Paediatrics revisional

summaries

INDEX:

Cardiovascular...................................................................2

Respiratory........................................................................4

Gastrointestinal and surgery.............................................11

Endocrine..........................................................................17

Haematology....................................................................20

Renal................................................................................27

Musculoskeletal................................................................31

Neurology.........................................................................35

Infections..........................................................................40

Genetics............................................................................42

1
 Congenital Heart Disease (CHD)
Acyanotic CHD: (All cause Left -> Right shunts)
VSD: Pansystolic murmur at the Left Lower Sternal Border (LLSE)

Small VSD: Large VSD:

o Closes spontaneously before o Needs surgical closure
5 years of age o Causes volume overload &
HF leading to RVH
o Infants often present with
dyspnoea while feeding
ASD: No murmur
o Causes HF and chest infections.
o Closed surgically with transcatheter occlusion
PDA: Continuous MACHINERY murmur loudest below left clavicle and
radiating to the back + collapsing pulse
o Associated with prematurity and hypoxia
o Tx: PG-Inhibitors: IV Ibuprofen (superior to IV Indomethacin)
o If persistent at term: transcatheter occlusion or surgical ligation.
Cyanotic CHD: The 5 T s
1. Truncus arteriosus: Needs surgical closure
2. Transposition of great arteries:
I. A duct-dependent lesion (only survives with a concurrent PDA)
II. Tx: PG infusions to keep PDA open then the switch operation
3. Tricuspid atresia
4. Tetralogy of Fallot:
I. Components: PROVE
I. Pulmonary stenosis
II. RVH
III. Overriding aorta
IV. VSD
V. Ejection systolic murmur radiating to the back
II. The net result of (PROV) is a blocked right ventricular outflow
III. The infant naturally adapts a squatting position (Tet position) to
block the femorals and increase the blood flow to the lungs
IV. Tx: Blalock-Taussig shunt operation
5. Total Anomalous Pulmonary Venous Return (TAPVN)
Infective endocarditis can complicate any CHD, and the commonest
causative pathogen Is Strep viridans.
o Tx: IV Benzylpenicillin + IV Gentamicin for 6 week

2
 Other cardiac conditions

Co-arctation of the aorta:

o Signs:
Systolic murmur radiating to the back
Blood pressure Arm > Legs
Radio-femoral pulse delay
o Presents with shock when the ductus arteriosus closes (if the co-
arctation is very mild, may present later in life with HF)
o Associated with Turner s Syndrome (45XO)
o Tx: Bypass graft
Eisenmenger syndrome:
o An acquired cyanotic heart disease
o Occurs when a heart condition causing a L -> R shunt (acyanotic
conditions) progresses to cause irreversible pulmonary
hypertension which reverses the shunt to become R -> L
o Tx: Heart-lung transplantation
Innocent murmurs:
o Characteristics: 7 S s
Soft, Short, Systolic, S1&S2 normal, Symptomless, Standing
and sitting variation, Special tests normal (ECG)
o Sometimes associated with fever and can sound harsh
Wolf-Parkinson-White Syndrome (WPW):
o A type of SVT caused by an accessory electrical pathway in the
heart causing a re-entry tachycardia
o ECG findings:
Tachycardia 250-300 bpm
Polymorphic narrow QRS
Long QT
Short P-R intervals
o Tx: Management of the acute SVT, then on the long term ->
Percutaneous radiofrequent ablation of the accessory pathway
Step-wise management of an acute SVT:
o Vagal stimulation: Cold water immersion > carotid massage >
Valsalva manoeuvre.
o Establish an IV access and give adenosine (increasing dose /2min)
o If non-responsive consider: Amiodarone/ Procainamide/ DC shock
o After treatment of an acute episode, establish and treat the
underlying cause (e.g. WPW) and place on a long-term beta-
blocker: sotalol (verapamil if asthmatic)

3
 Respiratory Stridor

Infectious stridor Croup Epiglottitis

Causes Viruses: Parainfluenza; Bacteria: Haemophilus
influenza; RSV; influenza type B (HiB)
Rhinovirus

Age 6 months 6 years 1 6 years

Onset Days Hours (very rapid)

Examination T < 38.5 C T > 38.5 C

Barking cough Sitting upright, drooling
Hoarse voice & TOXIC LOOKING
Able to drink and speak Unable to drink or
speak

Emergency? No (except if very Yes (life-threatening)

severe)

Management Oral steroids MEDICAL EMERGENCY:

(prednisolone/ 1. Avoid
dexamethasone) OR examination
Nebulized budesonide 2. Call
anaesthesia/ENT
If severe (Westly score 3. Intubation
3): 4. ICU transfer
Nebulized epinephrine 5. Bloods testing
with oxygen 6. IV Cefuroxime

Other differential diagnoses for stridor:

Bacterial tracheitis (very similar to epiglottitis but caused by S. aureus)
Diphtheria (tonsillar pseudomembrane)
Inhaled foreign body/ inhaled smoke
Anaphylaxis
Trauma
Hypocalcaemia
Chronic stridor: subglottic stenosis, laryngomalacia, psychological

4
 Bronchiolitis

90% of cases occur in 1-9 months old children

Causes: mostly RSV, but also influenza, parainfluenza, adenovirus

Presentation varies with age but classically:

o Coryzal illness with dry cough
o Expiratory wheeze
o Feeding difficulties
On examination:
o Late inspiratory crackles
o Hyperinflated chest & displaced liver
o Signs of respiratory distress
Grunting
Tachypnoea
Nasal flaring
Use of accessory muscles
Subcostal & intercostal recession
If severe distress: cyanosis and decreased consciousness

Admission criteria:
o Apnoea
o Severe respiratory distress
o Oxygen saturation <90%
o Oral intake <50% usual
o High-risk groups: CF, CHD, asthmatics, preterm

Management:
o Supportive measures (recovery within 2 weeks)
Fluids, NG tube if poor feeding
CPAP if low O2 saturation
o NO EVIDENCE for the effectiveness of steroids or bronchodilators

Prevention:
o Palivizumab (monoclonal antibody) monthly injections to high-risk
groups

