemorrhage, bleeding after circumcision/venepuncture
- Mx→ Recombinant FVIII concentrate for (HA) or recombinant FIX concentrate for (HB) via I.V when
bleeding occurs.
o If recombinant concentrate is unavailable then virally inactivated plasma-derived products
o DESMOPRESSIN (DDAVP) can be used in mild haemophilia A→ Stimulates endogenous FVIII:C and
vWF production however this is ineffective for H-B.
o I.M injections, aspirin and NSAID’s should be AVOIDED!
- Complications of Tx:
o Inhibitors i.e. Ab’s to FVIII or FIX→ Develops in some patients reducing effect of Tx
o Transfusion-transmitted infections→ Hepatitis A, B, C, HIV, Prions, Parvovirus B19
o Peripheral veins→ Difficult to cannulate, central venous access infected/thrombosed.

VON WILLEBRAND DISEASE

- VWF has two roles→ Facilitates platelet adhesion to damaged endothelium and acts as the carrier
protein for FVIII, protecting it from inactivation and clearance.
- vWDisease (vWD) is quantitative (Type1) or qualitative (Type2) deficiency of vWF→ defective platelet
plug formation and deficiency in FVIII (FVIII breaks down too quick as vWF cant protect FVIII)→ This is
an AUTOSOMAL DOMINANT condition➔ Diagnosed via labs: aPPT slightly↑, FVIII normal/slight ↓,
impaired platelet aggregation with RISTOCETIN and ↓ of vWF antigen.
- Clinical features→ Bruising, Excessive/prolonged bleeding after surgery, mucosal bleeding such as
epistaxis and menorrhagia. → In contrast to haemophilia, soft tissue bleeding is uncommon!
- Mx
o Depends on the type and severity of the disorder→ Type 1 treated with DDVAP but must be used
with caution in children <1 due to hyponatremia (causes water retention)
o Severe types→ Plasma-derived FVIII concentrate
o I.M injections, aspirin and NSAID’s should be AVOIDED! → So it contact sports

ACQUIRED DISORDERS OF COAGULATION

- Haemorrhagic disease of new-born due to VitK def, liver disease, immune thrombocytopenia, DIC
- VitK essential for production of factors: II, VII, IX, X, Protein C and protein S.
o Deficiency due to Inadequate intake, malabsorption (celiac, CF, obstructive jaundice), warfarin
 - Thrombocytopenia is a platelet count < 150*109/L→ Bleeding risk depends on platelet count
o Severe thrombocytopenia→ <20*109/L → Risk of spontaneous bleeding
o Moderate thrombocytopenia→20-50*109/L→ Risk of prolonged bleeding in trauma/surgery
o Mild thrombocytopenia→ 50-150*109/L→ ↓ risk of bleeding unless major surgery/trauma

CLINICAL FEATURES (GENERALLY)

- General features are associated with bruising, petechiae, purpura and mucosal bleeding (epistaxis
or bleeding from gums when brushing teeth)→ Purpura can occur not only in thrombocytopenia
but also when normal platelet count with platelet dysfunction and vascular disorders.

CAUSES OF PURPURA/EASY BRUSING

A) Platelet count reduced i.e. thrombocytopenia
1) Increased platelet destruction/consumption
a. Immune→ Immune thrombocytopenic purpura (ITP), SLE, Alloimmune neonatal
thrombocytopenia.
b. Non-Immune→ HUS, DIC, Thrombotic thrombocytopenic purpura, Hypersplenism,
congenital heart disease and Giant haemangiomas (Kasabach-merritt syndrome)
2) Impaired platelet production
a. Congenital→ Fanconi anaemia, Wiskott-Aldrich syndrome, Bernard-soulier syndrom
b. Acquired→ Aplastic anaemia, Marrow infiltration (leukemia etc), Drug induced
B) Normal platelet count
3) Platelet dysfunction
a. Congenital→ Rare disorders→ Glanzmann thrombasthenia
b. Acquired→ Uremia, caroiopulmonary bypass
4) Vascular disorders
a. Congenital→ Rare disorders→ Ehlers-Danlos, Marfan syndrome, Heretidatry
hemorrhagic telangiectasia
b. Acquired→ Meningococcal + other severe infections, Vasculitis→ Henoch-Schonlein
purpura, SLE, Scurvy

IDIOPATHIC (IMMUNE) THROMBOCYTOPENIC PURPURA

- Most common cause in childhood→ Caused by destruction of the circulating platelets by anti-
platelet IgG autoAb’s→ Hence may be associated with megakaryocyte hyperplasia in bone marrow
- Common presentation is between 2-10 yrs of age with onset 1-2 weeks after viral infections
- Bruising, petechiae, purpura and mucosal bleeding→ Profuse GI bleeding is uncommon
- Diagnosis:
o Based on exclusion→ The younger the child, consider congenital causes such as Wiscott-
Aldrich or Bernard Soulier Syndromes, If signs of anemia + neutropenia +
hepatosplenomegaly→ Consider bone marrow examination to exclude leukemia/aplastic
anaemia.
- Mx:
o Disease is acute, benign and self-limiting in 80% of cases with remission occurring in 6-8wks
o Tx is controversial as some children wont even need it even if platelet count is <109/L but
should be done if there is evidence of major bleeding (intracranial or GI→ MELENA)
Experimental ▪ Tx with Oral Prednisolone, I.V Anti-D or I.V immunoglobulin transfusion
drug= ▪ Platelet transfusion are done only in life-threatening cases as they ↑ platelet count
ROMIPLOSTIM only for a few hours
o Child should avoid any form of contact sport/trauma possible
- Chronic ITP→ If platelet count remains low 6 months after Dx→ Tx is mainly supportive here or in
severe cases of bleeding→ Rituximab, Splenectomy (if drugs fail)
This 5yr old child presented with bruising
Memory anchor
on lower extremities a week after having
URT infection. On examination no
https://www.youtub
lymphadenopathy/organomegaly. Labs
e.com/watch?v=qm6
showed normal blood works (no anemia,
-rU_Hunk
normal WBC) but just ↓Platelets at <179/L
Dx→ ITP→ She recovered after 3 weeks
 DIC SYNDROME
- It is an acquired hemostatic disorder as a result of an initial (generalised) thrombosis in the
microcirculation (exposure to tissue thromboplastin) leading to consumption of the platelets and
coagulation factors→ Secondary bleeding (combination of haemorrhage and thrombosis)
- Etiology: Infections (meningococcal, sepsis), Severe tissue injury (burns, shock, hypoxia,
hypothermia), Malignant diseases (Acute promyelocytic leukemia) and Toxins (snake bite)
- Labs:
o Thrombocytopenia (platelets used up)
o Prolonged aPPT & PT (all coagulation factors used up)
o ↓Fibrinogen (used up)→ Prolonged TT
o Fibrin degradation products ↑= This is in the form of ↑D-Dimers
o Fragmentocytes (fragments/fibrin splits) in blood smear
- Tx→ Tx underlying condition causing the DIC, correct hypovolemia/acidosis
o Infusion with platelets, FFP, Antithrombin III
 - Acute lymphoblastic leukaemia (ALL) accounts for 80% of leukaemia’s in children with most of the
remainder being AML and Acute non-lymphocytic leukaemia’s (ANLL)
o CML and the other myeloproliferative disorders are rare

CLINICAL PRESENTATION (ALL children have it!)

- Peak incidence is 2-5Yrs Old→ Symptoms are due to disseminated disease/systemic Ill health
o General→ Malaise, Anorexia, Low grade fever
o Bone marrow infiltration → PAIN (Pressure ↑ in medullary cavity on endosteum)→ Limping
▪ Anaemia→ Pallor, lethargy
▪ Neutropenia→ Infections
▪ Thrombocytopenia→ Bruising, petechia, nose bleeds
o Reticulo-endothelial infiltration Acute Promyelocytic
▪ Hepatosplenomegaly leukaemia→ The blast cell
▪ Lymphadenopathy, Superior mediastinal obstruction membranes begin secreting
o Other organ infiltration tissue thromboplastin (TF)
▪ CNS→ Headaches, vomiting, nerve palsies initiating thrombosis
▪ Testes→ Testicular enlargement (generalised)→ DIC

DIAGNOSIS
- FBC→ Low Hb, Thrombocytopenia (<150*109), WBC↑, Urate ↑ and LDH↑
o Evidence of leukemic blast cells on peripheral smear
o Clotting screen→ 10% of pt’s present with DIC→ Haemorrhagic or thrombotic complications
- Bone marrow biopsy → Examine for blast cells, hyperplasia etc.
- Lumbar puncture→ Identify disease (Blasts) in CSF
- X-RAY→ check for mediastinal mass (LN’s), Lytic bone lesions
- Immunological phenotyping → Subclassifies ALL into: Pre-B-Cell precursor & T-cell (15%) subtypes
o Chromosomal analysis→ Philadelphia chromosome (9:22)→ Poor prognosis

MANAGEMENT
- Intensity of therapy is adapted according to the risk (based on prognostic factors)
- Remission induction
o 1st Correct: Anaemia (Blood transfusion), risk of
bleeding (Platelet transfusion), infection
(Cotrimoxazole→ Prevent pneumocystis infection)
o Additional hydration + ALLOPURINOL given to
protect renal function against rapid cell lysis
o Chemotherapy + Steroids
o Remission= Eradication of blast cells and
restoration of bone marrow function
o Chemotherapy is continued over long time up to 3
years from Dx
- Intensification→ Block of intensive chemotherapy given to
consolidate remission→ Improves cure rates but at the
expense of increased toxicity.
- CNS→ Cytotoxic drugs don’t penetrate CNS well→
Leukemic cells here may still survive systemic Tx so → INTRATHECAL chemotherapy will prevent
CNS relapse
- Relapse
o High dose chemotherapy with/out total body irradiation followed by BONE MARROW
TRANSPLANT
- Prognosis → Very good with chemotherapy 95% success !

