Immunisations up to date?

History Taking • 2 months – DTP/polio/Hib, rotavirus, pneumococcal, MenB

• 3 months – DTP/polio/Hib, rotavirus, MenC

Extra topics in a paediatric history • 4 months – DTP/polio/Hib, pneumococcal, MenB

• Birth history • 1 year – Hib/MenC, pneumococcal, MenB, MMR
• pregnancy – any problems, maternal illness, drugs
• preschool – DTP/polio, MMR
• gestation (37-40wk) and birth weight (2.5-4.5kg)
• mode of delivery and complications • 12-13 years – HPV
• neonatal problems – jaundice, fevers, bleeding etc
• teens – diphtheria/tetanus/polio, MenACWY
• Feeding history
• breast/bottle (<12month) – which one, how much
• weaning (6-12month)
• solid meal and cows milk (>12month)
• toilet training (day dry by 2yr, night dry by 3-4yr) Psychological interview for adolescents
• wet nappies – 5 wet per day, 3 yellow stools • Home and environment
• Growth
• weights – red book • Education and employment Definitions
• puberty – 10/11 girls, 12/13 boys • Activities • Neonate – < 28 days
• Development • Infant – 1 to 12 months
• Drugs
• any concerns
• • Toddler – 1 to 3 years
school progress and attendence • Sexuality
• developmental screen in <5 years • Pre-schooler – 3 to 5 years
• Suicide and depression
• School age – 5 to 12 years
• Adolescent – > 13 years
Vital Signs
Heart Rate Resp Rate Sys BP

< 1 year 110 – 160 30 – 40 70 – 90

1 to 2 years 100 – 150 25 – 35 80 – 95

2 to 5 years 95 – 140 25 – 30 80 – 100

5 to 12 years 80 – 120 20 – 25 90 – 110

> 12 years 60 – 100 15 – 20 100 – 120

Recognising a Sick Child
Safety, Stimulation, Shout for help
LOOK LISTEN FEEL MEASURE
Airway Any obstruction? Stridor?
Breathing Air entry Chest expansion Resp rate
Breathing Cyanosis Breath sounds Percussion Sats
Signs of distress Wheeze Trachea Peak flow
Pallor Peripheral pulses Heart rate
Heart sounds
Circulation Cyanosis Liver edge Blood pressure
Murmurs
Dehydration Cool peripheries Cap refill
AVPU or GCS
Disability Glucose
Pupils
Rashes
Exposure Bleeding Abdo exam Temperature
Bruising
Stridor

Upper airway obstruction

Tracheal abnormality

Croup

Tonsillar abscess (quinsy)

Epiglottitis
Cough and Wheeze
Epiglottitis
• H influenzae
• P: 2-4yr with sepsis and inability to talk or swallow, Anaphylaxis
leaning forward to maintain airway Laryngomalacia
• T: intubation and IV abx (cefotaxime)
Trachea
Croup (laryngotracheobronchitis)
• Parainfluenza of all upper airways
• P: coryzal sx  stridor  wheeze  barking cough
• T: neb budesonide, oral dexamethasone

Inhaled foreign body

• P: history of choking, unilateral wheeze, sudden onset
Red Flags
Bronchiolitis Tachypnoea > 60/min
• RSV, adenovirus, influenza, parainfluenza Recession: subcostal or intercostal
• P: widespread wheeze, crackles, Nasal flaring
Expiratory grunting
Cyanosis
Stridor
Inspiratory noise caused by narrowing of the upper airway
Common in young children, but has the potential to be
life-threatening e.g. if inhaled foreign body or acute
epiglottitis.

Upper airway obstruction

Tracheal abnormality

Croup

Tonsillar abscess (quinsy)

Epiglottitis
Asthma
Cystic Fibrosis
CFTR mutation on chromosome 7 (autosomal recessive)