5
 Asthma

A chronic illness affecting 1 in 11 children characterized by a reversible

airway obstruction, manifesting as wheeze
Non-asthmatic wheeze patterns: no INTERVAL symptoms
o Viral episodic wheeze: Preschool children + viral infection
o Multiple triggers wheeze: Preschool children + multiple triggers
(cold, dust, animals, exercise)
Key features of asthma:
o Characteristic symptoms of cough, dyspnoea, and wheeze
o Symptoms are worse at night
o Interval symptoms between acute exacerbations
o Personal and family history of atopy: eczema, hay-fever, allergies
o Examination signs: hyperinflated chest and Harrison sulci
Diagnosis:
o In very young children: history and examination are diagnostic
o Skin prick testing to identify allergens
o Spirometry for children >5 years old (superior to PEFR)
FEV1 improvement of >12% following the use of
bronchodilators (used for diagnosis and severity)
Can t be used for children younger than 1 year old due to
the absence of the B2-adrenoreceptors mechanism
Management:
o Avoid triggers
o Use of:
Relievers: Inhaled SABA and Anticholinergics
Preventers: Inhaled LABA, LTRA, Corticosteroids (ICS), oral
prednisolone and omalizumab.
o Steroids should be started on the lowest possible dose and must
monitor growth
o Refer to Sunflower page 305 for the 5 stages of management
Side effects of common asthma medications:
ICS: SABA:
o Hoarse voice o Tremors
o Oral candidiasis o Tachycardia
o Growth deceleration o Palpitations
o Osteoporosis o Dry mouth
o Cataracts
o Weight gain

6
 Acute exacerbations of asthma

Definition: An acute episode characterised by:

o Severe asthma symptoms (dyspnoea, cough, wheeze, cyanosis)
o Triggered by: URTI, viruses, exercise, cold, allergens
o Not responding to high dose inhaled bronchodilators

Is this a severe or a life-threatening episode?

Severe: Life-threatening: 33,92, CHEST

o 33-50% predicted peak flow o <33% predicted peak flow
o <92% oxygen saturation o <92% oxygen saturation
o <30 respiratory rate o Cyanosis
o Too breathless to talk o Hypotension
o Exhaustion
o Silent chest
o Tired/ confused
Admission Criteria:
o Exhausted
o Not responding clinically to high dose SABA
o Oxygen saturation <92%
o FEV1< 50%

Management: Refer to Sunflower page 307 for a more detailed

assessment
o Calm and reassurance
o High flow oxygen if saturation <94%
o SABA 10 puffs by a spacer and reassess (nebulised if severe)
o Oral prednisolone (IV hydrocortisone if severe)
o If severe and not responding consider:
Inhaled ipratropium
IV salbutamol
IV Magnesium sulphate

Infusions must not be rapid due to the risk of seizures and fatal
arrhythmias

7
 Cystic fibrosis (CF)

An Autosomal Recessive condition caused by mutations on

chromosome 7 (common mutations: and G551D) with a carrier
rate of 1 in 25
Pathophysiology:
o CFTR is either absent or defective resulting in a dysregulated
electrolytes level (Cl-)
o Net result is an impaired ciliary clearance and retention of
mucopurulent secretions (similar to primary ciliary dyskinesia)
Presentation depends on the affected organ:
o Lungs:
Mucus plugging: Mucous cough
Recurrent infections
o Intestines:
Meconium ileus (15% of patients): Distal intestinal
obstruction causing bilious vomiting in a new born
Meconium plug syndrome: Less severe than ileus
Rectal prolapse
o Pancreas:
Malabsorption: Steatorrhea and growth failure
CF-induced diabetes (N.B this is neither type 1 nor 2)
Pancreatic insufficiency
Common examination findings: clubbing, nasal polyps, crackles

Diagnosis:
o Most cases are detected with new born screening using heel prick
test (Guthrie test) to look for immunoreactive trypsinogen (IRT)
If positive: confirmed using genetic testing and a sweat test
to look for a chloride level >60mmol/l
o Pancreatic insufficiency is diagnosed by a decreased level of
Elastase-1 enzyme (which measures the exocrine pancreatic
function)

Management: MDT (Paediatrics, Respiratory, Dietician, Physiotherapy)

o Immunize up to date
o Chest physiotherapy twice daily (pulmonary toilet)
o Prophylactic antibiotic (flucloxacillin)
o Mucolytics: nebulized DNAse or hypertonic saline
o Azithromycin for its immunomodulatory effects

8
 o Dietary supplements:
150% caloric diet
Lipid soluble vitamins: K, A, D, E
Pancreatic enzymes (CREON) for pancreatic insufficiency
o Management of exacerbations with IV antibiotics (cover
Pseudomonas)
Must arrange for annual review to monitor for complications
o Always check U&E, LFTs, FEV1
Complications: Nasal polyps, pneumothorax, diabetes, cirrhosis, males
infertility, distal intestinal obstruction syndrome (DIOS)

Primary ciliary dyskinesia (PCD)

An Autosomal Recessive condition also called Kartagener s syndrome
Characterised by an impaired motility of cilia
Features:
o Triad of Sinusitis, bronchiectasis, and situs inversus
o With situs inversus there is a right sided heart (dextrocardia) and
a left sided liver
Presentation:
o Young: Recurrent respiratory tract infections and a persistent
cough and rhinitis
o Adolescents and adults: Bronchiectasis and males infertility
Diagnosis:
o Gold standard: Bronchial biopsy or nasal brush for ciliary
assessment
o Imaging:
CT scan -> Bronchiectasis
CXR -> Dextrocardia

Management:
o Immunizations: annual flu and PCV
o Chest physiotherapy twice daily (pulmonary toilet)
o Minimizing complications (ENT and respiratory)

9
 Obstructive sleep apnoea (OSA)

Partial or complete airways obstruction during sleep causing periods of

apnoea and arousal
Predisposing factors:
o Severe obesity
o Craniofacial abnormalities (Pierre-Robin sequence)
o Neuromuscular disease (Duchenne muscular dystrophy)
o Upper airway dystonia (Cerebral palsy)

In children it is most commonly due to adenotonsillar hypertrophy

Presentation:
o A child who is sleepy, moody, a mouth breather
o Hard to arouse from sleep and occasional bed wetting
o Memory deterioration and problems at school
o Growth decline

Diagnosis
o Gold standard is overnight polysomnography (sleep study)
Includes an EEG, pulse oximeter, airflow, chest and
abdominal movements monitors, and pCO2
Apnoea-hypopnoea index (AHI) >1.5/hour