MEMORY ANCHOR
https://www.youtube.com/watch?v=Z4szXwfRMsU
- Lymphomas are malignant proliferation of lymphocytes which can accumulate in lymphoid organs but
can spill into peripheral blood
- Divided into Hodgkin and non-Hodgkin lymphoma (NHL)
o HL→ Reed-Sternberg cells (Multinucleate/ bi-lobed nuclei)→ Owl’s eye appearance
o NHL→ All lymphomas WITHOUT Reed-Sternberg cells
- NHL is more common in childhood, while Hodgkin lymphoma is seen more frequently in adolescence

HODGKIN LYMPHOMA
- Clinical presentation
o Painless lymphadenopathy → Mainly in the NECK (Cervical lymph nodes)→
Much larger and firmer than the benign lymphadenopathy seen in children.
▪ LN’s can become so large they may OBSTRUCT AIRWAYS
▪ Alcohol may induce PAIN
o Clinical history is insidious and systemic symptoms (B-symptoms→ Fever,
weight loss, sweating, pruritus) are in 25% of cases
- Diagnosis
o Bloods→ FBC, ESR, LDH↑ (↑Cell turnover), Urate ↑
o Lymph node biopsy
1. Nodular sclerosing = most common→ (+) Lacunar cells
2. Lymphocyte rich = best prog
3. Lymphocyte deplete = worst prog
4. Mixed cellularity→ Associated with EBV
▪ Staging (Ann-Arbor):
• I – confined to a single LN
• II – 2 or more nodal areas involved on the same side of diaphragm.
• III – involvement of nodes on both sides of diaphragm.
• IV – extra-nodal involvement (e.g. liver and BM).
• For each stage:
o A – no symptoms other than pruritis
o B – weight loss, night sweats and fever. Worse prog.
o Radiological assessment → Assess all nodal sites
o Bone marrow biopsy
- Management
o Chemotherapy +/- radiotherapy
▪ PET scan is used to monitor Tx response an guide further management
▪ Prognosis→ GOOD, 80% cured, even if disseminated (60%)→ Better than NHL

NON-HODGKIN LYMPHOMA
- All lymphomas without Reed-Sternberg cells
o NHL & T-cell malignancies (ALL) are both characterised by MEDIASTINAL mass +Bone Marrow
infiltration→ mediastinal mass can cause superior vena cava syndrome → Dyspnoea, facial
swelling, flushing and venous distension in the neck/chest/arms
o 75% Nodal disease
o 25% Extra-nodal:
▪ Skin involvement→ Sezary syndrome (T-cell)
▪ Oropharynx
▪ GUT:
• Gastric MALT→ MALTOMAS (Caused by H.pylori)
• Non-MALT gastric lymphomas
• B-Sx is less common than hodgkins lymphoma
- Diagnosis
o Bloods→ FBC, U&E, Urate↑, LDH↑
o Biopsy of bone marrow and LN’s
o Radiological assessment→ CT/MRI→ For nodal sites→ Chest, abdomen and pelvis
o Lumbar puncture→ CSF→ IF CNS signs
TYPES OF NHL LYMPHOMA

Low grade High grade

- Follicular (18:14; B cell) - Diffuse large B cell – most common
- Marginal zone lymphoma/ MALT (thus - Burkitt’s (8:14; IgH-Myc). Associated
risk from H.pylori) with EBV.
- Lymphocytic lymphoma - Lymphoblastic lymphoma
- Lymphoplasmocytoid lymphoma (this is - T cell lymphomas
Waldenstrom’s)
Tx
- Low grade: If asymptomatic → May not treat Rituximab (Rituxan)
o Tx if causing pain, blockage, BM failure, B-symptoms Cyclophosphamide
- High grade: R-CHOP Doxorubicin
Vincristine
Prednisone
BURKITS LYMPHOMA
- A type of B-cell NHL and has 3 variants
1) ENDEMIC VARIANT is most common in children living in malaria endemic regions and hence
is the most common childhood cancer in AFRICA
• EBV infection is found in nearly ALL patients/ Also malarial co-infections
• Characteristically involves the JAW or other FACIAL BONES.
2) In western world, cases are SPORADIC
3) Immunodeficiency-associated burkits lymphoma is associated with HIV or
immunosuppressed patients post transplantation
- Tx→ Chemotherapy
Neuroblastoma
- = malignant embryonal tumour derived from neural crest cells → neuroendocrine tumour.
o Adrenal glands (most common site)
o Sympathetic chain:
▪ Neck.
▪ Thorax Differences between NB and phaeo:
▪ Abdomen - PHAEO: mostly benign, adults,
▪ Pelvis episodic HTN
- Peak = 2yo. - NB: mostly malignant, children,
- Associated with: calcifications on X-ray.
o NF1 gene mutation
o Beckwith-Wiedemann syndrome
- Symptoms are dependent on location:
o Palpable (often painless) mass – may cross midline
o Compression of nerves (e.g. Horner’s, spinal cord), airway, veins, bowel
▪ Paravertebral tumours can invade intervertebral foramen→Spinal cord
compression
o Sympathetic: sweating, pallor, watery diarrhoea, HTN
o ‘Dancing eyes’
o Blueberry muffin sign→ Small blue deposits in the skin→ S4 metastases
o Periorbital bruising (racoon eyes)→ Differentiate from skull base fracture/Child abuse
o >2yrs old/Signs of metastases:
▪ Bone pain
▪ Lymphadenopathy and signs of pancytopenia→ Bone marrow suppression
- Ix:
o Urine catecholamine (VMA or HVA): creatinine ratio ()
o Tumour markers (urinary; NSE [neurone-specific endolase] and LDH in serum)
o MIBG uptake scan: MIBG = given IV, and taken up by neuroblastoma cells
o Confirmatory biopsy + bone marrow biopsy
- Management: Venillylmandelic acid (VMA)
o Some infants may resolve spontaneously Homovanelic acid (HVA)
o Localised primary tumours→ Surgery + Radiotherapy
o Metastatic disease in older children→ Chemotherapy + Surgery + radiotherapy
o Cis-retinoic acid may be useful→ Immunotherapy
- Prognosis:
o Only 20-30% cured 13-Cis-retinoic acid=
o Poor prognostic factors: ISOTRENITOIN=
▪ >18mo ACCUTANE!!!
▪ Stage 3/4
▪ serum ferritin
▪ LDH
▪ Unfavourable histology
▪ MYCN oncogene amplification
MIBG Scan→:
showing
metastatic tumour
marrow
Wilms’ tumour (nephroblastoma)
- Most common renal tumour of childhood, especially 2-5 years
- Renal mesodermal tumour→ Originates from embryonal renal tissue
- Normally in otherwise healthy children
- Can be associated with:
o Genitorurinary malformations, e.g. horseshoe kidney, hypospadias
o Aniridia (no iris)
o Chromosome 11 mutation Wi1 - 11
o Beckwith-Wiedmann syndrome
o WAGR syndrome (Wilms’, aniridia, GU abnormalities, retardation)
- Presentation:
o Asymptomatic abdominal mass in children (palpable/ visible)
▪ Painless on palpation
▪ May be some abdominal distension
o Haematuria!! Does not cross midline,
o HTN whereas
o Anaemia → Haemorrhage into the mass NEUROBLASTOMA does.
o UTI Wilm’s = wun-sided
- Metastases are commonly → lung
- WT1 tumour suppressor gene = on chromosome 11
- Ix:
o Abdominal USS
o CT abdo (claw sign on kidney)
o CXR
o Urine catecholamines to exclude neuroblastoma
- Mx:
o Chemotherapy in all 1st
o Surgical excision (nephrectomy) After chemo
o Radiotherapy
- Prognosis is good.
 1) Type 1 DM → 95% of diabetic children → 50% passed on genetically → HLA-DR3/4
o Destruction of the pancreatic B-cells by autoimmune process→ Molecular mimicry between
environmental trigger (enteroviral infections, cow milk proteins and overnutrition) and Ag on
surface of B-cells → Their destruction → Pancreatic insufficiency
o Markers of B-cell destruction are Ab’s to glutamic acid decarboxylase, islet cells and insulin
• Other AI disorders are also associated with this→ Hypothyroidism, Addisons disease,
celiac, RA either themselves or family Hx.
o Clinical Presentation
• ↑Common: Polyuria (only for few weeks in contrast to adults), Polydipsia, weight loss
• Less common→ Enuresis (bed-wetting), Skin sepsis, Candida infections
• Late/DKA→ Acetone breath, vomiting/dehydration, abdominal pain, Kussmal breathing,
shock state/coma
o Diagnosis
• Symptomatic child + ↑ Random serum glucose levels >11.1mmol/L, Fasting blood
glucose >7mmol/L or ↑ HbA1c
o Management → Aim for 4-7mmol/L blood glucose!
• Those with DKA→ Urgent care with insulin therapy otherwise educational programmes
for the parents and child teaching them about the pathophysiology of diabetes, injection
of insulin techniques and sites, blood glucose monitoring at home and dietary advice
(carbohydrate counting→ Estimate carbs in food to adjust insulin doses→ Also eat
mainly complex carbs and ↓fats and avoid simple sugars which cause huge spikes of
insulin), lifestyle advice (exercise), how to recognise DKA or hypoglycaemia .
• Insulin→ Chemically modified/recombinant DNA technology to produce human insulin
or modifying chemically, pork insulin.
▪ Human insulin analogue→ Rapid acting Insulin: lispro, glulisine or aspart→ Long
acting: Insulin detemir or glargine
▪ Short acing soluble human insulin→ Onset 30-60mins, peaks 2-4hrs and duration
of 8hrs→ Given before meals→ Actrapid, Humulin S
▪ Intermediate acting insulin: onset 1-2hrs, peaks 4-12hrs→ Insulatard, Humulin I
▪ Predetermined preparations: Mixed rapid (%) with intermediate acting insulin
▪ Insulin pumps→ Continues infusion subcutaneously
• Insulin is given subcutaneously at 45 degree angle on the anterior or lateral aspect of
thigh, buttocks and abdomen→ Important to prevent lipohypertrophy or more rarely
lipoatrophy by changing injection sites.
Insulin
injection sites • Most children are given subcutaneous insulin pumps or multiple daily injection regimens
such as ‘basal-bolus’ which involves giving rapid-acting insulin (lispro, aspart etc) before
each meal (3) PLUS a long acting insulin in the late evening or before breakfast to act as
basal insulin level.
• There is a so called ‘honeymoon period’ where children 1st present with symptoms but
they still have slight pancreatic function so we must increase their insulin regimen
requirement every day (until their pancreatic function stops= full doses)
• Blood glucose monitoring → Helps adjust insulin regimen/doses, measurement of HbA1c
helps look at the compliance/control of blood sugar levels for past 12 weeks (48mmol/L)
is the target.
2) Type 2 DM→ Insulin resistance (5%) later followed by B-cell failure→ 90% passed on genetically
o In older children→ Obesity related, positive family history and not prone to DKA
o Symptoms are the same as DM1 except DKA is less common although it can occur
o Diagnosis→ same as DM1 + signs of INSULIN RESITANCE→↓Acanthosis Nigricans↓, skin tags
3) Other types:
a. Maturity onset diabetes of the young→ Strong family Hx
b. Drugs→ Corticosteroids
c. Pancreatic insufficiency→ CF, iron overload in thalassemia
d. Endocrine disorders→ Cushing syndrome
e. Genetics→ Down syndrome, turners syndrome
f. Gestational diabetes
ACUET COMPLICATIONS
- Hypoglycaemia→ When plasma glucose is <2.6mmol/L
o Infants have ↑ energy requirement but a relatively poor glucose reserve in liver
(gluconeogenesis/glycogenolysis) putting them at risk for hypoglycaemia
o Causes:

o Sx→ Hunger, Pallor, abdominal pain, sweatiness, light headed→ Lead to seizures/Coma
o Tx→ Simple sugars: oral glucose gel (Glucogel) via buccal mucosa
▪ Parents/teachers should have glucagon injection kit I.M admin→ After
hypoglycaemia give long acting carb e.g. slice of bread.
o Hypoglycaemic coma Tx→ Get IV access (intra-oral glucogel if IV access fails)
▪ Give 10% glucose 5ml/ kg IV with IM glucagon → If no return to consciousness:
• Check glucose
• IV dexamethasone
- Diabetic ketoacidosis (DKA)
o Presents as: Acetone breath, vomiting/dehydration, abdominal pain, Kussmal breathing,
shock state/coma Plus triad of DM (Polyuria,Glucosuria, Polydypsia)
o Investigations:
▪ Blood glucose >11.1mmol/L Blood ketones >3.0mmol/L cidosis <15mmol/L (HCO3-)
▪ Abnormal U&E, Cardiac monitor→ T-Changes of hypokalemia
▪ Evidence of precipitating cause→ Infection→ Blood/urine cultures
o Management:
▪ Fluids→ Dehydration corrected over 48 hrs (avoid cerebral oedema)
• Assess by monitoring fluid output and neurological state of patient
▪ Insulin→ After I.V fluid replacement until glucose levels ~14mmol then administer it
with glucose to avoid hypoglycaemia.
▪ Potassium→ Initially ↑ due to transcellular shift for H+ but it depletes when fluid +
insulin is given so monitor it with ECG
▪ Acidosis→ HCO3- should be avoided unless the child is in a state of shock. Acidosis
will fix itself with fluid and insulin therapy
▪ Re-establish oral fluids, subcutaneous insulin and diet→ Don’t stop I.V insulin until 1
hour after subcutaneous insulin has been given
▪ Identify and Tx the underlying cause
THYROID DISODERS
- During foetal development a small amount of thyroxine is transferred from the mother → fetus
hence maternal hypothyroidism can affect the developing brain of fetus
- The Foetal thyroid gland produces REVERSE T3 which is an inactive derivative of T3
o After birth there is a surge in TSH↑↑ and hence ↑T3 and T4↑→ TSH then reaches normal
adult level range within a week
o Preterm infants may have ↓T4 in first few weeks with normal TSH ranges (not high)
HYPOTHYROIDISM
In the NEONATE:
Congenital hypothyroidism
- Prolonged jaundice
• Lack of TH from birth
- Hypotonia
• If not managed → irreversible neurological defects and poor - Hyporeflexia
growth - Bradycardia
• 1/4000 births - Large protruding tongue
• Features: - Umbilical hernia.
o Poor feeding, lethargy, somnolence
o Constipation→ Don’t pass stool 5-7 times (<5)
o Jaundice (unconjugated) + Dry skin Cretinism
o Large fontanelles→ Don’t diffuse in time + Large tongue = hypothyroidism from
o Growth retardation/learning difficulties birth, untreated → mental
o Hoarse voice/cry and physical retardation.
o Nasal obstruction: flat nasal bridge - Short stature
o Narrow palpebral fissures, swollen eyelids -  IQ
o Low temperature/cold intolerance
o Cardiomegaly, HR, pericardial effusion
o Refractory anaemia (macrocytic)
o Myxoedema:
▪ Coarse features
▪ Large head
▪ Non-pitting Oedema of extremities (mucopolysaccharidosis)
▪ Swollen eyes
• Causes:
o Maldescent of thyroid and Thyroid agenesis (absent thyroid)→ Most common
▪ In early fetal life the thyroid migrates from the base of the tongue (sublingual) to its
normal site below the larynx→ in maldescent thyroid, it remains as a lingual mass
o Dyshormonogenesis→ error of thyroid hormone synthesis→ In consanguineous couples
o Iodine deficiency
o Hypothyroidism due to ↓TSH→ Associated pituitary dysfunction with GH & ACTH↓ too
o Transient hypothyroidism, related to maternal Abs/ carbimazole
▪ Carbimazole can cross placenta but TH can’t; thus in maternal hyperthyroidism →
foetal hypothyroidism.
• Screening:
o Pinprick at birth (GUTHRIE TEST), measuring:
▪ T3/ T4/ TSH
▪ Thyroid auto-Ab
• Management:
o L-thyroxine should be started immediately after diagnosis to prevent neurodevelopment
delays
o Transient hypothyroidism (due to maternal) does not require treatment.
Acquired
• MOST COMMON = autoimmune thyroiditis (Hashimoto’s)→ Mainly in females→ Tx with thyroxine
o Abs vs thyroid peroxidase and thyroglobulin.
• Associated with: As well as other AI conditions e.g. vitiligo, RA
o Turner’s, Down’s syndrome
o Delayed puberty
- De-Quervains thyroiditis→ After viral→ Transient.
HYPERTHYROIDISM
- Result of Graves disease (AI thyroiditis) secondary to the production of thyroid-stimulating Ig
(TSI)→ Bind with TSH receptor→ Release of thyroid hormones
- Neonatal hyperthyroidism may occur if mother with thyrotoxicosis passes TSI transplacentally
- Clinical features: → are similar to adults but eye features are not as common

- Dx:
o TSH↓ but T3/T4↑, Anti-thyroid persoxismal Ab’s may be present → Leading to
hypothyroidism
- Tx:
o Carbimazole or propylthiouracil → Interfere with thyroid hormone synthesis
▪ S.E of neutropenia → Infections→ Sore throat, fever → Consult !!
o Beta-Blockers→ Symptomatic relief of anxiety, tremor, tachycardia
o Tx with meds continued for 2 years then stop but relapse occurs in 40-70% → Second
course of meds or→ RADIOIODINE treatment or surgery→ SUB-TOTAL THYROIDECTOMY
▪ Follow up thyroid replacement
ADRENAL DISORDERS

CONGENITAL ADRENAL HYPERPLASIA (CAH)

- Most common non-iatrogenic cause of insufficiency cortisol and mineralocorticoid secretion
- Autosomal recessive inheritance
o 90% with 21-hydroxylase deficiency→ needed for cortisol synthesis
▪ Inability to produce aldosterone→↑K+ and ↓Na+
- Lack of cortisol affects developing foetus → ↑ACTH causing overproduction of adrenal androgens
(↑testosterone):
- Presentation:
o In female infants→ Virilisation of the external genitalia + clitoral hypertrophy & labial fusion
o In infant males the penis is enlarged + pigmented scrotum with Salt wasting or tall stature
o Salt losing adrenal crisis (males)→ 1-
3wks of age with vomiting + weight
loss and circulatory collapse → This is
because virilization is noticed in girls
and Tx is started early
o Tall stature in non-salt losers with
muscular build, adult body odour +
pubic hair, acne→ Precocious pubarche
- Dx→ ↑K+, ↓Na+, metabolic acidosis and hypoglycaemia
- Tx:
o Affected females→ Corrective surgeries for their external genitalia
o Salt losing crisis→ Sodium chloride, Glucose, Hydrocortisone I.V
o Life long hydrocortisone → To suppress ACTH (hence testosterone)
▪ Additional should be given in times of surgery or infection
o Monitor growth, skeletal maturity and plasma androgens→ ↑Plasma androgens can cause
rapid initial growth at expense of final height
o Mineralocorticoid (fludrocortisone) if there’s salt loss

PRIMARY ADRENAL INSUFFICIENCY (ADDISONS DISEASE)

- Causes:
o X-Linked adrenoleukodystrophy→ A rare neurodegenerative metabolic disorder
o Haemorrhage/infarction→ Neonatal, meningococcal or septicaemia → N.meningitidis
o Autoimmune process→ Can be associated with other AI conditions e.g. DM, hypothyroidism
o Tuberculosis
o Secondary→ Pituitary dysfunction from H-P disease or H-P-Adrenal
suppression from steroid treatment
- Presentation
o Acute→ ↓Na+, ↑K+, Hypoglycemia, dehydration, hypotension, growth
failure, circulatory collapse
o Chronic→ Vomiting, Lethargy, Brown pigmentation→ Gums, scars, skin creases
- Dx→ labs with Na+, K+ and ↓cortisol levels and ↑ACTH + hypoglycaemia and metabolic acidosis
▪ ACTH will be ↓in pituitary dysfunction
o ACTH (Syncathen) test→↓ Plasma cortisol in primary adrenal and ↑ in H-P dysfunction
- Tx:
o I.V Saline + Glucose + Hydrocortisone
o Long term tx with glucocorticoid + mineralocorticoid replacement
▪ Steroid dose ↑ during infections & surgery
o Parents should be taught how to inject I.M Cortisol in emergency and child should wear an
MedicAlert bracelet or necklace/carry a steroid card.
CUSHING SYNDROME
- State of glucocorticoid excess
- Causes:
o ACTH independent→ Is usually a side effect of long-term glucocorticoid treatment
(I.V,Oral,inhaled, nasal or topical) for conditions like nephrotic syndrome or asthma
• Can lead to reduced adult height and osteopenia→ ↓risk if steroid taken in
morning alternate days
▪ Adrenocortical tumours
o ACTH dependant→ Pituitary adenoma or ectopic ACTH producing tumour (Small cell Ca) but
these almost never occur in children
- Presentation:
o We must differentiate obese from Cushing’s → obese kids are tall due to dietary excess
whereas Cushing’s they are short/growth failure
o Face + Trunk obesity
o Red cheeks
o Hirsutism
o Striae
o Hypertension
o Glucose intolerance
o Muscle wasting + weakness
o Psychological problems
o Osteopenia
- Diagnosis:
o ↑Midnight cortisol levels
o ↑ 24/hr free urinary cortisol
o Dexamethasome suppression test → Dexamethasone Given at night but ↑ cortisol at 09:00
o ACTH↑ if ACTH dependant cause e.g. pituitary adenoma or ectopic ACTH or ↓ in ACTH
independent cushings e.g. Adrenal adenoma, exogenous steroids
▪ Dx with HIGH dose dexamethasone suppression test
o CT/MRI to localise the tumour once a diagnosis of Cushing’s is made based on other tests ^^
- Tx
o Pituitary adenomas→ Transsphenoidal resection + radiotherapy
o Adrenal tumours→ Adrenalectomies + lifelong steroid treatment + fludrocortisone
Growth predictions
- Mid-parental centile comparator:
o Can use special chart where you mark the mother’s on one side, and the father’s on other,
and draw a line between. Mid parental percentile = where it crosses the line in the middle.
o Most children are ±2 centiles of mid-parental centile.
- Mid-parental height:
o Boys: [Mother’s height + father’s height]/2 +6.5cm ≤2nd percentile = -2SD
o Girls: [Mother’s height + father’s height]/2 -6.5cm ≥98th percentile = +2SD
- Target range = MPH ± 10cm.