Chest infections due to Pseudomonas aeruginosa or Diagnosis

Burkholderia cepacia and thick viscid mucus
• M: bronchodilators, antibiotics, steriods, nebulised
DNAse enzymes, physiotherapy
Malabsorption due to pancreatic failure
• Steatorrhoea, deficiency of fat-soluble vit A, D, E, K
• M: pancreatic enzyme capsules, vit supplements
Salt loss in sweat
• risk of salt-losing crisis
Liver disease
• sluggish bile flow and pseudo-obstruction of bowel
• M: pancreatic enzyme replacement, laxatives
Subfertility
• men have absence of vas deferens
• women can be subfertile but most achieve conception
• Heel prick test: high level of immunoreactive
tryspin levels
• Gene testing: GFTR gene mutation
• Sweat test: high Cl concentration
Prognosis
• >50% live to 40years
• Regular lung function tests measure
progression
• Some may require lung transplant
Congenital Heart Disease
Acyanotic (LR shunt) Cyanotic (RL shunt)
Ventricular septal defect (VSD) Tetralogy of Fallot
Atrial septal defect (ASD) Transposition of great vessels
Patent ductus arteriosus (PDA) Tricuspid atresia
Coarctation of the aorta
Aortic stenosis
Pulmonary stenosis
Acyanotic Congenital Heart Disease
Ventricular septal defect
A L R shunt at ventricular level
Small VSD
• Loud pansystolic murmur
• Often close spontaneously before age 5
Large VSD
• Presents with heart failure at 4-6 weeks
• Breathless and sweaty on feeding or crying
• May cause of faltering growth or
• Recurrent chest infections
Investigations
• ECG – right ventricular hypertrophy
• CXR – cardiomegaly, prominent pulmonary
artery and plethoric lung fields
• Echo – shows size of lesion and doppler flow
may indicate size of shunt
Treatment
• None if small
• Diuretics and ACEI for heart failure
• Repair if large defect with risk of pulmonary
hypertension
• No need for antibiotic prophylaxis once
repaired and “endothelialised”
• Some give prophylactic abx for risk of
endocarditis
Atrial septal defect
A L R shunt at atrial level
• May be asymptomatic
• Recurrent chest infections or heart failure
• Arrhythmias common in 30s/40s (SVT and AF)
• Flow across the defect itself does not create a
murmur (as low pressures in atria)
• Isolated ASD: low risk of endocarditis and
antibiotic prophylaxis not needed (NICE 2008)
Treatment
• Trans-catheter closure (double-umbrella
occlude) via femoral vein and IVC
• Open heart surgery with patch repair before
5th birthday
Patent ductus arteriosus
A L R shunt at ductal level
• Premature babies (kept open by hypoxia)
• Normally closes within a day or two of birth
• If persists, left to right shunt occurs as right
sided pressures fall with lung expansion
On examination
• Collapsing pulses: shunting leads to extra
blood flow through the lungs and hence extra
blood returning to the left of the heart
(volume overload)
• Extra blood ejected from LV causes high
systolic pulse pressure
• Rapid “run-off” through the ductus leads to
low diastolic pressure
• Auscultation: continuous “machinery” murmur
• Loudest below left clavicle and radiates to back
Treatment:
• Prostaglandin inhibitors to close duct
• Transcatheter occlusion
• Surgical ligation
 Cyanotic Congenital Heart Disease
Tetralogy of Fallot Transposition of Great Vessels
Pulmonary stenosis • Aorta comes off RV and pulmonary artery comes off LV
R ventricular hypertrophy • Only the PDA allows some oxygenated blood to reach systemic
Over-riding aorta circulation (duct dependent lesion)
VSD • Associated with diabetes in pregnancy
Ejection systolic murmur
On Examination:
On Examination: • Cyanotic from birth
• Clubbing and cyanosis
• Ejection systolic murmur Treatment:
• Flexed posture (increases blood flow across PDA to improve oxygenation) • Prostaglandin infusion to keep duct open
• Atrial septostomy to encourage further mixing
Treatment • Followed by definitive “switch” operation
• Blalock-Taussig shunt
Ask Doctor Clarke in association
(between with
R BMA Careers
subclavian and P artery)
• Followed by definitive correction
notic CHD • Beta-blockers: prevent infundibular spasms and reduce
t’s tetralogy cyanotic spells
www.doctortipster.com

pulmonary stenosis causing

right ventricular hypertrophy
over-riding aorta; R to L shunt across
VSD
ejection systolic murmur- pulmonary
 • It is reasonable to perform auscultation first while the child is quiet Pansystolic murmur: “burrr”
• “Babies don’t have a neck” so check for enlargement of liver instead of assessing the JVP
no gap between murmur and HS2
Auscultation: question stop ventricular systole diastole
lub dub

Heart Sounds Pansystolic murmur: “burr”

What causes the first and second heart sounds? Murmurs: above or below the nipple line?

• No gap between murmur and HS2 dub

Normal heart sounds
•Ask Doctor
Ventricular septal defect
Clarke in association with BMA Careers Radiates to neck
Radiates to back
Ask Doctor Clarke in association with BMA Careers

lub Ejection
• Mitral regurgitation
dub systolic murmur: “burr de”
PDA
machinery
Ejection systolic murmur: “burr de” Pansystolic murmur
• Tricuspid regurgitation Aortic stenosis
diastolemurmur
Pulmonary stenosis
Normal heart sounds: audible gap between
mumur and HS2
audible gap between
Ejection systolic above
mumur and HS2

• First = closing AV valves lub dub

• 2nd = closing aortic/pulmonary valves Ejection
lub systolic murmur:
dub “burr de” VSD (MR)

ventricular systole diastole • Audible gap between murmur© Dr R Clarke 2012-2013

and HS2 www.askdoctorclarke.com
Pansystolic below

Normal splitting of the second heart sound • Pulmonary stenosis

The Nipple Line
• Increase in the negative intra-thoracic
© Dr R Clarke 2012-2013 pressure
Ask Doctor Clarke in association with BMA Careers
with inspiration
www.askdoctorclarke.com
• Aortic6
stenosis
ventricular systole diastole
• Increases
Normal venous
splitting of the return
second heart fromsound the body into the right atrium
• During inspiration, there is an increase in the negative intra-thoracic pressure
• Increases volume
• This increases venousof blood
return to
from the body be
into ejected
the right atrium by the right ventricle Continuous (machinery)
ventricular systole murmur:
diastole “BurrrDurrr”
Continuous murmur: BurrrDurrr
Murmurs: above or below the nipple line?