Management:
o Most cases are managed with adenotonsillectomy
If symptoms persist post-op: CPAP
o Others may choose to manage conservatively with:
Weight loss
Intranasal steroids
Watchful waiting for spontaneous resolution

10
 Inflammatory Bowel Disease (IBD)

In children, Cohn s disease is more common than ulcerative colitis

Pathology:
o Transmural inflammation with non-caseating granulomas
o Crohn s disease commonly affects the terminal ileum, but may
occur anywhere from mouth to anus
o May cause strictures, adhesions, fistulas, and abscesses

Presentation:
o Most commonly: Weight loss, diarrhoea, and abdominal pain
o May also present with bloody stool and toxic megacolon
o Extra-intestinal features:
Erythema nodosum
Pyoderma gangrenosum
Uveitis
Arthritis
o Systemic features: fever, tachycardia, anaemia

Diagnosis:
o Gold standard: Colonoscopy and biopsy
o FBC for anaemia, CRP and ESR are also elevated
o Stool cultures often necessary to exclude infective causes of colitis

Severity is graded using Paris classification which takes into account the
age at diagnosis, location of involvement, behaviour of disease, and the
child s growth

Management:
o Anti-inflammatories for the active disease: Sulfasalazine
(DMARDS) and Mesalazine (5-ASA)
o For relapses:
Steroids
Immunosuppressants to maintain remission: azathioprine
o For treatment-resistant cases, consider biological agents:
Infliximab (anti-TNF)
o Consider surgery for very advanced disease and for toxic
megacolon

11
 Coeliac disease

An autoimmune disease caused by an abnormal response to the gliadin

component of gluten
The immune response results in the damage of the small bowel,
ultimately leading to malabsorption
Presentation:
o Young children: Failure to thrive and a distended abdomen
o Older children: Weight loss and buttocks wasting
o Other features:
Anaemia
Steatorrhea
Micronutrients deficiencies: Iron, Folate, Vitamin D, Calcium

Associated with other autoimmune disease (diabetes, Hashimoto s)

o Dermatitis herpetiformis is an autoimmune skin condition often
found with coeliac disease but it is not caused by it

Diagnosis: MUST be on a normal diet including gluten

o Gold standard: Jejunal biopsy
Showing villous atrophy and crypt hypertrophy
o Serology: Elevated IgA tTG (tissue transglutaminase)
IgG can also be used if the patient has IgA deficiency
EMA is another marker used for coeliac disease
o Blood tests to look for deficiencies (vitamin D, calcium, iron)
Management:
o Gluten free diet
o Supplementation of deficiencies
Complications (from non-adherence to diet):
o Micronutrients deficiencies
o Osteopenia
o Bowel lymphoma

If a patient presents with a clinical picture suggestive of coeliac disease +

signs of infection -> consider an infection with Giardia lamblia imitating
coeliac disease (Tx: metronidazole)

12
 Gastro-oesophageal reflux disease (GORD)

Different from simple reflux in infants (posseting): Occurs in 40% of

infants after feeds and resolves by 1 year
Only considered a disease if occurring with complications:
o Failure to thrive
o Oesophagitis/ Oesophageal strictures
o Aspiration pneumonitis
o Sandifer s syndrome*
Predisposing factors:
o Cerebral palsy
o Neurodevelopmental disorders
o Bronchopulmonary dysplasia
o Post-surgery
Diagnosis is clinical but can be tested with a 24hours oesophageal pH
study
Management:
o Simple measures such as smaller feeds, winding, and keeping the
baby upright
o Adding thickeners to feeds (Carobel)
o If not improving consider other causes such as cow milk protein
allergy
o Last line of treatment: Nissen fundoplication surgery

Sandifer s syndrome: A manifestation of GORD which imitates seizures

o Causes the child to adapt an opisthotonic posture with dystonic neck
and trunk movements in reaction to the acidic reflux

Cow s milk protein allergy (CMPA)

Non-IgE mediated: IgE mediated:

o Causes delayed o Causes immediate symptoms:
gastrointestinal symptoms o Wheeze
o Over time leads to a failure o Conjunctivitis
to thrive o Angioedema
o Also GI symptoms

o Management of both is by avoiding cow s milk and substitution with a

hydrolysed formula.

13
 Surgical topics

Tracheo-oesophageal fistula (TOF):

o Most commonly occurs with oesophageal atresia (95%)
o Presents as a frothy and choking new born (often with
polyhydramnios), NGT can t be passed
o Diagnosed with a CXR and treated with surgical correction
o Associated with VACTERL syndrome

Pyloric stenosis:
o Usually occurs in children 3-12 weeks old
o Presents with:
Projectile NON-BILLIOUS vomiting
An olive-like mass palpable superficially at the epigastric
region (level of the pylorus)
o Consequences of repetitive vomiting: hypokalaemic,
hypochloraemic, metabolic ALKALOSIS
o Management: A surgical emergency
ABCs + IV fluids + electrolytes correction
Surgery: Ramstedt pyloromyotomy

Duodenal atresia:
o Presents postnatally with BILIOUS vomiting
o Most cases occur as isolated lesions; only 30% occur with T21
o Diagnosis: Plain film showing the double-bubble sign
o Management: similar to above (ABCs and surgery)

Volvulus:
o Presents with BILIOUS vomiting, abdominal distention, and PR
blood, often in shock
o Often associated with malrotation, and occurs as a midgut
volvulus
o Diagnosis: Barium enema showing the bird s-beak sign
o Management: similar to above (ABCs and surgery)
Intussusception:
o Usually occurs between 6 months 2 years
o Child usually presents screaming with drawn up legs and passing
redcurrant jelly stool
o Diagnosis: ultrasound showing the donut sign
o Tx: ABCs then air enema or surgery