SHORT STATURE
- = height <2rd percentile→ The shorter the child there more likely there will be a pathological cause
- Correct for height using MPH.
- Causes:
o Familial→ Short children from short parents
o Constitutional delay in growth and puberty(CDGP)→ Final height becomes normal
o Psychological neglect (→GH)
o Small for gestational age & Premature birth & IUGR
o Endocrine:
▪ Hypothyroidism ↓height + ↑weight
▪ GH deficiency or IGF-1 deficiency
▪ Cushing’s / Corticosteroid excess
▪ GH deficiency: bitemporal homonymous hemianopia. DO insulin tolerance test:
should cause a rise.
• At birth → neonatal hypoglycaemia + jaundice
• Doll-like face.
• Grow normally for first 12 months
• MARKEDLY REDUCED BONE AGE
o Dysmorphic syndromes: → Absence of Short stature homeobox (SHOX) gene
▪ Turner’s, Noonan, Down’s syndrome
o Long-term illness→ Coeliac disease, Crohn’s disease, CKD, CF (malabsorption, infections, ↑
breathing), Congenital heart disease (due to increased work of breathing), Asthma, RA, IBD
o Skeletal dysplasia:
▪ Achondroplasia (AD dwarfism) → Disproportionate short stature
▪ Hypochondroplasia
o Nutritional → insufficiency food/restricted diets

DIAGNOSIS
- Height velocity chart throughout growth can help identify when growth failure occurred
o 2 measurements at least 6 months apart can help calculate height velocity in cm/yr
▪ Done in specialist clinic as they depend heavily on ACCURACY
▪ The height of the child must be compared with the WEIGHT centile and his/her
genetic expected height (Average parent height + 7cm if boy or -7 if girl). The 9th to
91st centile range of this estimate is +/- 10cm in a boy and +/-8.5cm in a girl
- X-RAY of the left hand and wrist for BONE AGE→ Delayed in CDGP, hypothyroidism, ↓GH
- FBC → Anemia in coeliac disease or crohns (also ↑CRP)
- Creatinine + U&E→ ↑ in CKD
- Calcium and phosphate→ Renal & bone disorders For GH:
- Karyotype→ Turners syndrome 45XO - Initial screen: IGF-1 (will be low)
- TFTs→ TSH↑ in primary hypothyroidism. - Then do insulin tolerance test,
- Serum IGF-1→ Will be low measuring GH and IGF-1 after 2h.
- Coeliac Ab screen
- Dexamethasone suppression test→ Cushings
http://www.rajeun.net/boneage.htm
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TREATMENT
- GH deficiency→ biosynthetic GH subcutaneous injections daily→ Very expensive
o Very useful in prader-willi syndrome, CKD, SHOX def, IUGR and small for gestational age

** Red dot is the weight (lower) and height (upper) of a child who was born after IUGR**
o He is clearly below the 0.4th percentile for both weight + height ! making this guy more
underweight/shorter than 99.6% of all other kids born normally without IUGR.
 NORMAL PUBERTY
Females Height grows 4cm/year at onset of
- ≥8 years. puberty then slows down to
1. Breast development = 1st sign 2cm/year after the onset of menses
a. Gonadal sex steroid secretion until puberty is complete
2. Pubic hair and rapid growth spurt + body odor
a. Adrenal androgen production
3. Menarche: 2.5 years after start of puberty; signals growth spurt is coming to an end

Males
- Testicular enlargement: pulses of pituitary gonadotrophin
- ≥9
1. 1st sign = testicular growth (>4ml)
2. Pubic hair growth: follows testicular enlargement. Usually between 10-14 years.
3. Penis enlargement: gonadal sex steroid secretion
4. Height spurt (later than F, greater magnitude) and body odor
- May be transient imbalance of testosterone/ oestrogen at the beginning → gynaecomastea.

PREMATURE SEXUAL DEVELOPMENT

- The development of secondary sexual characteristics before 8 in females and 9 in boys
- There are different patterns of premature sexual development:
o Precocious puberty
o Premature breast development (thelarche)→ 6mo-2yrs→ Self-limiting, no axially hair
o Premature pubic hair development (Pubarche or adrenarche)→ 6-8yrs → Just pubes
o Isolated premature menarche
- Consequences→ Short stature due to premature fusion of growth plates * Insulin resistance

Precocious puberty
1) Gonadotrophin DEPENDENT→ ‘Central/True precocious puberty’) (↑LH & ↑FSH)
o More common in girls→ Ovaries are sensitive to gonadotrophins from pituitary
o FSH, LH, hCG
-PP in o Premature activation of the hypothalamic-pituitary-gonadal axis, caused by:
females= ▪ Idiopathic/familial
Premature ▪ Abnormalities of CNS
onset of • CNS trauma or injury
normal • Meningoencephalitis
puberty • Tumours: Craniopharyngioma, Harmatomas (of hypothalamous)
-GD-PP in • Hydrocephalus
boys= ▪ Hyperthyroidism
usually o Management:
pathological ▪ GnRH pulses are required for normal gonadal function
▪ HIGH levels of GnRH → gonadotrophins (paradoxically)
▪ Thus treat with SC GnRH analogue until 11yo.

2) Gonadotrophin INDEPENDENT: (‘Pseudo/False precocious puberty’)→ ↓LH & ↓FSH→ Rare

o Exogenous, e.g. testosterone creams etc.
o Adrenal source, e.g. Congenital adrenal hyperplasia; adrenal tumour
o Ovarian source e.g. tumour → granulosa cell
o Testicular source, e.g. testicular tumour→ Leydig cells
o Apparent LH excess, e.g.
▪ McCune-Albright
▪ Testotoxicosis
▪ HCG-producing tumour.
MANAGEMENT
- Detection and treatment of any underlying pathology→ Use MRI to find intracranial tumour
- Reduce the rate of skeletal maturation→ Early growth spurt= ↓height
- GnRH analogues to delay menarch, inhibitors of androgen + estrogen production or action
DELAYED PUBERTY
- Absence of pubertal development by 14 years of age in females and 15 in males
- Unlike PP, delayed puberty is more common in BOYS→ If in girls cause must be sought !

CAUSES
- Constitutional delay of growth and puberty/familial→ Most common → It’s a variation of
normal timing of puberty rather than a pathological condition.
o More common in boys→
▪ If worried, measure testicular volume (1st sign of puberty): if >4ml, they can be
reassured that they have entered puberty and the growth spurt will soon follow
▪ Tx not required unless wanted → Oxandrolone (weak anabolic steroid) helps
catch up growth but not secondary sexual characteristics and in older boys I.M
Testosterone causing catch up + secondary sexual characteristics
▪ In girls→ Estradiol can be given for several months to induce puberty
- Hypogonadotropic hypogonadism
o Systemic→ Cystic fibrosis, severe asthma, crohns disease, anorexia nervosa, starvation
o Hypothalamo-pituitary disorders→ Pituitary dysfunction, GH deficiency, intracranial
tumour, Kallmann syndrome (LH deficiency)
o Acquired hypothyroidism
- Hypergonadotropic hypogonadism
o Chromosomal abnormalities→ Kleinefelter syndrome (47XXY), Turner syndrome 45XO
o Steroid hormone enzyme deficiency
o Acquired gonadal damage→ Post-surgery, radiotherapy, trauma, AI

Puberty growth charts can detect delays in onset and progress.

Ix of delayed puberty:
1. Wrist X-ray for bone age.
2. LH/ FSH.

N.B. bone age is an index of physiological maturation, and correlates with the onset of
secondary sexual characteristics better than chronological age in delayed puberty.
• BA delayed in GH deficiency + constitutional delay
• BA advanced in CAH + precocious puberty

Assessed via LEFT wrist X-ray – examines epiphyseal plates.

GENERAL TERMS
- A seizure is a paroxysmal abnormality of motor, sensory, autonomic, and/or cognitive function, due
to transient brain dysfunction.
- Epileptic seizures are due to excessive and hypersynchronous electrical activity, typically in neural
networks in all or part of the cerebral cortex.
- A convulsion is a seizure (epileptic or non-epileptic) with motor components: Tonic, Clonic,
Myoclonic etc
- Epilepsy is a brain disorder where the patient has had ≥2 unprovoked epileptic seizure attacks

CAUSES OF SEIZURES

FEBRILE SEIZURES
- An epileptic seizure accompanied by a fever in the absence of
intracranial infection, usually <20 mins→ Most common cause of seizures in childhood
- Genetic predisposition exists and the condition occurs in children between 6mo – 6yrs old
- Early in viral infection when the temperature rapidly rises → Tonic-Clonic seizure→ Febrile seizure
- Febrile seizures don’t cause brain damage but child has a ↑ risk of developing epilepsy (1-2%)
o ↑ Chance of developing epilepsy if it’s a complex febrile seizure (4-12%)
- Mx→ Tx the cause of the fever (viral) or( bacterial→ Meningitis→ Neck stiffness + photophobia
won’t be as apparent in a <18mo child so do infection screen (Blood culture, urine culture etc)
o If bacterial is cause→ Treat with antibiotics
- Antipyretics if very hot → Paracetamol syrup/rectum → Although no solid evidence it helps
- If seizure >5mins → Buccal midazolam or rectal diazepam or IV lorazepam

PAROXYSMAL DISODERS
- In Non-epileptic cases or if uncertain if epilepsy exists→ We must rule out/consider aka Non-
epileptic paroxysmal events aka FUNNY TURNS because epilepsies can be misdiagnosed.
- Blue Breath holding spells→ Blue when Angry/upset
o When child is upset→ Cries and holds breath in expiration and turns blue→ Can lead to
brief loss of consciousness but with full recovery→ Drug Tx is unhelpful→ Tx with behaviour
modification
- Reflex asystolic syncope (aka Anoxic seizures)→ Family Hx exists usually→ Pain or discomfort
specifically from minor head trauma, cold food (Ice cream), fright or fever→ child turns PALE and
falls to floor→ Hypoxia can induce a generalised tonic-clonic seizure
o Epidodes are due to cardiac Asystole from vagal inhibition→ Brief seizure + recovery
o Ocular compression can also lead to asystole and lead to asystole
- Syncope (transient loss of consciousness) → Hot + humid environment, long standing→ Child faints
- Migraine→ Can cause paroxysmal headache + unsteadiness/light headedness
- Benign paroxysmal vertigo→ Recurrent episodes of vertigo + nystagmus + imbalance → Associated
with viral labyrinthitis
- Other→ Cardiac arrythmias (prolonged QT-interval→ Associated with exercise), Tics, daydreaming,
pseudoseizures, Fabricated seizure (by parent), Induced illness (hypoglycaemia→seizure), Medically
unexplained seizure
- To identify these from epilepsies→ Detailed Hx (Video?), Physical, EEG’s
EPILEPSIES
- Most epilepsies are genetic (idiopathic) with a complex inheritance
- They are classified into:
1) Generalized: Discharge arises from BOTH hemispheres→ Absence, myoclonic, tonic,
tonic-clonic, atonic→ They can occur in a combination or in a sequence
2) Focal/Partial: Discharge arises from ONE or part of ONE hemisphere → Manifestation
depends on the part of brain where discharge originates and where it moves to:
a. Frontal seizure→ Involve motor or pre-motor cortex→ Clonic movements which
travels proximally (jacksonian march) or tonic seizure with both arms raised high
b. Temporal lobe seizures→ Auditory or sensory (Smell or taste) Phenomena + Lip-
smacking and plucking at ones clothing or feeling of déjà vu
c. Occipital seizure→ +Ve or -Ve visual phenomena
d. Parietal Lobe seizures→ Contralateral altered sensation
- Focal seizures, Consciousness can be maintained/LOC and can evolve into a generalised seizure