• And therefore increasesAsk

• Causes• Causing
a slight a slightdelay
the Doctor
volumeClarke
delay in the in the
closure
in association
of blood
of theclosure
with BMA
to be ejected
pulmonary valve
Careers
by the right ventricle
of(P2)the pulmonary valve (P2) • Patent ductus arteriosus (PDA) lub dub

Normal splitting of the second heart sound

Murmurs: above or below the nipple line? Radiates to neck
Radiates to back
• During inspiration, there
Lub dubin the negative
is an increase Lub depressure
intra-thoracic
PDA
• This increases venous return from the body into the right atrium machinery
• And therefore increases the volume of blood to be ejected by the right ventricle murmur
Aortic stenosis Pulmonary stenosis
• Causing a slight delay in the closure of the pulmonary valve (P2) Radiates to neck
Radiates to back
Ejection systolic above
Lub dub Lub de PDA
machinery diastole
murmur VSD (MR)
Inspiration Expiration Aortic stenosis Pulmonary stenosis
Pansystolic below
Ejection systolic above
Wide fixed
Wide splitting ofsecond
fixed splitting of the theheartsecond
sound w ithheart sound
an atrial septal with an atrial
defect (ASD) © Dr R Clarke 2012-2013 www.askdoctorclarke.com

The Nipple Line

septal defect (ASD): “lub Lub
splat”
Inspiration splat Lub Expiration
splat Innocent murmurs (7 Ss):
• Wide = due to shunting VSD (MR)
• Short
• Fixed =Wide
nofixedvariation with inspiration due to a common atrium
splitting of the second heart sound w ith an atrial septal defect (ASD) Pansystolic below Continuous murmur: BurrrDurrr
• Soft
Lub splat Lub splat • Systoliclub dub
The Nipple Line • S1 & S2 normal
Inspiration Expiration
• Standing and sitting variation
Please note • Symptomless and
• You are not expected to diagnose wide fixed splitting of the second sound! Continuous murmur: BurrrDurrr
• It is a subtle sign and many paediatricians have never heard it • Special tests normal (ECG, CXR, Echo)
Inspiration
• This is why it is much harder to diagnose ASDs compared with Expiration
VSDs
dub diastole
Diarrhoea and Vomiting
• Identify key points in the history
• Identify key examination findings
• Formulate a differential diagnosis
• Describe initial investigation and management
options
• Refer to a national guideline (where applicable) Red Flags
• Seek help as appropriate
Cows Milk Protein Allergy Complications
Allergy to casein and whey proteins in cows milk • Malabsorption  chronic
iron deficiency anaemia
• IgE mediated = acute, rapid onset usually within 20–30 minutes and faltering growth
of ingestion (up to 2 hours), histamine from mast cells • Anaphylactic shock (rare)
• Heiner's syndrome = a
• Non-IgE-mediated = delayed, non-acute, manifest up to 48 milk-induced pulmonary
hours or even 1 week after ingestion, T cells disease (rare)
• Mixed IgE and non-IgE = involve a mixture of both IgE and non-
IgE responses
Diagnosis

Risk Factors
• history of atopy = asthma, eczema
• family history of atopy
• exclusive formula feeding in first 4-6months
Nocturnal Enuresis
Night-time urinary incontinence (bed wetting)
Primary = child has never been continent for a prolonged period Events:
• Idiopathic/iatrogenic, delayed maturation of the urethral sphincter • UTI: Urinary frequency, dysuria, haematuria, urinary retention, urgency
• Congenital/genetic: congenital anomalies • Chemical urethritis: Bubble bath, perfumed soaps
• Does she need to strain to urinate? Any dribbling?
Secondary = incontinence occurs after a 6-12 months period of continence • Stress incontinence? Continuous dampness?
• Infection: UTI • Polydipsia?
• Traumatic: chemical distal urethritis (bubble bath) • Gait disturbance? Change in behaviour?
• Metabolic: diabetes • Any encopresis? Constipation?
• Idiopathic/Iatrogenic: polydipsia, faecal impaction, substance abuse, and • What do you do when she wets the bed? Is she punished? Have you tried
psychiatric: psychological stress any reward systems?
• Frequency: how often does it occur (times per night and week)
Important Questions in the History: •
• Onset: When did it begin? Has the child ever been continent? PMH:
• Character: bedwetting, any incontinence during the daytime • Diabetes
• Location: home? sleepovers? • Spina befida
• Frequency: times per night and week, is it getting better, worse or • Focal impaction
staying the same? Does it interfere with any of her activities? • Genitourinary malformations
• Palliation: is there anything that makes it better? If so, what? •
• Behaviour modification, such as emptying the bladder before sleep? • Meds: imipramine, desmopressin (DDAVP)
• Limiting fluid intake before bed?
• SH/ psychological stressful situation in the life
• Provocative: Is there anything that makes it worse? If so, what? • FH/ bedwetting
• Drinking before bed? Caffeine? Soft drinks?
• Use of bubble bath or perfumed soaps? •
• Constipation? •
Meningeal Signs
Classic triad
• Fever
Brudzinski
• Neck stiffness
• Supine position • Mental status change
• Neck flexed
Neonatal organisms:
• Lower extremities flexed
• Listeria monocytogenes
• E coli
• Grp B Strep
Kernig
Paediatric organisms:
• Hip flexed and knee flexed
• S pneumoniae
• cannot extend knee past 135˚ • N meningitidis
• H influenzae type B
Seizure
History
Examination
Causes of status epilepticus
• Febrile convulsions
• Known epilepsy + acute illness
• Meningoencephalitis
• Metabolic / electrolyte abnormality
• Drugs / intoxication / poisoning
• Intracranial haemorrhage
• Trauma
Investigation:
Management:
• Onset: ABCDE, give O2, check glucose
• 5 min: buccal midazolam or rectal diazepam
• 15 min: IV lorazepam, senior help
• 25 min: phenytoin infusion over 20 min
• 45 min: rapid sequence induction of anaesthesia
Oh My Lord Phone the Anaesthetist
A child presenting with tonic-clonic convulsion
lasting more than 5 minutes should be regarded as
status epilepticus
Café au Lait Spots
Often harmless but > 5 spots may be associated with syndromes