14
Gastroschisis:
o An abdominal wall defect occurring to the right of the umbilical
cord insertion without a covering membrane
o More common in young mothers taking recreational drugs
o Associated with IUGR, prematurity, low birth weight
o Tx: Surgical repair
Risk of complication with abdominal Compartment
Syndrome leading to organs ischaemia
Omphalocele (Exomphalos):
o Size: Minor <5 cm/ Major > 5 cm
o Associated with Beckwith-Wiedemann syndrome (organomegaly)
o Minor lesions often mistaken for umbilical hernias
o It is essential to do an echocardiogram and genetic karyotyping
to exclude other disorders
o Tx: Minor: Surgical closure/ Major: Staged surgical closure
Hirschsprung s disease:
o Congenital absence of ganglionic cells in the distal rectum
o Presents with a distal obstruction causing BILIOUS vomiting
and a failure to pass meconium within 48 hours
o Diagnosis: Barium enema (dilatation) then rectal biopsy
o Tx: Resection of the affected bowel segment
Necrotising enterocolitis (NEC):
o Acute ischaemic necrosis of the intestines occurring mostly in
premature infants <32 weeks
o Presents with abdominal distention, BILIOUS vomiting, blood PR
o Predisposing factors: PDA, Cardiac surgery, sepsis
o Tx:
NPO + TPN + ANTIBIOTICS for 10 days
Surgery if perforated

Differential diagnosis for vomiting in a new born:

BILLIOUS: Non-bilious:
o Severe gastroenteritis o Mild gastroenteritis
o NEC o GORD
o Distal obstruction o Pyloric stenosis
Duodenal atresia
Meconium ileus
Volvulus
Hirschsprung s

15
 Testicular disease

Painful scrotal swelling:

1. Torsion of the appendix (an embryological remnant):
a. A prepubertal child with a severe onset scrotal pain and
swelling
2. Testicular torsion:
a. A neonate or a post-pubertal child with a similar presentation +
nausea and vomiting and an absent cremasteric reflex
o Both need an urgent surgical repair within a 6 hours window

3. Incarcerated hernia: Audible bowel in scrotum

4. Orchitis/epididymitis

Painless scrotal swelling:

1. Hydrocele: Most resolve spontaneously by 2 years of age
2. Inguinal hernia
All are INDIRECT, entering the scrotum through patent
processus vaginalus
Increases in size with crying (increased abdominal pressure)
Tx: Surgical repair, urgent if irreducible or strangulated

Undescended testes (Cryptorchidism):

o Must confirm that the testes are present in the abdomen (a true
cryptorchidism): physical palpation and ultrasound (especially if
impalpable bilaterally)
o Usually descend spontaneously by 4 months of age
o If it is a true cryptorchidism and yet they have not descended
spontaneously by 4 months, refer to a paediatric urologist
between 4-12 months for surgical correction
o Risk of non-correction before 12 months of age: Infertility,
testicular torsion, testicular trauma and testicular cancer

16
 Type 1 diabetes mellitus (T1DM)

An autoimmune disease characterised by the destruction of B islet cells

of the pancreas, with a prevalence of 2 in 1000
Associated with other autoimmune disease (Coeliac and thyroid)
Presentation:
o Classical triad: polyuria, polydipsia, weight loss
o DKA: abdominal pain, vomiting, confusion, Kussmaul respiration
Diagnosis (American Diabetes Association criteria) any of:
1. Fasting blood glucose 7mmol/l
2. Classical triad + random blood glucose 11mmol/l
3. OGTT
4. HbA1C
Management:
o Non-pharmacological:
Education, healthy diet, keep diary of episodes and diet
NO sick-day rule
Monitor growth
o Pharmacological:
The goal is to achieve HbA1C <48mmol/l and pre-prandial
glucose between 4-7mmol/l
Basal-bolus regimen:
1 morning basal dose of Glargine
3 pre-prandial bolus doses of Novorapid
Continuous insulin pump
Complication:
o DKA (most common)
o Microvascular (diabetic nephropathy, neuropathy, retinopathy)
and Macrovascular (atherosclerosis) are less common in children

Diabetic ketoacidosis (DKA): Abdominal pain, vomiting, confusion

o Diagnosis: ALL of the following (ICU if significantly changed)
Hyperglycaemia: Random blood glucose: >11 mmol/l
Metabolic acidosis: VBG pH <7.3 or bicarbonates <15
Ketosis: Blood ketones >3mmol/l or +2 urine dipstick
o Others to identify precipitants: FBC, U&E, ECG, CXR, cultures
o Management:

IV 0.9% saline for 1 hour (+K if hypokalaemic) then start

basal insulin and switch to 5% dextrose

17
 Thyroid disease

Hypothyroidism:
o Features: Dry and cold skin, constipation, coarse features, goitre
o Types:
Congenital: Acquired:
o Prevalence: 1 in 4000 o Autoimmune process
o Caused by dyshormonogenesis o Associated with T21 and Turners
or deficiencies of iodine or TSH o More common in females
o Causes developmental delay o Causes delayed puberty
o Tested with Heelprick test o Tx: Thyroxine for life

Hyperthyroidism:
o Features: Sweaty and warm skin, diarrhoea, tremor, goitre,
exophthalmos
o Management:
First-line:
2 years therapy with carbimazole or propylthiouracil
S/E neutropenia
Second-line:
Radio-iodine therapy or subtotal thyroidectomy
Requires thyroxine replacement post-op

Cushing s syndrome
Syndrome of excessive glucocorticoids
Causes:
o Iatrogenic: long-term use of glucocorticoids (commonly with
asthma and nephrotic syndrome)
o Tumours:
ACTH-secreting pituitary adenoma
Ectopic ACTH-producing tumours
Adrenocortical tumours
Features:
o Short and obese (facial obesity/moon facies)
o Osteopenia
o Hirsutism and striae
o Psychological: depression and lethargy
Tx: Cause-oriented

18
 Congenital adrenal hyperplasia (CAH)

Congenital deficiency of 21-hydroxylase (90% of cases) due to mutations

in the CYP21A2 gene, resulting in excessive production of androgens
Presentation:
o Females: virilisation of external genitalia
o Males: scrotal hyperpigmentation and penile enlargement
o Salt-losing crises at week 2-3: dehydration, low Na+ and high K+
Diagnosis:
o Definitive diagnosis: High level of 17-hydroxyprogesterone
o Low level of 21-hydroxylase
o U&E to rule out salt-losing crisis
o At birth, must perform genetic karyotyping to confirm the sex of
the child, and ultrasound of the sex organ to confirm its integrity
Management:
o Surgical correction of ambiguous organ
o Management of any salt-losing crises: NaCl, glucose, IV
hydrocortisone
o Life-long hormonal replacement:
Glucocorticoids: Hydrocortisone
Mineralocorticoids: Fludrocortisone
o Monitor growth