DIAGNOSIS
- Mainly based on the Hx from child and parent → Sometimes they video record the seizure
- ECG→ 12 lead ECG is done in all children with seizures → Rule out arrythmias e.g. long QT-Syndrom
- EEG: → Can however appear normal in 50% of time
o Ictal EEG→ If seizure is frequent enough to catch it→ To DIAGNOSE IT
o Inter-ictal EEG→ Done when epilepsy is DIAGNOSED→ Help categorise it and assess severity
o Additional techniques→ 24hr ambulatory EEG or 5 day video-telemetry EEG
- Brain imaging:
o Structural→ CT/MRI → Routinely done in childhood epilepsies
o Functional→ PET and SPET → Metabolically active cells identified
- Metabolic investigations→ Indicated if theres developmental arrest or regression or if seizure is
related with feeds or fasting periods

MANAGEMENT
- Not all epileptic seizures require anti-epileptic drugs and the decision to give should be based on
the seizure type, frequency and social and educational consequences of the seizures against the
possible unwanted side effects the drugs.
- Principles:
o Monotherapy at minimum dosages→ To prevent seizures without ADR’s
o Children with prolonged epileptic seizures >5 minutes with LOC are given rescue therapy to
keep with them→ Usually buccal midazolam
o Anti-epileptic drugs should be discontinues after 2 years of being seizure free but is given
indefinitely to young Pt’s with Juvenile absence epilepsy or juvenile myoclonic epilepsy

- S.E: Valproate→ Weight gain, hair loss, teratogenic; Carbamazepine→ Rash, ataxia, hyponatremia
- Other treatment options:
o Ketogenic diets
o Vagal nerve stimulation→ delivered with externally programmed stimulation wire
o Epileptic surgery→ in well-localised structural causes/epileptogenic zones e.g.
hemispherotomy→ disconnection of the hemisphere
- Teachers should be aware of condition and know how to manage, avoid baths or swimming alone
- Status epilepticus→ ES >30 mins or repeated ES for 30mins without recovery of consciousness
EPILEPSY SYNDROMES
1) Infantile spasms (West syndrome)
- Onset→ 3-12 Months
- Seizure pattern→ Flexion of head + trunk + limbs followed by extension of arms lasting 1-2s 20-30x
- Tx. With Vigabatrin + Corticosteoids
2) Lennox-Gastaut syndrome
- Onset→ 1-3 years
- Seizure pattern→ Multiple seizure types (atonic, absence, tonic) in sleep
- Poor prognosis
3) Childhood absence epilepsy
- Onset→ 4-12 years
- Seizure pattern→ Momentary unresponsiveness + motionless, may twitch eyelids or mouth <30s→
No recal of what happened
- 2/3 are female and episodes can be induced by hyperventilation→ Good prognosis
4) Benign Rolandic epilepsy (benign epilepsy with centro-temporal spikes)
- Onset→ 4-10 years
- Seizure pattern→ Tonic-clonic seizure in sleep or focal seizure with awareness of abnormal feeling
- May not require drugs, remits in adolescence
5) Panayiotopoulos syndrome (early- onset benign occipital epilepsy)
- Onset→ 1-5 years
- Seizure pattern→ Autonomic features (vomiting, head + eye deviation)
- Remits in childhood
6) Juvenile absence epilepsy
- Onset→ 10-20 years
- Seizure pattern→Absence and generalised tonic-clonic seizures with photosensitivity
- Remission unlikely but responds well to Tx
7) Juvenile myoclonic epilepsy
- Onset→ 10-20 years
- Seizure pattern→ Myoclonic seizure, generalised tonic clonic seizure and absence after waking
- Remission unlikely but responds well to Tx
CENTRAL MOTOR DISORDERS
There are three central movement control centres:
1) Motor cortex→ Lying along the PRECENTRAL gyrus→ Informaition from here passes down
the corticospinal (pyramidal) tract to link with the basal ganglia.
2) Basal ganglia + Deep grey matter structures → Store patterns of movement so that we don’t
put conscious effort into every movement we make.
3) Cerebellum→ Controls posture, balance, coordination and speech.
Disorders of these:
- Corticospinal (pyramidal) tract disorders→ Weakness + Pattern of ADDUCTION at shoulder,
FLEXION at elbow and PRONATION of forearm, ADDUCTION + INTERNAL ROTATION at hip,
FLEXION at hip +knee and PLANTAR FLEXION at the ankle with HYPERREFLEXIA + Extensor
plantar response → Think of the body position of a child with cerebral palsy/ stroke patient
- Basal ganglia disorders→ Difficulty initiating movement, Dyskinesia (movements are jerky),
chorea or writing movement problem.
- Cerebella disorders→ Ataxia, dysmetria, dysdiadokinesia, nystagmus and scanning dysarthria

ETIOLOGY OF CENTRAL MOTOR DISORDERS

Cerebral palsy
- Permanent disorder of movement and/or posture and motor function due to a non-progressive
abnormality in the developing brain.
• 2/1000 births→ Most common cause of motor impairment in children.
• Most common cause of major movement disorder in children.
• Non-progressive CNS lesions sustained <2yo: → If after 2yrs = Acquired brain injury
o → some/ all of :
▪ Delayed motor development
▪ Evolving CNS signs (non-progressive, but emerge over time)
▪ Epilepsy
▪ Hearing impairment
• Prognosis = 20yo if quadriplegic; longer if less affected.

• CAUSES:
o 80% = antenatal
▪ Vascular occlusion, cortical migration disorders or structural maldevelopment
▪ Genetic syndromes
▪ Congenital infection: rubella, CMV, toxoplasmosis
o Hypoxic-ischaemic damage during delivery:
▪ Ischaemia → periventricular leucomalacia
o Post-natal:
▪ Meningitis/ encephalitis/ encephalopathy
 ▪ Head trauma
▪ Intra-ventricular haemorrhage
▪ Symptomatic hypoglycaemia
▪ Hydrocephalus
▪ Hyperbilirubinaemia (kernicterus)
• Features:
o Although the cause/lesion is non-progressive, clinical manifestations emerge over time
o Abnormal tone/ posture
o Delayed milestones
o Slow head growth
o Speech and language delay
o Difficulty feeding, gagging and vomiting
o Abnormal gait/ tiptoe walking
o Asymmetrical hand function/ hand dominance <12 months

• Types:
1) Spastic (90%):
▪ = damage to pyramidal pathways (→ pyramidal weakness) (Upper motor neuron)
▪ General features: tone and reflexes, clasp knife, flexed hip and elbow, ankle
plantar flexion.
▪ Spastic hemiplegia:
• Arm>leg
• Fisting of affected hand + Flexed arm + Pronated forearm, Tiptoe walk on
affected side
▪ Spastic quadriplegia: → Most severe
• Opsthotonus Trunk (extensor posturing) + poor head control
• Associated with seizures and microcephaly + Intellectual impairment
• swallow → aspiration pneumonia
▪ Spastic diplegia:
• All 4 limbs but Legs>Arms (may appear normal)
• Associated with periventricular damage
Scissor walking
▪ Spastic monoplegia: paralysis of 1 limb, usually an arm

2) Dyskinetic/ athetoid(6%):
▪ Choreiform movements, Athetosis (fanning of fingers), Dystonia (simultaneous
contraction of agonist + antagonist giving twisting appearance
▪ Intellectually relatively unimpaired
▪ Basal ganglia damage from kernicterus
3) Ataxic(4%):
▪ Genetically determined
▪ Uncoordinated movements, intention tremor
• Associated impairment→ Visual impairment, epilepsy,
contractures, scoliosis
• Diagnose:
o Developmental assessment/ screening
o CT/ MRI head
o EEG
• Manage:
- Symptoms,
- Family/ educational support
- Physiotherapy
- Muscle relaxants:
o Botox to gastrocnemius (to reverse plantarflexion)
o Baclofen – used intrathecally to control spasticity.
- Selective dorsal rhizotomy (a proportion of the nerve roots in the spinal cord are selectively
cut to reduce spasticity)
PERIPHERAL MOTOR DISORDERS

CLINICAL SIGNS
- Any part of the Lower motor neurone pathway can be
affected in a neuromuscular disorder: (Picture on Rt)
- Clinical signs:
o Hypotonia (Floppiness)
o Muscle weakness
o Delayed motor milestones
o Unsteady/abnormal gait
o Muscle cramps→ metabolic myopathy
o +Ve GOWER’s SIGN→ Up to 3yrs of age its
NORMAL to go prone to rise to a standing
position when they’re originally in supine
position. If child has positive Gowers sign
>3years its highly likely there’s a
neuromuscular disorder.
- Its also important to differentiate myopathy from
neuropathy:
o Anterior horn cell defect→ Sign of denervation
presenting as weakness, loss of reflexes,
fasciculations and wasting of the muscle.
o Neuropathy→ Motor neuropathy= Weakness,
Sensory neuropathy= impaired perception of
pain, temperature or touch with loss of reflexes in either one
o Myopathy→ Weakness (Proximal), wasting and gait disturbances
o Neuromuscular junction→ End-plate Ach stores depleted→ Diurnal worsening
throughout the day leading to fatiguability
- Investigations
o Myopathy
▪ Plasma creatine kinase: ↑in Duchenne & Becker
muscular dystrophy
▪ Muscle biopsy
▪ DNA testing→ Abnormal genes
▪ US / MRI of muscles
o Neuropathy
▪ Nerve conduction studies
▪ DNA testing→ For abnormal genes
▪ Nerve biopsy
▪ EMG→ Differentiates myopathic from neuropathic