Neurofibromatosis type 1 McCune–Albright syndrome

NF1 mutation (autosomal dominant) GNAS somatic mutation (not inherited)
• café au lait spots • fibrous dysplasia  limping, pain, fracture
• benign tumours (neurofibromas) in or • precocious puberty
under the skin • excess GH
• iris Lisch nodules
• cushing’s syndrome
• freckle clusters under armpits or groin • hyperthyroidism
• optic pathway glioma • renal phosphate wasting (increased hormone
• renal artery stenosis (high BP) FGF23 production  renal tubulopathy)
• migraines
Neurofibromatosis
Tumour growth in the nervous system

Type 1 Type 2
NF1 mutation (autosomal dominant) NF2 mutation (autosomal dominant)
• café au lait spots, neurofibromas and iris Lisch • hearing loss, tinitus and balance problems
nodules • facial numbness
• optic pathway glioma • tongue weakness --> dysphagia, dysphonia
• renal artery stenosis (high BP) • cataracts
• migraines
Diagnosis:
Diagnosis: • MRI and/or CT scan
• MRI and/or CT scan • PET scan
• PET scan • genetic testing to confirm NF1 mutation
• genetic testing to confirm NF1 mutation
Management:
Management: • Regular monitoring and treating any problems as
• Regular monitoring and treating any problems as they occur
they occur
Duchenne Muscular Dystrophy
Progressive weakness and wasting of muscles

• X linked recessive at Xp21

• Caused by an absence of dystrophin (a muscle

that helps keep muscle cells intact)

Diagnosis
History
• Motor milestone delay
• motor development delay
• Unusual gait
• clumsiness
• Speech delay
• frequent falls
• CK ASAP
• difficulty climbing stairs, running, riding
• Leads to
• Gower’s sign
• Early diagnosis DMD
Cerebral Palsy
x

• x

History
• X

Physical Examination:
• Arms normal Diagnosis
• Leg hypertonia • M
• Legs scissor when picked up
Development
Gross Motor Fine Motor and Vision Hearing and Speech Social Behaviour
• sym movement • fixes on face • cries • responds to being
Newborn • head lag • follows face picked up
Supine infant • good head control • stares at and follows • coos • smiles
(6 week) • sits supported face • startled to loud noise

4 months • lifts head in prone • shakes rattle • laughs

• sits unsupported • reaches out to toys • 2-3 words • puts objects in mouth
Sitting infant • weight bears on legs • palmar grasp • responds to name • hand and foot regard
(8-9 month) • pulls up to standing • transfers objects • distraction test (turns • plays peekaboo
• rolls between hands to sound) • stranger anxiety
• walking • pincer grip • 3 or more words • uses spoon
Mobile toddler
• climbs stairs 2 feet • builds 3 brick tower • points to body parts • takes off socks/shoes
(18-24 month) • understands simple ins • some toilet awareness
• runs and jumps • builds 8 brick tower • short sentences • toilet trained (day)
Communicating child • throws/kicks ball • copies line and circle • plays with others
(3-4 year) • rides a tricycle
• climbs stairs 1 foot
• catches ball • draws ”accurate” man • comprehensive speech • plays games
School-age
• heel-toe walking • fixed handedness • learning to read
(5 year) • can tell the time
 Development Red Flags
General Gross Motor
Loss of a previously Stiff limbs or asymmetry
attained skill: of posture at any age
developmental
regression
Dysmorphic or syndromic Unable to hold head in
physical appearance midline and turn to look
left or right by 6 months
Concern expressed by Unable to sit at 9 months
parent, carer, or teacher.
No walking at 18 months
Persistently walks on
tiptoe and is unable to get
feet flat on the floor
Fine Motor and Vision
Not reaching for objects at
6 months
Keeps hands in fists at 6
months
Hand preference before
12 months
No pincer grip by 12
months
Not scribbling with crayon
by 2 years
Persistent squint past 6
months
Hearing and Speech Social Behaviour
Does not react to noise or Not smiling by 3 months
voice
Stops making vocal noises Does not respond with
(babbling and speech) warmth/settling to parent
or well known carer
< 6 words by 18 months Little/no eye contact by 4
months
< 20 words at 2 years Not pointing to show
shared interest by 18
months
No symbolic play by 2
years (for example
pretending to “brush” a
doll’s hair)
 Disordered Development
Prenatal
Genetics: Down’s syndrome
Fragile X syndrome
Di George Syndrome
Duchenne Muscular Dystrophy
Toxins: Alcohol (foetal alcohol syn)
Smoking
Drugs of abuse (heroin)
Medication (sodium valporate)
Maternal illness: Renal failure
Diabetes mellitus
Congenital abnormality:
Spina bifida
Hypoxia: Prenatal stroke
Placental abnormality
Perinatal Postnatal
Metabolic: Phenylketonuria (PKU)
Medium-chain acyl-CoA Dehydrogenase
Prematurity
deficiency (MCADD)
Congenital infections: Rubella
Infections: Meningitis
Cytomegalovirus (CMV)
Recurrent ear infections
Syphilis
Severe persistent ‘glue ear’
HIV
Environment: Neglect
Infections at birth: herpes simplex Child abuse
Group B Streptococcus Lack of social stimulation
Poor nutrition
Perinatal hypoxia: Placental abruption
Trauma: Brain injury
Cord compression
Endocrine: Congenital hypothyroidism
 History
Fever • Duration and pattern
• Pain: throat, ear, dysuria
Temperature ≥ 38˚C • A/W: malaise, anorexia, vomiting, rash
• Vaccinations
• Fluid intake