Precocious puberty

Males: Onset of puberty before 9 years of age

o Causes:
Gonadotropins-independent: Adrenal tumour or CAH
(small testes), or testicular tumour (unilaterally enlarged)
Gonadotropins-dependent: CNS tumours, liver tumours,
hypothyroidism, idiopathic (bilaterally enlarged testes in all)
Females: Onset of puberty before 8 years of age
o Causes:
Gonadotropins-independent: Ovarian tumour, CAH,
exogenous steroids (puberty is rapid and abnormal)
Gonadotropins-dependent: CNS tumours, hypothyroidism,
idiopathic (puberty is rapid but normal features)
For both, must perform MRI to exclude CNS causes, and treat per cause

19
 Anaemia

Iron-deficiency anaemia:
o Causes:
Low iron intake
Malabsorption: coeliac
Blood loss: Meckel s diverticulum
o Presentation:
Fatigue, dizziness, cold, dyspnoea, poor feeding, pica
Signs of anaemia:
Pale, pallor, angular cheilitis, atrophic glossitis
o Diagnosis:
FBC: Low Hb and mcv
Iron studies: Low iron and ferritin, High Total iron binding
capacity (TIBC)
Blood smear: Microcytic hypochromic RBC without
schistocytes
o Management:
Dietary advice and iron supplement (Galfer) until iron level
is normal for 3 months
Hereditary spherocytosis:
o An Autosomal Dominant condition caused by mutations in
Spectrin/Ankyrin-1/Band 3 proteins, resulting in a defective RBC
membrane
o Clinical features:
Features of anaemia + jaundice (due to haemolysis)
Splenomegaly
May present with aplastic crisis after infections with
parvovirus B19
Aplastic crisis is the failure of the bone marrow to
produce reticulocytes (immature RBC)
o Diagnosis:
FBC: Low Hb and high reticulocytes
Blood smear: spherocytes
Confirmatory test: EMA binding test
o Management:
Supportive management: folic acid and transfusions
If severe disease with aplastic crisis:
Splenectomy and cholecystectomy

20
 G6PD deficiency

An X-linked Recessive disorder commonly seen in patients from the

Middle-East and Africa
G6PD enzyme protects the RBC from oxidation and haemolysis
Precipitants (oxidative agents):
o Infections (Biggest precipitant)
o Antibiotics: Co-trimoxazole, sulphonamides, quinolones
o Analgesics: Aspirin
o Chemicals: Naphthalene
o Food: Fava Beans
Presentation:
o Acute haemolysis from exposure to precipitant(s):
Features of anaemia + jaundice + dark urine
Abdominal pain, malaise, fever
Diagnosis:
o G6PD enzyme assay: not to be performed during an acute
haemolytic episode (due to high rates of false-negatives)
Management:
o Avoid precipitants (esp. drugs and food)
o Treat infections
o Manage acute haemolytic episodes: hydration and transfusions

-Thalassaemia

A disorder of abnormal haemoglobin production

Commonly seen in patients from India, Middle-East, and Mediterranean
origins
Types:
o Major: Transfusion-dependent, can t produce HbA
o Intermedia: Produces a small amount of HbA
Presentation: 3-6 months old
o Severe and transfusion-dependent anaemia and jaundice
o Faltering growth
o If untreated: maxillary overgrowth and skull bossing
Management:
o Regular blood transfusions + deferoxamine (iron-chelator to
prevent iron deposition in body organs from long term
transfusions, which might lead to cirrhosis and cardiomyopathy)

21
 Sickle cell disease (SCD)

An Autosomal Recessive disorder caused by the replacement of

glutamine by valine on codon 6 of the B-globin gene
Occurs in 1 in 2000, commonly in patients of Afro-Caribbean origins
Different phenotypes:
1. SC anaemia (HbSS), referred to as SCD
2. SC disease (HbSC), a milder form
3. SC B-thalassaemia (HbS), discussed in the previous page
Clinical features: anaemia, jaundice, splenomegaly
Presentations:
1. Vaso-occlusive episodes: precipitated by low oxygen, cold,
exercise (also called painful crises)
Dactylitis (typically the first presenting complaint at 6
months)
Avascular necrosis of long bones
Priapism: Painful erection leading to necrosis
Acute chest syndrome
2. Long-term sequalae of chronic anaemia:
CVA, cardiac disease, renal disease, leg ulcers, delayed
puberty
3. Acute haemolytic or aplastic anaemia
Management:
o Long-term penicillin prophylaxis and annual immunization with flu
and PCV
o Avoid precipitants of crises (dehydration, cold)
o Management of painful crises:
Analgesia, fluids, and antibiotics (if infection-induced)
+ Exchange transfusion for acute chest syndrome, priapism
or stroke
o Chronic disease:
Hydroxycarbamide to boost the child s HbF production (S/E
white cell suppression)
If it fails, consider bone marrow transplant (BMT)

22
 Haemophilia

An X-linked Recessive disorder characterised by recurrent spontaneous

bleeding into joints and muscles, ultimately leading to crippling arthritis
Types:
o A -> Factor 8 deficiency
o B -> Factor 9 deficiency
Presentation:
o As early as birth with scalp haematoma
o Neonates:
Bleeding post-circumcision
Seizures from intracranial haemorrhage
o Children:
Tripping and bleeding
o Any spontaneous bleeding without minor trauma indicates severe
disease with <1% factors present
Diagnosis:
o Coagulation screen:
Prolonged aPTT, Normal PT and Platelets
o Factor activity levels:
F8/F9 <5%
Management:
o Prophylactic factor therapy for patient with high risk of bleeding
o Active bleeding:
Transfusion of recombinant F8 for type A, or F9 for type B
If type is unknown, give FFP
o Mild haemophilia can be managed with desmopressin (DDAVP)
o Caution: Always avoid NSAIDs, Aspirin, & IM injections (go SC)
Recurrent bleeding may lead to haemophilic arthropathic necessitating
joint replacement

Von Willebrand disease (vWD): An Autosomal Dominant condition

causing deficiency of vWF (factor) and thus low F8
o Similar picture to haemophilia but much milder and without
spontaneous bleeding
o Managed with Desmopressin (or F8 transfusion if severe)