DISORDER OF THE ANTERIOR HORN -- SPINAL MUSCULAR ATROPHY

- 2nd most common cause of neuromuscular disease in UK after Duchenne muscular atrophy.
- Autosomal recessive degeneration of the anterior horn cells→ Progressive weakness and
wasting of skeletal muscles due to mutations in SMN1 gene (Survival Motor Neurone 1)
- Spinal muscular atrophy type 0→ Dx in newborn’s, survival is only few weeks
- Spinal muscular atrophy type 1 (Werdnig-Hoffmann disease)
o Presents from birth – 3 months of age with typical signs:
▪ Alert expression
▪ Fasciculations of the tongue
▪ Symmetrical flaccid paralysis + Absent deep tendon reflexes
▪ Intercostal recession
▪ Weakness of bulbar muscles → Weak cry + poor suck with pooling of secretions
o Death occurs around 12th month of age due to resp failure
- Type 2 muscular atrophy present at 3 months – 15 months, can sit but not walk independently
- Type 3 muscular atrophy present after 1 year and do learn to walk
PERIPHERAL NEUROPATHIES
1. BELLS PALSY & FACIAL NERVE PALSIES
- Bells palsy is an isolated lower motor neuron paresis of CN7 (facial nerve)→ facial weakness
- Aetiology is unclear but is associated with a post herpes simplex infection or Lyme disease.
o Herpes virus invades the GENICULATE ganglion leading to formation of painful vesicles
on the dermatomal distribution + facial paresis → Tx with Aciclovir
o Some cases have been associated with sudden exposure to cold temperatures
- Mx→ Corticosteroids→ Reduces oedema in the facial canal→ Given in 1st week
o Recovery can take several months
- Complication→ Conjunctival infection due to incomplete eye closure on blinking→ Prevent by
lubricating eye drops or a patch and sometimes taping the eyelid shut at night during sleep
- Differential diagnosis:
o Brainstem lesion→ Suspect if recent CN6 paresis or ipsilateral cerebellar signs or
contralateral UMN sign
o Compressive lesion in cerebellopontine angle→ Suspect if recent CN8 paresis
o Hypertension→ Associated with Bells’ palsy and Coarctation of aorta and renal failure

2. GUILLIAN—BARRÉ SYNDROME (Acute post-infectious polyneuropathy)

- Occurs at any age typically 2-3 weeks after an upper respiratory tract infection or
campylobacter gastroenteritis→ Its thought Ab’s produced bind with myelin→ Dysfunction
o Ascending, progressive, symmetrical weakness
- Loss of tendon reflexes + autonomic involvement + loss of sensory function(distal limbs)
o Dysautonomia→ Tachycardia, Bradycardia, hypertension, orthostatic hypotension,
URINARY RETENTION, ILEUS, and loss of sweating.
- Involvement of the bulbar muscles → difficulty chewing and swallowing→ Risk of aspiration
- Recovery takes place within weeks although it can be years for some
- Ix:
o MRI of spinal cord → Exclude spinal cord lesion e.g. bleed, tumour, inflammation
o CSF WCC= Not raise
o CSF Protein= Raised → Can take 2 weeks to rise
o Nerve conduction studies→ reduced conduction velocity → Can present after 2wks
- Mx
o Supportive
o Hypoventilation (from resp muscles failing)→ Tx with Artificial ventilation
o IVIG / Plasma exchange may decrease ventilator dependant period

MUSCLE DISORDERS – DUCHENNE MUSCULAR DYSTROPHY

Duchenne muscular dystrophy
- X-linked recessive but 1/3 have de novo mutations affecting MALES
- Deletion mutation in gene for DYSTROPHIN which connects the cytoskeleton of a muscle fibre
to the surrounding ECM through the cell membrane.
- Defect causes influx of Ca2+ and breakdown of Ca2+-Calmodulin complex→ ↑ Free radicals and
eventual necrosis of myofiber → ↑↑Creatine kinase
- Sx generally develop between 2-4yo Female carriers at risk of
- Wheelchair bound by 12yo dilated cardiomyopathy.
- Die in 30s from heart or respiratory failure → infections.
- Features:
o Pseudohypertrophy of calves (lay down fatty hard tissue)
o PROXIMAL MUSCLE WEAKNESS → waddling gait
o Gower’s sign: patients have to crawl onto arms to get up from floor
o Scoliosis and contractures
o Dilated cardiomyopathy
o Mild LD.
- Diagnosis:
o DNA analysis
o CK, muscle biopsy and EMG
o ALT
 - Management
o Supportive
o Home ventilation improves prognosis (CPAP or NIPPV)
o Physiotherapy to prevent contractures
o Surgery for scoliosis
▪ Preventative measure of scoliosis is corticosteroid use → Unknown mechanism

Becker’s muscular dystrophy

- X-linked recessive→ But caused by a different mutation in the same gene (Allelic)
- Also mutation in the gene coding for dystrophin, but just leads to less being produced as
opposed to none. → Symptoms are milder
- Onset is around 11 years old with loss of ambulation in late twenties
- Much slower onset than DMD; often almost normal lifespan
ABNORMAL HEAD GROWTH
• Posterior fontanelle closed at 8 weeks
• Anterior closed at 12 – 18 mo.
• 33-35cm at birth; 1cm/ month for first year.
• Microcephaly:
o = head circumference ≤2nd percentile.
o Causes:
▪ Familial→ Present at birth
▪ If with developmental delay → Patau (trisomy 13)
▪ Congenital infection
▪ Insult to developing brain, e.g. cerebral hypoxia (accompanied by cerebral palsy)
▪ Craniosynostosis: one or more sutures fuses prematurely.
• Macrocephaly:
o = Head circumference ≥98th percentile
o Rapid increase in head circumference → ↑ICP due to hydrocephalus, subdural
hematoma or brain tumour→ Investigated promptly by cranial US if anterior fontanelle
is open otherwise CT or MRI.
o Causes:
▪ Tall stature
▪ Familial macrocephaly
▪ ICP → MRI/ CT
• Hydrocephalus
• Subdural haematoma
• Cerebral tumour
• NF
▪ Cerebral gigantism (Soto syndrome – also tall stature)
▪ CNS storage disorder e.g. mucopolysaccharidosis (Hurler syndrome)

Neural tube defects

• Form from the failure of normal fusion of the neural plate to form the neural tube during the
first 28 days after conception.
• If 1st child affected, theres a 10x ↑chance o 2nd fetus being affected to ↓ risk= Folic acid supp
• Folic acid supplementation risk:
o Low dose (0.4mg OD) for everyone (from before conception to 13 weeks)
o High dose (5mg OD) for RFs:
▪ Previous child with neural tube defect HOPED:
▪ Haemolytic anaemias, e.g. SC Haemolytic anaemia
▪ DM Obese
▪ Obese Previous baby with NTD
▪ Anti-folates, e.g. anti-epileptics, co-trimoxazole. Epileptic medication
• Detection: DM
o Blood testing: AFP
o Amniocentesis (AFP in amniotic fluid) – CVS does NOT indicate whether or not
NTDs.
o USS scans at booking and 20 weeks.
o N.B. chorionic villous sampling CANNOT detect neural tube defects.

Different defects
• Anencephaly:
o Failure of development of most of the cranium and brain
o Die in utero/ shortly after
o Can be detected by antenatal USS→ Termination of pregnancy can be offered
o More commonly FEMALE.
• Encephalocele:
o Brain and meninges herniate through weakness in skull.
o Can be corrected surgically but usually underlying cerebral defects.
 • Spina bifida occulta
o Failure of fusion of the vertebral arch
o Sometimes not noticed until born, if skin closed over → USS/ MRI.
o However may be overlying skin lesion, e.g. tuft of hair, lipoma, birth mark
o With growth, tethering of the cord → weakness and spasticity in lower limbs,
incontinence, constipation etc.
• Meningocele and myelomeningocele:
o Usually good prognosis following surgical repair
o Meningocele:
▪ Protrusion of meninges (filled with CSF) through a defect in the wall of the skull/
spine
o Myelomeningocele:
▪ Open spinal cord with meningeal cyst.
▪ Associated with:
• Variable paralysis/ weakness/ imbalance of legs→ Physiotherapy
• Sensory loss→ Skin care to avoid ulcers
• Bladder denervation (neuropathic bladder) → often retention. May
require intermittent catheterisation. Risk of recurrent UTI.
• Neuropathic bowel→ Regular toileting, laxatives and suppositories
• Sexual dysfunction
• Scoliosis→ Monitored, may require surgical tx
• Hydrocephalus from Arnold-Chiari malformation

Hydrocephalus (HC)
• = obstruction of CSF flow → Accumulation of CSF in brain→ dilation of ventricles (proximally)
o Non-communicating HC = obstruction within ventricles
▪ Congenital malformations:
• Aqueduct stenosis
• Atresia of the outflow of the 4th ventricle
• Chiari malformation→ Cerebellar tonsil herniates though foramen magna
▪ Acquired:
• Posterior fossa neoplasm or vascular malformation
• Intraventricular haemorrhage in pre-term
o Communicating HC= obstruction at arachnoid villi (Failure to reabsorb CSF)
▪ Sub arachnoid haemorrhage
▪ Meningitis → Pneumococcal, tuberculous
• Presentation:
o Disproportionately large circumference (IF sutures have not fused)
o Separated sutures→ Bulging anterior fontanelle + scalp veins becoming apparent
o Fixed downwards gaze (setting sun sign) → Advanced sign
• In suspected hydrocephalus:
o Cranial USS
o CT/ MRI
o Monitor head circumference on charts
• Mx:
o Insertion of ventriculoperitoneal shunt
o Risks: → Malfunctioning of shunt due to blockage:
▪ Infection from coagulase –ve staph [Staph epidermidis])
▪ Over drainage → low pressure headache
o Surgery to create a ventriculostomy is also possible but as alternative (2nd line)
 - GLOBAL developmental delay (aka early developmental impairment) implies there’s a delay in
ALL skill fields→ Gross motor, fine motor, vision, hearing & speech, language, cognition,
social/emotional
- SPECIFIC developmental impairment is when one skill area is more delayed than others

Features which may suggest neurodevelopmental concerns by age

- Prenatally
o Positive family history (sibling or other family member)
o Antenatal screening tests e.g. USS including nuchal thickness, amniocentesis
- Perinatally
o Asphyxia during birth/neonatal encephalopathy
o Pre-term infant with intraventricular haemorrhage/periventricular leukomalacia
o Abnormal neurological behaviour → Tone, movement, seizures
- Infancy
o Delayed or asymmetric motor development
o Vision or hearing concerns by parent or after screening
- Pre-school
o Speech & language delay
o Abnormal gait, clumsy motor skills
o Poor social communication
o Behaviour → Stereotypical, overactivity, inattention
- School age
o Learning difficulties
o Attention control
o Hyperactivity
- Any age→ Acquired brain injury (after meningitis, trauma) or loss of skills
- A key feature is that the gap between normal and abnormal development becomes greater with
increasing age, and therefore becomes more apparent over time