Investigations
• Examine: chest, throat, ears, CNS, urine
• FBC: leucocytes, neutrophils
• Throat swab: Strep

Management
• Cooling and paracetamol

Red Flags
A: stridor
B: grunting, tachypnoea(> 60), chest recession
C: pale/mottled/blue, reduced skin turgor
D: unresponsive, hard to arouse, non-
blanching rash, neck stiffness, seizure
E: high-pitched/continuous cry, fever in
<3month
 History
Febrile Convulsions • Duration and pattern
• Pain: throat, ear, dysuria
A seizure which occurs with fever
• A/W: malaise, anorexia, vomiting, rash
• Vaccinations
• Commonest seizure disorder of childhood (1:20 before 5yr)
• Fluid intake
• Typically ages 6 months to 6 years
• Risk of recurrent febrile seizures is 30%
Investigations
• Examine: chest, throat, ears, CNS, urine
• Occur with common illnesses e.g. ear infections, coughs,
• FBC: leucocytes, neutrophils
colds, herpes HHV-6 (roseola infantum)
• Throat swab: Strep
• Developmental assessment
• Can sometimes be from serious illnesses, inc meningitis
(petechial rash, Kernigs sign, bulging fontanelle) or
Management
encephalitis (focal neuro defects, focal seizure, LOC)
• ABCDE
• Cooling and paracetamol ± antibiotics
Presentation
• Hot and flushes Red Flags
• Eyes roll backwards Colour: pale/mottled/ashen/blue
• Generalised – twitching/shaking Activity: no response to social cues / hard to arouse / weak, high-
pitched or continuous cry
• Short duration – few seconds up to 5 minutes
Resp: grunting / tachypnoea > 60 breaths / chest recession
• Sleepy or confused afterwards
Other: non-blanching rash / bulging fontanelle / neck stiffness /
focal seizures
Rash
• Identify key points in the history
• Identify key examination findings
• Formulate a differential diagnosis
• Describe initial investigation and management
options
• Refer to a national guideline (where applicable) Red Flags
• Seek help as appropriate
Allergic Reaction
• Identify key points in the history
• Identify key examination findings
• Formulate a differential diagnosis
• Describe initial investigation and management
options
• Refer to a national guideline (where applicable) Red Flags
• Seek help as appropriate
 Rashes
Vesicular
• chickenpox: prodrome malaise, fever, headache, rhinitis followed
by crops of papulovesicles
• eczema herpeticum: exacerbation of eczema
• hand foot and mouth:
Haemorrhagic
Lesions do not blanch on pressure due to extravasated blood
Petechiae (smallest), purpura, and ecchymoses (largest)
• meningococcal septicaemia: petechial or purpuric rash
• acute leukaemia: pallor and hepatosplenomegaly
• idiopathic thrombocytopenic purpura: otherwise well, may have
nosebleeds
• henoch-schonlein purpura: legs and buttocks, arthralgia
• bleeding disorders: easy and long bruising with trivial trauma
Urticarial (hives)
Transient, itchy rash with raised weals
• food allergy: shellfish, eggs, cows milk
• drug allergy: penicillin
• infection: usually viral
• contact allergy: plants, grasses, animals
Erythema multiforme
symmetrical rash with annular target (iris) lesions
• causes: HPV, mycoplasma, EBV and drugs
• Stevens-Johnson syn: severe form with mucous
membrane involvement
Erythema nodosum
A delayed hypersensitivity reaction
red, tender, nodular lesions usually on shins
• infections: strep and TB
• drugs: sulfonamides, penicillins, phenytoin
• systemic: sarcoidosis, lymphoma, lupus, IBD
Usually self-limiting, May required NSAIDS, potassium iodide
Maculopapular Rashes
Small and medium vessel vasculitis
Kawasaki disease
Measles (Mobillivirus)
• Rash: starts on face. Non-pruritic • Fever, rash, red lips, conjunctivitis
• 3 Cs: cough, coryza (runny nose), conjunctivitis (Koplik spots)
• Complications: encephalitis, subacute sclerosing Scarlet fever (grpA strep)
panencephalitis
• Fever, sore throat, strawberry tongue

Rubella (Rubivirus)
• Rash: starts on face. Pruritic Slapped cheek syndrome (Parvovirus B19)
• Complications: congenital rubella syndrome (esp first 4 months • Rash: hot cheeks. Not pruritic
pregnancy)
• Fever, headache, arthralgia
• Complications: febrile seizures, aplastic crisis, foetal
Roseola infantum (HHV6 and HHV7): hydrops/loss in pregnancy
• Affects < 5 yr
• Rash: starts on neck. Non-pruritic Enteroviral:
• High fever, cough, erythematous pharynx, tonsils and TMs • Mild fever, generalised rash
• Complications: febrile seziures • Rash: starts on face. Non-pruritic
• Complications: encephalitis, subacute sclerosing
panencephalitis
Kawasaki Disease
Small and medium vessel vasculitis

AKA mucocutaneous lymph node syndrome

Diagnosis needs:
• Warm - fever > 5 days
Plus 4 of 5:
• Conjunctivitis – bilateral Complications:
• Rash – erythematous, maculopapular • Coronary artery aneurysm
• Erythema – palm/sole swelling • Myocarditis
• Adenopathy, cervical – 1 unilateral node
Treatment:
• Mucous membrane – dry, red, strawberry • High dose aspirin
tongue
• IV immunoglobulin (IVIg)
Hand, Foot and Mouth Syndrome
Viral illness caused by the Coxsackie virus

Affects primary school children (1-10 years)