23
 Acute lymphoblastic leukaemia (ALL)

Most common type of leukaemia in children (80%) with a peak at 2-6

years of age
Presentation:
o Insidious onset of constitutional symptoms and anaemia
o Infections
o Bruising and bone pain (most common presentation)
o Hepatosplenomegaly and lymphadenopathy
Complications:
o Metastases
o Mediastinal mass producing obstruction symptoms: dyspnoea,
dysphagia
o DIC
o Tumour lysis syndrome (TLS)*
Diagnosis:
o Gold standard: Bone marrow smear looking for blast cells
o FBC: Pancytopenia (low Hb, WCC, platelets)
o Coagulation screen: DIC (high aPTT and D-dimers, low fibrinogen)
o CXR and LP for metastases
Management:
o Correction of blood abnormalities (anaemia, infection, platelets)
o Hydration + Allopurinol to protect against tumour lysis syndrome
o Chemotherapy (vincristine) + steroids
o Intrathecal cytotoxic injection for CNS tumour spread

Tumour lysis syndrome: A metabolic abnormality occurring during the

treatment of cancer, due to the rapid cell turnover
o High K, P, Urea
o Low Ca
o Leading to renal failure
o Tx: Hyperhydration, diuretics, electrolytes correction
If AKI -> dialysis

Acute myeloid leukaemia (AML) is less common, occurs at a later age

(less common than ALL in paediatrics), and is more aggressive.
o Differentiated from ALL by cytological assessment

24
 Lymphoma

Hodgkin s lymphoma:
o Characterised by the presence of Reed-Sternberg cells
(multinucleated giant cells)
o Presentation:
Painless cervical lymphadenopathy
Mediastinal mass causing airway obstruction
B symptoms: fatigue, anorexia, weight loss, fever
o Diagnosis:
Gold standard: Lymph node excisional biopsy
Bone marrow aspiration biopsy
Imaging for staging: CXR, CT, PET
o Management:
Chemotherapy + Radiotherapy
Chemo VAMP: vinblastine, Adriamycin (doxorubicin),
methotrexate, prednisolone (additional information)
Response is monitored with PET scan

Non-Hodgkin s lymphoma (NHL):

o Unlike adults, most paediatric NHL are of high grade and have
aggressive clinical behaviour
o Neoplastic cells derived from B-cells or T-cells
o Presentation:
Painless lymphadenopathy
Mediastinal mass causing airway obstruction
Abdominal obstruction
Spinal cord compression
B symptoms are less common
o Diagnosis: same as Hodgkin s

o Management: Combination chemotherapy

o Special subtype: Burkitt s lymphoma

A highly aggressive B-cell NHL
Associated with HIV and chronic EBV infections
Characteristic feature of a rapidly growing facial mass
Tx: combination chemotherapy + Rituximab (anti-CD20)

25
 Kawasaki disease

Idiopathic, acute and a self-limiting vasculitis occurring in childhood,

more commonly in males
Diagnostic criteria (includes features):
o Unexplained fever >38.5C for 5 days + 4 out of 5:
1. Strawberry tongue
2. Conjunctivitis without exudate
3. Cervical lymphadenopathy
4. Polymorphous exanthem (urticaria or maculopapular rash)
5. Changes in arms or legs (swelling or redness)

Diagnosis: Purely clinical and by exclusion

o Essential to perform ultrasound of the heart to screen for
coronary artery aneurysm (20% risk of complication)

Management:
o IVIG in the acute phase to prevent coronary artery aneurysm
o Aspirin for 6 weeks
Kawasaki s is one of the few paediatric indications for
aspirin which may cause Reye s syndrome:
Hepatic and cerebral oedema causing vomiting and
seizures (Tx: mannitol)

Henoch-Schonlein Purpura (HSP)

A systemic vasculitis occurring in children 2 8 years old, following
URTI, resulting in IgA immune complex deposits in the:
o Skin -> Characteristic purpuric rash (palpable)
o Joints -> Arthralgia
o GI -> Abdominal pain
o Kidneys -> Haematuria
Diagnosis:
o Biopsy of lesions to detect IgA deposits
o Urinalysis for blood
Management: Self-limiting condition
o Supportive measures
o Corticosteroids: prednisolone

26
Idiopathic thrombocytopenia purpura (ITP) is similar to HSP, occurring
after an URTI, and resulting in low platelets count.
Manifests as extensive petechia/purpura and mucosal bleeding if severe
o Usually mild and resolves in 3 weeks (avoid NSAIDS), but if severe
give IVIG and steroids

Haemolytic uraemic syndrome (HUS)

An inflammatory disease characterised by a triad of:

o Haemolytic anaemia
o Thrombocytopenia
o Acute kidney injury (AKI)
Classification:
o Primary HUS: atypical disease occurring without a coexisting
condition
o Secondary HUS: the typical disease occurring after a precipitant
HUS in children mostly refers to the secondary type which occurs after a
GI infection with a shiga toxin-producing E. coli (STEC)
o This is a post-infectious inflammatory process and not an
infectious disease
Presentation:
o Bloody diarrhoea
o Nausea and vomiting
o Abdominal pain
o Anaemia and jaundice
Diagnosis: Triad
o FBC: anaemia and thrombocytopenia
o Serum creatinine and urinary output: AKI
o Other tests:
Blood smear: schistocytes
Stool culture: to identify toxin
Management:
o ABCs and immediate resuscitation
o Monitor vitals especially BP and urinary output, consider dialysis if
there is evidence of AKI
o Supportive measures: IV fluids
o DON T give antibiotics or anti-diarrhoea agents
killing the bacteria would release their toxin and result in
more damage

27
 Urinary tract infections (UTIs)

UTIs vary widely depending on the age of the child

Common causative organisms:
o E. coli, Proteus, Pseudomonas, Klebsella, Strep faecalis
o Pseudomonas is often associated with tract abnormalities
o Proteus is more common in males, and predisposes to stones
o Most UTIs in children occur due to ascending bowel flora