Conditions causing abnormal development + learning difficulty

Type Causes
Perinatal • Hypoxic-Ischaemic encephalopathy
• Intracranial haemorrhage
• Teratogens (alcohol, drug abuse)
• Periventricular leukomalacia (→ spastic diplegia
cerebral palsy)
Metabolic • Hypothyroidism
• Inborn errors of metabolism (PKU)
• Hypoglycaemia
• Hyperbilirubinaemia (kernicterus)
Infection • Meningitis
• Encephalitis
Genetic • Chromosome disorders (Down’s, fragile X)
• Duchenne muscular dystrophy
Neurodegenerative disease • Tay-Sachs syndrome
• Adrenoleucodystrophy
Anoxia • Suffocation, near drowning, seizures
Trauma • Head injury
Other • Physical abuse, Emotional neglect
ABNORMAL MOTOR DEVELOPMENT
- Causes of abnormal motor development:
o Central motor deficits→ Cerebral palsy (most common)
o Congenital myopathy/primary muscle disease
o Spinal cord lesions→ Spina bifida
o Global developmental delay, as in many syndromes or unidentified cause
- Asymmetry of motor skills in 1st year of life→ Hemiplegia
o Hand dominance is not acquired yet until 1-2 years of age or later
- Late walking >18 months old

DISORDERED SPEECH AND LANGUAGE DEVELOPMENT

- A deficit regarding speech & language can be expressive or receptive or both
- DELAYS in speech and language may be due to:
o Hearing loss
o Global developmental delay
o Anatomical deficit→ Difficult speech production e.g. in cleft palate, oromotor
incoordination (Cerebral palsy)
o Environmental deprivation→ Lack of social interaction
o Normal→ Familial pattern
- DISORDERS in speech & language include disorders of:
o Language comprehension
o Language expression→ Difficult to saying something while you know what must be said
o Intelligibility and speech production e.g. stammering, dysarthria
o Pragmatics (Difference between meaning of sentence of speakers meaning)
- Tests for language development:
o Symbolic tests→ Assess very early language development
o Reynell test→ For receptive and expressive language, used in preschool children

ABNORMAL DEVELOPMENT OF SOCIAL/COMMUNICATION SKILLS (autism spectrum disorders)

- Presentation is 2-4 years of age when language and social skills normally rapidly expand
- Features of autism spectrum disorders:
o Impaired social interaction→ Does not seek comfort, form close friends→ Prefers to be
alone and has no interest in interacting with peers. GAZE AVOIDANCE
o Speech & Language disorder→ Delayed development with limited use of gestures and
facial expressions, monotonous voice
o Imposition of routines with ritualistic and repetitive behaviours→ On self or others and
can become violent if disrupted, can be presented as unusual movements such as hand
flapping or tip-toe gait
o Comorbidities→ Learning + Attention difficulties, seizures, mental health disorders
- Diagnosis of autism is through Autism diagnostic interview, observation schedule and
interview for social and communication disorders.
- Management→ Behaviour modification with applied behavioural analysis to reduce ritualistic
behaviour and help them with language development and social skills→ <10% can be
independent as adults

SLOW ACQUISITION OF COGNITIVE SKILLS/GENERAL LEARNING DIFFICULTY

- The term ‘Learning difficulty/disability’ has replacement mental retardation/handicap
- Mild/Borderline IQ (70-80)→ Additional support e.g. assistants in normal schools to help
- Moderate (50-70), Severe (35-70) and profound (<35) → Special schools for learning

SPECIFIC LEARNING DIFFICULTY

- Developmental coordination disorder (Dyspraxia)→ Disorder or motor planning and/or
execution with no significant finding on neurological examination→ Disorder of higher cortical
processes which may be associated with perception and use of language and thoughts giving
rise to academic difficulties→ Handwriting, dressing, cutting up food etc.
o Mx→ Speech and language therapist
 - Dyslexia → Disorder of reading which is disproportionate to the child’s IQ i.e. the child reading
age is >2 years behind their normal ages capability
o Assess Vision + Hearing and Manage with educational psychologist
- Attention deficit hyperactivity disorder→ Most common in MALES (3:1) and heavily
GENETICALLY related→ Overactive child in most situations with impaired concentration with
short attention span and distractibility → Associated with dysfunction in the neuronal circuits
which rely on dopamine as a neurotransmitter for self-control in general.
o Child may have problems with taking turns/sharing, interrupting other people’s
conversations and play, fidgety and disorganized.
o Dx→ Educational psychologist
o Mx→ Mild/Moderate ADHD→ Behavioural and education advice to help them
concentrate and build their skills. But if ineffective or severe ADHD then children >6
years old can have stimulants → METHYLPHENIDATE or non-stimulants→
ATOMOXETINE to reduce the excessive motor activity and improve concentrations
▪ Some research suggests sugars, food additives and colourants cause the ADHD so
stopping these may help, also avoid giving caffeine

HEARING IMPAIRMENT
- Any child with delayed language/speech, learning difficulties or behavioural problems should
test their hearing tested!!
1) Sensorineural HL→ Lesion in chochlea or auditory nerve→ usually presents at birth and is
irreversible
a. Genetics (mainly)→ Preterm
b. Perinatal→ Congenital infection, hypoxic ischemic encephalopathy, Hyper Br-emia
c. Postnatal→ meningitis/encephalitis, head injury
d. Tx→ Amplification or cochlear implant, Sit child at front of class, special deaf schools
2) Conductive HL→ Lesion in ear canal or middle ear→ Associate with otitis media + effusion
a. OM + Effusion (glue ear)→ Most common
b. Eustachian tube dysfunction→ Down Syn, Cleft palate
c. Dx→ Impedance audiometry tests
d. Tx→ Conservative (decongestants, Abx), amplification or surgery (Tympanostomy)
with/without removal of adenoids→ Associated with upper resp infections.

ABNORMALITIES OF VISION AND THE OCULAR SYSTEM

- Visual impairment can present with:
o Obvious malformations→ Anophthalmia, Absent red reflex, absent white reflex→
Associated with opacification of the intraocular structures, corneal abnormalities or an
intraocular tumour (retinoblastoma)
o Not smiling at 6wks post term, poor eye contact, nystagmus, squint
- Nystagmus→ Involuntary rhythmic eye movement horizontally or vertical (rare) and
associated with structural eye problem, problem at cortical level or idiopathic
- Squint (Strabismus)→ Misalignment of the visual axis→Can have a family history but can be
associated with cataracts, retinoblastoma and other intra-ocular diseases.
o Transient misalignment is common up to 3 months of age→ If >3mo→ Opthalmologist
o Any child W/ squint→Corneal light reflex test (non-specialist) OR Cover test (specialist)
1) Concomitant (non-paralytic- Common)→ Due to refractive error, fixed with glasses
2) Paralytic (rare)→ Due to paralysis of motor nerves→ Space occupying tumour
- Refractive errors
o Hypermetropia (long sighted)→ Most common in child→ overcome by accommodation.
▪ Corrected with CONVEX (Plus+) lenses making the eye look bigger
o Myopia (Short sighted)→ Common in adolescence
▪ Corrected by CONCAVE (Minus-) lenses making the eye look smaller
o Astigmatism (Abnormal curvature of cornea)→ unilateral can cause amblyopia
o Amblyopia→ Permanent ↓ in visual acuity in the eye hat had not received clear image,
usually unilateral but can be bilateral also→ Due to squints, refractive errors, cataracts.
▪ Brain cant combine differing images so ‘turns off’ affected eye to avoid diplopia
▪ Tx: underlying condition, if Squint→ Patch the good eye to force lazy eye to work
ACCIDENTS
- Second most common cause of death in England/Wales after malignant diseases in children
- Majority of the deaths account to road traffic accidents, Drowning and Suffocation
- Younger children are typically affected by accidents at home e.g. falling down the stairs or
trapping fingers in car doors whereas older children are involved mainly with road traffic
accidents and is mainly associated with high-risk behaviours and underestimating danger

ACCIDENT PREVENTION

HEAD AND NECK INJURIES

1) Primary damage
a. Injury to neural tissue
i. Focal cerebral contusions & Lacerations
ii. Diffuse axonal injury
b. Injury to blood vessels
i. Extradural(oval→ Pic), Subdural(Crescent), Subarachnoid
haemorrhages
c. Penetrating injuries
2) Secondary damage
a. Cerebral odema
b. Hypotension Initial assessment and management
c. Hypoxia
d. Hypoglycaemia
e. Seizures
f. Infection
(Later)
Basic Life Support
1. D, R (stimulate/ voice)
2. Shout for help
3. Lie flat (to circulation to head).
4. A:
a. Check inside for any foreign bodies – suck if necessary
b. Head tilt chin lift (‘sniffing the air’) – in baby, do not head tilt chin lift (head in neutral
position)
c. Jaw thrust
5. B:
a. Look for breaths, listen for breathing and feel on cheek for 10s.
i. → at this point call 2222.
b. 5 initial rescue breaths.
i. Infant: mouth over mouth and nose
ii. Child: pinch nose and mouth-to-mouth
c. Reassess breathing, WHILE DOING PULSE.
6. Assess for signs of life: movements, coughing, normal breathing
a. <1yo → brachial, femoral
b. >1yo → carotid, femoral
c. If pulse <60bpm = cardiac arrest in child:
i. Compressions 15:2, rate 100 bpm.
1. Infant → 2 fingers if solo, if 2 people: 2 thumbs on sternum, support back
with hands.
2. <8yo → base of hand
3. >8yo → normal 2-hand technique.
7. After 1 minute, you can stop → go call an ambulance.
a. Then continue until you tire/
life returns/ help arrives.

Advanced Life Support

• Essentially the same as with adult,
except that:
o CPR = 15:2
o Adrenaline = 0.1ml/kg
1:10,000
o Amiodarone = 5mg/kg, after
3rd and 5th shock

ABCDE assessment of a child

1. D, R, call for help.

2. A & B:
o Look: airway obstruction,
respiratory distress, RR,
cyanosis, accessory muscle use
o Feel: breath, chest expansion,
percuss
o Listen: auscultate, stridor,
wheeze, cough
o Measure: SOCRAP
o Treat: 100% O2, 15L/ min
through non-rebreathe.
3. C:
o Look: pallor, oedema, JVP,
bleeding
o Feel: apex beat, HR, cap refill
o Listen: heart sounds
o Measure: BUUTCHE
o Treat: IV access only if
necessary, fluids, take bloods.
4. D:
o Consciousness (AVPU)
o Posture: hypotonia, decorticate,
decerebrate.
o PEARL
o GLUCOSE
5. E:
o JACCOL
o Abdo/ neuro examinations.
INTERNAL INJURIES
- Young children have less fat and more elastic skeleton protecting their internal organs→
Impact force as a result will be distributed widely throughout the body→ ↑ Risk of
multisystem trauma compared to adults.
- Abdominal Injuries:
o Blunt trauma associated (Seat belt/bicycle handle)→ Liver + Spleen rupture becoming
apparent quickly whereas pancreatic and bowel injuries take longer to present.
o Focused Abdominal Sonography in Trauma (FAST) + Clinical judgement to Dx
o Tx→ Paediatric surgery !
- Chest injuries:
o Pneumothorax, haemothorax, haemopericardium → associated with blunt trauma
CHOKING
• 1st = encourage spontaneous cough = most effective. If they are a baby, they will not understand,
so go straight to blows.
• If unable to cough:
o <1yo:
▪ Back blows: (b)
• Lie on front, down your arm with your hand supporting chin/ head in
hand
• 5x upwards blows between shoulder blades
▪ Thrusts: (a)
• Lie baby on back, supporting head
• Push upwards in mid chest with 2 fingers, 5x.
▪ If unsuccessful, return to back blocks, then thrusts again.
o >1yo:
▪ Back blows:
• Can lie across lap, supporting head → 5x back blows
▪ Thrusts:
• Heimlich manoeuvre (ensure hands are between
xiphisternum/ umbilicus, and NOT on ribs/ sternum).
• Hand over fist.
• 5x upwards thrusts.