Presentation:
• sore throat, fever, loss of appetite
• mouth ulcers, blistering rash on hands and
feet

Treatment:
• Self-limiting 7-10days
• Paracetamol and ibuprofen
Attention Deficit Hyperactivity Disorder
Characterised by:
• extreme restlessness
• poor concentration
• uncontrolled activity
• impulsiveness

Management:
• Specialist assessment
• Balanced diet avoiding artificial colourings
• Methylphenidate (Ritalin) - side-effects include abdominal
pain, nausea, dyspepsia. Growth is not usually affected but it
is advised to monitor growth during treatment every 6
months. The BNF also advises monitoring for psychiatric
disorders and checking blood pressure/pulse every 6 months
• Atomoxetine
Neonatology
Term – delivery after 37 weeks Extremely preterm – before 28 weeks Low birthweight – born < 2kg
Preterm – born before 37 weeks Neonate – < 28 days V low birthweight – born < 1.5kg

Understand the adaption to extra-uterine life of a newborn, in particular the cardio-respiratory changes and
recognise when a baby may require support with this (i.e. newborn resuscitation)

Describe how to initiate feeding in a newborn baby and follow national breast-feeding guidelines

Appreciate the impact of maternal health and behaviour on the health of the fetus

Understand the risk factors and preventative measures for Sudden Unexplained Infant Death Syndrome
Neonatology – Problems of the Term Baby
Term – delivery after 37 weeks Extremely preterm – before 28 weeks Low birthweight – born < 2kg
Preterm – born before 37 weeks Neonate – < 28 days V low birthweight – born < 1.5kg

Outline the clinical presentation, causes, investigation and management of problems of the term baby
including:
• hypoxic ischaemic encephalopathy
• breathing difficulty (including meconium aspiration syndrome)
• sepsis
• jaundice (including prolonged jaundice)
• hypoglycaemia
• weight loss
• feeding difficulties
Jaundice
Yellowing of the skin/sclera due to bilirubin in the skin and mucous membranes

Haemolysis Management
• immune – rhesus or ABO • Phototherapy
incompatibility
< 1 day
• RBC defects – G6PD, pyruvate kinase • Exchange transfusion
deficiency, hereditary spherocytosis • IV Ig = adjunct to phototherapy in rhesus or ABO
Congenital infection haemolytic disease.
Physiological jaundice
1 day to Breast milk jaundice
2 weeks Infection – UTI
Haemolysis, bruising, polycythaemia
Complications
Unconjugated • Kernicterus = brain damage due to deposition of
• Breast milk jaundice bilirubin in the basal ganglia
Persistent • Hypothyroidism • Hypoglycaemia =
> 2 weeks Conjugated
• Biliary atresia • Weight loss =
• Neonatal hepatitis • Feeding difficulty =
Neonatology – Problems of the Preterm Baby
Term – delivery after 37 weeks Extremely preterm – before 28 weeks Low birthweight – born < 2kg
Preterm – born before 37 weeks Neonate – < 28 days V low birthweight – born < 1.5kg

Describe some of the problems experienced by preterm babies

• Hypothermia
• Feeding difficulties
• Sepsis
• Respiratory distress syndrome
• Necrotising enterocolitis
• Periventricular haemorrhage
• Retinopathy of prematurity and longer-term neurodisability) the underlying pathophysiology and initial
management

Appreciate the role of developmental care in the neonatal unit for preterm babies
NIPE Examination
Congenital cataracts
• ophthalmoscope examination
Congenital heart disease
• examination of the cardiovascular system
Undescended testes
• palpation of the scrotum and inguinal canals
Developmental dysplasia of the hip
• Barlow test = backward pressure to test for
dislocate-ability
• Ortolani test = relocation of a dislocated hip
Blood Spot Screening
‘Heel prick’ test done on day 5

Congenital disorders:
• Congenital hypothyroidism (CHT) = a thyroid hormone deficiency which leads to severe and irreversible
developmental delay if hormone replacement is not started by the time the baby is 21 days old
• Sickle cell disease = haemoglobin disorder leading to painful “sickling crises,” strokes, and life threatening infections
• Cystic fibrosis = CFTR chloride channel disorder which leads to chest and gastrointestinal problems. Early treatment
with antibiotics and physiotherapy can delay the onset of severe and irreversible lung damage, increasing life
expectancy

Metabolic diseases:
• Phenylketonuria (PKU) = leads to severe and irreversible developmental delay
• Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) = problem breaking down medium chain fats for
energy, leading to a build up of toxins and hypoglycaemia
• Maple syrup urine disease = autosomal recessive problem breaking down leucine, isoleucine and valine amino acids
• Isovaleric acidaemia = autosomal recessive problem breaking down leucine
• Glutaric aciduria type 1 (GA1) = problem breaking down lysine and tryptophan amino acids
• Homocystinuria (HCU) = autosomal recessive preventing the breakdown of homocysteine
Down syndrome
Trisomy 21
Genetic basis
• Chromosome non-disjunction (95%) Assessment
• Robertsonian translocation (4%) • 10-14wk combined test = nuchal translucency,
• Mosaic (1%) = combination of normal and trisomic serum bHCG, serum protein A
cells • 15-20wk
• triple test = bHCG, unconjugated oestriol, alpha
History/clinical presentation fetoprotein
• Head: brachycephaly, flat occiput • quadruple test = bHCG, unconjugated oestriol,
• Eyes: down-slating, epicanthal folds, Brushfield spots alpha fetoprotein, inhibin A
• Nose: short, low nasal bridge, small nares
• Ears: small, low-set
• Mouth: protruding tongue
Management
• Hands: single palmar transverse crease
• Educational and developmental support
• Congenital heart disease
• Gross motor and language delay
• Chronic ear infections
Turner syndrome
45 XO sex chromosome disorder