Presentation:
o Infants: Non-specific symptoms
Fever, vomiting, lethargy, poor feeding
Septicaemia
Febrile seizures
o Children: More localised symptoms
Dysuria, frequency, urgency
Abdominal pain
Fever
Also possibly sepsis and febrile seizures
Diagnosis:
o Urinalysis: raised leucocytes and nitrites
o Urinary microscopy, cultures and sensitivity
o If the child is <1 year old, investigate with:
MCUG for evidence of vesicoureteric reflux (VUR)
DMSA scan for evidence of kidney scarring

Management: Temple/Crumlin guidelines

o If <2 months old: IV Amoxicillin + IV Gentamicin + IV Cefotaxime
o If >2 months old:
Systematically unwell: IV Co-amoxiclav + IV Gentamicin
Systematically well: PO Co-amoxiclav

Preventive measures:
o High fluid intake
o Regular complete voiding
o Good perineal hygiene
o Treatment of constipation

28
 Nephrotic syndrome

A renal disease characterised by a triad of:

o Proteinuria
o Hypoalbuminemia
o Oedema
Causes: Minimal change disease (MCD) in most cases
o Others: membranous GN, focal segmental GN

Proteins lost in the urine include immunoglobulins and anti-thrombin III,

leaving the child predisposed to infections and a hypercoagulation state
Presentation:
o Signs of oedema:
Puffy eyes and ankles
Dyspnoea
Abdominal distension and ascites
o Normal BP and no haematuria (not nephritic syndrome)
o May rarely present with infections or thromboembolism due to
protein loss

Diagnosis: Clinical suspicion + confirmed proteinuria

o FBC: for infections and haematocrit
o U&E and creatinine: for renal function
o LFT: for low albumin
o Urinary dipstick: for proteinuria
The cause can be assumed to be MCD if:
o Age 1-12
o Normal complement levels
o No hypertension, gross haematuria, or high creatinine (which
would suggest nephritic syndrome)
Management:
o IV fluids and albumin
o Prednisolone for 6 weeks
If non-responsive, consider renal biopsy to identify other
causes

29
 Wilms tumour

Also known as Nephroblastoma, the most common renal malignancy in

children, occurring mostly in <5 years old
Associated with WAGR syndrome: WILMS, Aniridia, GU anomalies and
Retardation (mental)
Genetic mutations: WT-1, p53, 11p15.5
Presentation: Abdominal mass and haematuria
o Any abdominal mass in children should be considered WILMS
tumour until proven otherwise
Diagnosis:
o First step: Abdominal ultrasound to identify mass, followed with
CT/MRI
o Definitive diagnosis: biopsy and histological assessment
o CXR: for metastases
Management: Depends on grading and staging from NWTS criteria
o Neoadjuvant chemotherapy + delayed nephrectomy

Neuroblastoma

A malignant tumour originating from the neural crest cells of the

sympathetic chain, occurring mostly in < 5 years old
Genetic mutations: MYCN, PHOX2B, ALK 1&11
Can occur anywhere along the sympathetic tract, including the adrenal
medulla
Presentation:
o Localising symptoms depending on its location
o Abdominal mass
o Systemic features: weight loss, fever, fatigue
o Paraneoplastic/metastatic manifestations
Diagnosis:
o Elevated serum and urinary catecholamines HVA and VMA levels
(also used to monitor treatment response)
o Ultrasound and biopsy for a definitive histological diagnosis
o Staging: CT/MRI and I123-MIBG scan (for bone metastases)
Management: Depends on risk stratification
o Neoadjuvant chemotherapy + surgery (+ immunotherapy if high
risk)

30
 Duchenne s muscular dystrophy

An X-linked Recessive disorder due to a mutation in the dystrophin

gene, leading to a progressive weakness from the lower to upper body
Presentation:
o At 2-3 years: difficulty walking and jumping
Gower s sign and calf pseudohypertrophy (scar tissue)
Also causes learning difficulties
o At 12 years: Chair bound ± scoliosis and poor pulmonary function
o 30-40: Death from cardiorespiratory compromise
Becker s muscular dystrophy has exactly the same features as
Duchenne s but much milder (dystrophin gene is abnormal in B and
absent in D)
Diagnosis:
o Very high plasma creatinine kinase
o Definitive diagnosis by genetic analysis for dystrophin gene
o Muscle biopsy in general not needed
Management: MDT approach
o Physiotherapy + splints + steroids
o Surgery for complications such as scoliosis
o CPAP for advanced disease

Spinal muscular atrophy

An Autosomal Recessive neurodegenerative disorder due to a mutation
of SMN1 gene on chromosome 5q13, with an incidence of 1 in 10,000
Classification:
o Type 1 (Also called Werdnig-Hoffman disease)
Most severe form, with an onset within the first 6 months
Never able to sit, and dies before 2 years
o Type 2:
Intermediate severity with an onset between 6 18 months
Able to sit and walk with support, and dies after 2 years
o Type 3:
Mildest form with a juvenile onset, deteriorating in the 30s
Infants are typically hypotonic, have breathing difficulties and unable to
suck or swallow. Chronically: scoliosis and muscular atrophy
Management: Occupational and nutritional support
o Novel agent: Nusinersin (an antisense oligonucleotide)

31
 Juvenile idiopathic arthritis

Defined as arthritis occurring for more than 6 weeks in those younger

than 16 years
Presentation:
o Young child avoiding regular activities
o Chronic limp with arthralgia, myalgia, or swollen joint(s)
Classification:
o Oligoarthritis: ANA positive
<4 joints involved asymmetrically
Most commonly: knee, ankle, wrist
Chronic anterior uveitis
o Polyarthritis: RF positive or negative
>5 joints involved symmetrically
Mixed small and large joints (also TMJ), NOT MCP
o Both oligo- and poly- affect females more than males with an
onset between 1-6 years old

o Systemic JIA: Onset 1-10 years, M=F

May present with oligo- or poly- joint pattern but initially
only arthralgia without arthritic changes
Hallmark is the presence of systemic features:
High grade fever, salmon-pink rash
Anaemia and raised CRP & ESR
Lymphadenopathy and hepatosplenomegaly
Similar presentation to SLE, Kawasaki s, and rheumatic fever
o Other types: Psoriatic arthritis, enthesitis-related arthritis
Management: MDT approach
1. Physiotherapy
2. Analgesia: NSAIDs
3. Joint steroid injections: for oligoarthritis
4. Methotrexate: for polyarthritis, requires steroid injections prior to
starting MTX (bridging steroids)
MTX-resistant disease -> Biological agents (e.g. Infliximab)
5. Systemic steroids: for severe disease, risk of causing osteoporosis
and growth suppression