DROWNING
• Respiratory impairment → Hypoxaemia/ inadequate perfusion → acidosis, arrhythmia, shock
o Babies/Toddlers→ Baths, Swimming pools, Garden ponds
o Children→ Canals, Lakes, Sea
• Management:
o AB:
▪ Immobilise neck: there may be C-spine injury
▪ Airway may be obstructed with material from the water.
▪ If no gagging → intubate using Guedel.
o Undress of all wet clothes; warm using electric blanket.
• Respiratory arrest can occur up to 72h after, due to pulmonary oedema.
• May have aspirated water → 2o pneumonia.
BURNS & SCALDS
SYMPTOMS
- Soot in nasal/oral cavities ?
- Cough (With black sputum), Hoarseness, Stridor,
Dyspnea
- Blistering around mouth
- Scorched eyebrows or hair
- Circulation→ May be compromised due to fluid loss
from burns
- Confusion/ dizziness/ coma if brain
- Important to ask:
o Mechanism, Duration of exposure, LOC ?
o Environmental factors (closed or open)

INVESTIGATIONS
- ABG
- COHb→ Carboxyhaemoglobin
Lund & Browder chart
- FBC + crossmatch
- Bloods
- CHILD PROTECTION.

MANAGEMENT
- Burn First Aid
o Cool the area with cold running water for 20
minutes but avoid hypothermia
o Chemical burns→Irrigated
o Plastic (Cling film) applied on top to limit evaporation from burn area
o Pain relief→ Intranasal opiates
o Body Surface area calculated (Lund)→ Determines the need for admission/Fluid admin
o Burn depth assessment should be attempted
- Further management:
o Pain relief → I.V Morphine or Ketamine
o Maintaining circulation→ I.V Fluids (20ml/Kg) is required if:
▪ Infant → >10% Body burnt
▪ Child → >15% Body burnt
▪ Monitor urine output to assess adequacy of fluid replacement
• ~1ml/Kg/hr (Adults is 0.5ml/Kg/hr)
- Partial thickness burns >5% body SA should be referred to specialist (not <5%)
- All burns of face, ears, eyes, hands, feet, genitalia, perineum regardless of SA→ Specialist
- All burns, the possibility of inflicted injury should be considered → Child protection!

Assessment of Depth
POISONING
1. Accidental→ Common in young children→They consume small amounts→ Low risk of serious harm
2. Deliberate self harm/Experimentational→ Adolescents/young people
o Self harm is usually by ingestion of LARGE amounts of OTC meds e.g. aspirin etc
3. Iatrogenic→ Drug errors made by health professionals
4. Intentional→ By parents/carers→ Rare
TOXICITY MEDICINES HOUSEHOLD PRODUCT GARDEN
LOW Oral contraceptives, Most Antibiotics, Liquid soap & washing Animal faeces ☺,
topical hydrocortisone up liquid, lipstick, fish slugs, compost
food
HIGH Opiods, BB, TCA, Paracetamol, Iron, Bleach, oven cleaner, Pesticides,
Salicylates antifreeze Organophosphates,
mushrooms
- Chronic environmental poisoning→ Young children are at ↑ risk due to smaller bodies and their
developing brains→ Main problem is LEAD → Contamination of water supplies by mining/factories:
o Behavioural changes, ADHD developmental delay, severe cases→ Seizure/coma etc.
o Tx→ Prevent further exposure + CHELATION therapy for acute symptoms

GENERAL APPROACH TO AN INTOXICATED CHILD

- Identify the agent:
o Exactly what was taken (name) → Ask parents, friends OR assess Symptoms if Hx is not clear
- Determine toxicity of agent→ What DOSE was ingested and TIME since ingestion
- Is reduction of absorption possible/Indicated ?
o Activated charcoal: → If within 1h of ingestion→ 1g/kg up to 50g→ Reduces absorption
▪ Do not use if risk of aspiration
▪ Do not use after alcohol, iron, boric acid, caustics, lithium or electrolyte solutions.
o Gastric lavage:
▪ May be useful if within 1h with the use of saline
o Bowel irrigation: can be used with heavy metals.
o Enhanced elimination:
▪ Urinary alkalinisation – for weak acids (salicylates, barbiturates)
▪ Use IV NaHCO3 (sodium bicarbonate) + maintenance fluids
o Haemodialysis (BLAST ME): Barbiturates, Lithium, Alcohol, Salicylates, Theophyline,
Methanol, Ethylene glycol.
- Are investigations indicated?
o FBC, LFT’s, Kidney, ECG, Urine toxicity screen, specific blood concentrations (Paracetamol,
iron, salicylates, alcohol)
- Clinical management
o Specific management→ Antidote, prevention of future occurences (psychiatrist assessment)

Physical findings to help identify difference classes of drugs in OD→ If patient is UNRESPONSIVE
 Jaundice + ↑ LFTs <24h
Hepatomegaly >24h

Opiates
o Bradycardia, hypotension,
pinpoint pupils, nausea,
respiratory depression →
pH
o Naloxone IV 10ug/kg

Beta- Blockers
o Hypotension, bradycardia,
heart block, HF
Reye’s syndrome!! →
Encephalopathy days
o Atropine, glucagon (glucagon
after febrile illness
not effective if concurrent
alcohol)

Cocaine
o Mydriasis, seizures,
hyperthermia, metabolic
acidosis, rhabdomyolysis
o 1st line = benzodiazepines
o Chest pain: benzodiazepines +
GTN
Present DRUNK without
smelling of alcohol
o HTN: benzodiazepines +
sodium nitroprusside

Ecstasy
o Agitations, anxiety, confusion,
ataxia, tachycardia,
hypotension, hyponatraemia,
hyperthermia, rhabdomyolysis
Correct acidosis with
o Mx:
fluids and BICARBONATE
▪ Supportive
▪ Dantrolene if severely
hyperthermic
Immunodeficiency may be:
1. Primary(uncommon): Genetically determined defect in the immune system
2. Secondary: cancer, immunosuppressive agents (Chemo/Steroids), HIV infection, splenectomy,
nephrotic syndrome, Sickle cell, etc.

PRESENTATION OF IMMUNODEFICIENCY
- Recurrent (proven) bacterial infections
- Severe infections (e.g. meningitis, osteomyelitis, pneumonia)
- Infections are unusually severe or chronic or fail to respond to regular treatment
- Infections by an unexpected / opportunistic pathogen or if child has immunization against it
- Severe or long-lasting warts, generalized molluscum contagiosum
- Complications following live vaccinations (e.g. disseminated BCG)
- Abscesses of internal organs; recurrent skin abscesses
- Prolonged or recurrent diarrhoea (often combined with faltering growth).

INVESTIGATIONS (Primary defects) Suspect Immunodeficiency IF:

- Cellular (T-Cell) defects: ▪ Severe
o FBC ▪ Prolonged
o Ly Subset (CD3+→ Total T-cell), CD4+ and CD8+ ▪ Unusual
o Ability of T-cell to proliferate in response to mitogen ▪ Recurrent infection
- Antibody (Humoral; B-cell) defects:
o Ig Levels (ADEMG)
o IgG subclasses in >2yr old child
o Specific Ab responses (to vaccines e.g. Tetani)
o Ly Subsets
- Combined B & T cell defects:
o All above investigations + Specific genetic/molecular test for SCID (severe combine ID)
- Neutrophil defects:
o FBC (Neu levels)
o NBT test→ Abnormal in chronic granulomatous disease
o Test for Leu adhesion deficiency (CD11b/CD18 expression)
o Test for chemotaxis→ Neu mobility
- Complement/Mannose-binding lectin defects:
o Tests of classical and alternative complement pathways
o Assays for individual complement proteins
o Mannose-binding lectin levels

MANAGEMENT (of Primary ID)

- Antimicrobial prophylaxis:
o T-cell & Neu defects→ Co-trimoxazole to prevent PCP and Itraconzaole or Fluconazole
for other infections
o B-cell defects→ Antibiotic prophylaxis→ E.g. Azithromycin to prevent recurrent
bacterial infections (Chest, sinus etc)
- Antibiotic treatment (For acute infection) → Needs to cover likely organism
- Screening for end-organ disease:
o CT-Scan→ In Children with Ab deficiency to check for bronchiectasis
- Replacement immunoglobulins and additional immunization;
- Bone marrow transplantation;
o E.g. for SCID
- Gene therapy
CLINICAL PRESENTATION OF PRIMARY IMMUNODEFICIENCY
CAUSES OF INFECTION
- Neutropenia→ G-ve organisms, candidia, aspergillus
- T- cell deficiencies→ Herpes virus, intracellular organisms, fungal infections, pneumocystitis
jivoceii
- Ab def→ Encapsulated organisms (HIB/PC), cryptosporidium, enterovirus, giardia, atypical
bacteria
- Complement→ Meningococcus, S.aureus, encapsulated organsisms
- Phagocyte deficiency→ staphs & streps, salmonella, g-ve, candidia, aspergillis
- Asplenism→ encapsulated

HIV in children
• Transmitted from mother:
o Intrapartum
o Breastfeeding
• HIV +ve mother:
o Start HAART as soon as diagnosed in pregnancy
o C-section if detectable viral load (>50)
o Zidovudine to baby for 4 weeks
o No breastfeeding.
• Diagnosis:
o Ab detected in children >18mo
▪ (If +ve mother, they can only be declared as HIV –ve after a –ve test at 18mo)
▪ When younger: will still have maternal Ab present
o Therefore more sensitive to do viral PCR
▪ 2 -ve PCRs in the first 3 months of life, >2 weeks after completion of post-natal
anti-retroviral therapy = infant –ve.