History/clinical presentation Assessment

Dysmorphic features
• Lymphedema hands/feet at birth
• Neck webbing
• Wide carrying angle (cubitus valgus)
• Short stature
Structural and functional abnormalities
• Gonadal dysgenesis / delayed puberty
• Congenital heart disease (coarctation)
Hallmarks = short stature and primary
amenorrhoea
• Prenatal ultrasound
• Peripheral blood karyotype
• Barr bodies = 0 (1 less than number of X)
Management
• GH – to improve final height
• Oestrogen – at 11years to aid secondary sexual
characteristics
• Progestogen – near end of puberty to aid
menstruation and uterine health
• IVF – most patients are infertile
Patau syndrome
Trisomy 13
Features
Assessment
Eyes:
• 10-14wk combined test = nuchal
• Microphthalmia = abnormally small eyes translucency, serum bHCG, serum
• Anophthalmia = absence of 1 or both protein A
eyes
• If high risk  or chorionic villus
• Hypotelorism = reduced distance
between the eyes sampling (11-13wk) or
Head: amniocentesis (from 15wk)
• Holoprosencephaly = brain fails to • 18-21wk anomaly US scan
divide into L and R hemispheres
• Cleft lip and palate Management
• Cutis aplasia = missing skin on scalp • Most cases will miscarry, stillbirth
• Microcephaly or die shorty after birth
• Ear malformations and deafness • Parent genetic testing and
Other: counselling
• Midline defects
• Polydactyl
• Heart defects (VSD, PDA, ASD)
Edwards syndrome
Trisomy 18
Genetic basis
• Trisomy 18
• Partial = a section (not all) of extra 18
present in cells
• Mosaic = not all cells have 3 copies
History/clinical presentation
• Those surviving >1yr have severe disabilities
• Head: microcephaly, micrognathia
• Mouth: cleft lip, cleft palate
• Hands: overlapping fingers, clenched fists
• Abdo: exomphalos, hernias,
• Feet: rockerbottom feet
Assessment
• 10-14wk combined test =
nuchal translucency, serum
bHCG, serum protein A
• If high risk  or chorionic
villus sampling (11-13wk) or
amniocentesis (from 15wk)
• 18-21wk anomaly US scan
Management
• Most cases will miscarry,
stillbirth or die shorty after
birth
• Parent genetic testing and
counselling
Sickle Cell Disease
x

• Commonest monogenetic condition in world Management

• Single nucleotide substitution GTG for GAG • Hydration
• 2 homozygous genes for defective red blood cells with a • Oxygenation
tendency to sickle • Pain relief
• Sickled cells cause vaso-occlusion and result in a variety of • Antibiotics if required
sickle crises • Consider exchange transfusion
• Increased infection risk due to auto-infarcted spleen

Crises
• Painful – vaso-occlusion results in ischaemia and pain
• Chest – vaso-occlusion and collapse in the lungs
• Aplastic – temporary bone marrow failure, parvo b19
• Splenic sequestration – sudden splenic enlargement
• Cerebrovascular – vaso-occlusion in cerebral circulation
• Priapism – usually nocturnal, risk of long term impotence
Paediatric Surgical Problems - Common
Cryptorchidism
Inguinal and umbilical hernias True – testis absent from scrotum but lies along line of descent
• X Ectopic – testis found away from normal path of descent
Retractile – testis intermittently in scrotum but moves out

Hydrocele collection of fluid around the testicle in the scrotum Bilateral  refer to senior as may be congenital adrenal hyperplasia
• X (CAH)  risk of salt-losing crisis
Birth  review at 6-8 weeks
6-8weeks  if unilateral, review at 3 months
Posterior urethral valves 3 months  orchidopexy and fixation
obstructing membrane in the posterior male urethra as a result of
abnormal in utero development. Physiological phimosis inability to retract the foreskin
Children are born with tight foreskin and separation occurs naturally
Hypospadias opening of the urethra is on the underside of the over time. Phimosis is normal for the uncircumcised infant and usually
penis resolves around 5-7 years.
x Treatments: gentle daily manual retraction, topical corticosteroids or
circumcision

Balanitis inflammation of the glans penis ± foreskin

Symptoms: a sore, itchy and smelly penis, redness, swelling, build-up
of thick fluid, dysuria
Paediatric Surgical Problems - Emergency
Pyloric stenosis gastric outlet obstruction due to hypertrophy Acute scrotum
of pyloric muscle x
Symptoms: non-bilious projectile vomiting, reduced stools,
dehydration
Examination: pyloric mass RUQ, visible peristalsis, distension Acute surgical abdomen
Imaging: USS (wall >4mm, length >17mm, diameter >15mm) x
Treatment: correct electrolyte imbalance (hypochloremic
hypokalaemic alkalosis), Ramstedt’s pyloromyotomy
Malrotation bowel does not coil up in the correct position
during development
Intussusception bowel ‘telescopes’ in on itself Symptoms: bilious vomiting
Symptoms: colicky pain, vomiting, dehydration, fever, distension, Investigations: doppler USS of mesenteric vessels, contrast
bloody stool swallow, ± volvulus
Examination: palpable mass, pale Treatment: surgical division of peritoneal bands
Imaging: USS (target sign), abdo xray
Treatment: fluid resus, antibiotics, air enema or laparoscopic Volvulus bowel twists so the blood supply to that part of the
surgery bowel is cut off.
Complication: venous obstruction within mesentery  necrosis, Symptoms:
perforation, peritonitis Investigations:
Treatment:
Neonatal Surgical Problems
Spina bifida Congenital diaphragmatic hernia
x x

Anorectal malformations
x
Necrotising Enterocolitis
Impaired blood flow to the bowel mucosa

Serious complication due to impaired blood flow to the

bowel. Mucosal ischaemia allows gut microorganisms to
penetrate the bowel wall causing a severe haemorrhagic
colitis.

Breast milk is protective Diagnosis:

• Abdo Xray = gas in bowel wall or portal veins
Risk Factors:
• increasing milk feeds too rapidly Treatment:
• patent ductus arteriosus (PDA) • Stop feeds
• Antibiotics
Presentation: • Laparotomy = if perforation occurs
• acute collapse
• abdominal distension Complications:
• bile-stained vomit • Intestinal stricture
• bloody diarrhoea • Short bowel syndrome
Oesophageal Atresia
Oesophageal passage not formed

Often associated with other abnormalities:

• Vertebral abnormalities
• Anal atresia
• Cardiac abnormalities
• Tracheo-oesophageal fistula
Complications:
• Renal
• x
• Limb

Treatment:
Presentation:
• Prenatal: polyhydramnios, absent stomach • Wide-bore NG tube to determine patency
bubble • Surgical correction
• From birth: frothing from mouth, choking,
cyanosis
Duodenal Atresia
Duodenum is not formed, preventing passage to intestines

Symptoms:
• Vomiting
• non-bilious if proximal to major duodenal papilla
• bilious if defect is distal to papilla
• Upper abdominal distension
• Feeding intolerance Diagnosis:
• Delayed meconium passage • Antenatal = USS
• X-ray = double bubble sign (2 fluid-filled areas)
Risk Factors:
• Down syndrome
• Vertebral abnormalities Treatment:
• Anal atresia • Stop feeds
• Cardiac abnormalities • Surgery = duodenoduodenostomy
• Tracheo-oesophageal fistula
• Renal Complications:
• Limb • Polyhydramnios
• Prematurity
Biliary Atresia
Blockage/malformation of the biliary ducts

Symptoms:
• Neonatal jaundice
• Dark urine
• Pale stools
• Weight loss Diagnosis:
• Irritability • Abdo USS
• Liver biopsy
Risk Factors: • ERCP
• Asian / AFC
• Female Treatment:
• Surgery = Kasai procedure

Complications:
• x
 Gastroschisis
Neonate’s intestines are found outside the abdomen

The intestines develop inside the umbilical cord and

then move inside the abdomen after a few weeks. Complications:
If abdominal wall does not fully develop, some of the • Damage requiring resection may result
baby’s intestine escapes in short bowel syndrome
The exposed intestine can be damaged by amniotic • Hernias may occurs due to the weak
fluid in the womb and then air when born. It may abdominal wall
also twist as it floats in the amniotic fluid, which can
cut off the blood supply.
Risk Factors: Treatment:
• Maternal illness or infection before or during • Wrap intestines in “cling film” to reduce
pregnancy fluid and heat loss
• Maternal drug, cigarette or alcohol dependency • Surgical correction (if large may need
multiple attempts)
• Mothers < 20 years
 Exomphalos
Bowel hernia through the umbilicus, covered with a membrane

The intestines develop inside the umbilical cord and

then move inside the abdomen after a few weeks. Complications:
The intestines and other abdominal contents • x
remain inside umbilical cord but outside abdomen.

Treatment:
Minor = < 4cm and only contains intestine
• x
Major = > 4cm and/or contains the liver
Neonatal Upper Airway Disorders
Cleft Lip x Choanal Atresia bony obstruction between nasal cavity and nasopharynx
Symptoms: x Symptoms: nose breathing,
Examination: x Examination: x
Imaging: antenatal USS Imaging: x
Investigation: xs) Investigation: xs)
Treatment: x Treatment: oral and tracheal airway insertion followed by surgical correction
Complication: x Complication: respiratory distress, cyanosis

Cleft Palate incomplete or improper formation of the roof of the mouth Pierre Robin sequence micrognathia, posteriorly displaced tongue
Symptoms: x (glossoptosis), cleft palate
Examination: x Examination: x
Imaging: antenatal USS Imaging: x
Investigation: xs) Investigation: xs)
Treatment: x Treatment: x
Complication: It may affect hearing, breathing, speech, and the formation of the nose Complication: respiratory obstruction, hypoxia, cor pulmonale
and teeth. It may be genetic, caused by environmental factors, or part of another
condition.
 Cleft Palate
x

x
Complications:
• x

Treatment:
• x
 Congenital Diaphragmatic Hernia
x

x
Complications:
• x

Treatment:
• x
 Spina Bifida
x

x
Complications:
• x

Treatment:
• x
 Anorectal Malformation
x

x
Complications:
• x

Treatment:
• x
 Hirschsprung’s disease
absence of myenteric plexus in bowel segment

• Symptoms: neonatal obstruction, poor feeding,

bilious vomiting
• Examination: narrow rectum, decompression of
DRE
Complications:
• Imaging: abdo xray (dilatation), anal monometry
(absence of sphincter relaxation) • severe, life-threatening enterocolitis
• Investigation: suction rectal biopsy (absent
ganglion cells/hypertrophic nerve trunks) Treatment:
• temp colostomy
• “pull through” surgery at 6month