32
 Rickets

A disease caused by the failure of mineralisation of the growing bone

(when the same happens in the mature bone, it is called osteomalacia),
due to deficiency of vitamin D
Causes of vitamin D deficiency:
o Poor sun exposure
o Low dietary intake of vitamin D, calcium, or phosphate (strict
vegan diet)
o Malabsorption: CF, coeliac, liver disease
o Defects in the processing of vitamin D:
Chronic liver/renal disease/Fanconi syndrome
Drugs: Phenobarbital
Clinical features:
o Craniotabes (softening of the skull)
o Costochondral rachitic rosary
o Wide wrists and ankle
o Harrison sulcus
o Bowed legs
o Infants may present with seizures from hypocalcaemia
Diagnosis:
o Dietary assessment
o Blood tests:
Decreased calcium, phosphate, 25-hydroxyvitamin D
Increased PTH & Alkaline phosphate
o X-ray of wrists showing cupping (widening)
Management:
o Identify cause, treat and supplement
Nutritional rickets (dietary deficiency): Optimize diet and
supplement with cholecalciferol
Hypophosphatemic rickets: X-linked dominant hereditary
disorder which is resistant to vitamin D, supplemented with
phosphate and calcitriol
New novel agent: Burosumab (anti-FGF-23)

33
 Other MSK conditions

Transient synovitis: Most common cause of acute limp in 2-12 years old
o Features: Decreased ROM, no pain at rest, and all tests negative
o Tx: Rest + NSAIDs
o Must exclude septic arthritis:
High fever, acutely unwell, erythematous tender joint
Most common organism is Staph aureus (varies with age)
Diagnosis: Joint aspiration and blood for MC&S
Tx: Depends on causative organism but generally IV
Flucloxacillin + gentamicin for 2-4 weeks
Perthes disease:
o Idiopathic avascular necrosis of femoral epiphysis, occurring in 5-
10 years old children, more commonly in males
o Insidious onset of hip pain associated with activity
o Bone x-ray shows increased density of the femoral head early in
the disease, progressing to show irregular edges later
o Tx:
Conservative measures
Surgical intervention if severe
Slipped upper femoral epiphysis (SUFE):
o Femoral head displaces postero-inferiorly, most commonly in 10-
15 years old obese males
o Acute limp referred to knee with reduced ROM
o Tx: Surgical intervention to prevent avascular necrosis
Achondroplasia:
o 50% of cases are Autosomal Dominant, and 50% from new
mutations
o Features: short stature, short limbs, frontal bossing, lumbar
lordosis
Osteogenesis imperfecta (Brittle bone disease):
o A group of disorders of collagen metabolism causing bone
fragility, most common is type 1 which is Autosome Dominant
(type 2 is a severe and lethal form at birth)
o Features: Unexplained fractures, blue sclera, hearing loss in a few
o Tx: Bisphosphonates

34
 Seizures

Non-epileptic seizures:
o Convulsive Syncope: Cardiac, reflex anoxic, vasovagal, or blue
breath-holding spells (toddler becomes upset, holds his breath and
becomes cyanotic)
o Benign sleep myoclonus: Bilateral repetitive myoclonic jerks
occurring at NREM sleep, resolves by 2-3 months of age
o Idiopathic/medically unexplained

Epileptic seizures:
o These conditions are characterised by a tendency to develop
recurrent UNPROVOKED seizures. Established once the child
experiences 2 unprovoked seizures >24hours apart
o 80% are genetic/idiopathic, occurring without an identifiable cause

Condition Characteristics Treatment agent

Febrile seizures Seizure + fever without and Generally not
6 months 5 years intracranial infection (e.g. UTI) required
Generalized tonic-clonic Antipyretics

Infantile spasms Violent flexor spasms of head, Vigabatrin or

(West syndrome) trunk, and limbs steroids
Before 12 months Developmental delay
EEG pattern: Hypsarrhythmia

Rolandic epilepsy Tonic-clonic seizure in sleep Generally not

EEG pattern: Centro-temporal required
spikes

Absence epilepsy Transient loss of consciousness Valproate/

with mouth open and eyes Ethosuximide
blinking
EEG pattern: Spike and wave
o General approach for antiepileptics use:
o Generalized tonic-clonic -> Lamotrigine/ valproate
o Generalized myoclonic -> Levetiracetam/ valproate
o Focal (frontal/temporal...) -> Carbamazepine / valproate
o N.B. Review the management of status epilepticus

35
 Cerebral palsy

A permanent disorder of movement and posture due to a non-

progressive lesion in the developing brain
Increased incidence with decreasing gestational age and lower birth
weight (these 2 are the biggest risk factors)
Causes:
o Antenatal (80% of causes): CVA, structural malformations
o Perinatal: Hypoxic ischaemic encephalopathy (HIE)
o Neonatal:
Hyperbilirubinemia
Hypoglycaemia
Infections: TORCH, meningitis, encephalitis
Head trauma
Hydrocephalus
Classification of types:
o Spastic (90%) :
Hemiplegic:
Associated with neonatal MCA stroke
Arms are more affected than legs
Diplegic:
Associated with prematurity and PVL
Lower limbs are more affected than upper limbs
Quadriplegic:
Associated with SGA infants and neonatal infections
Poor central tone, and tendency to develop seizures
o Dyskinetic: Caused by damage to the BG and hippocampus
Choreoathetotic movements, associated with kernicterus
(MRI shows BG damage)
Dystonic (twisting) movements
o Ataxic: Often has an identified genetic cause
Symmetrical cerebellar signs
o Mixed
Management: The goal is to improve independence and motor function
as classified in GMFCS (1 able to walk and climb stairs, 5 chair-bound)
o MDT including physio, psycho, dietician, S&L input
o For spastic movements: Baclofen oral/botulinum injections
If all fail consider baclofen pump or selective dorsal
rhizotomy surgery

36
 Hydrocephalus

A disease characterised by the accumulation of CSF in the brain

Classification:
o Obstructive:
Congenital causes: Aqueduct stenosis, Type 2 Chiari
malformation
Intraventricular haemorrhage in preterm infants
Neoplasm in the posterior fossa
o Non-obstructive (communicating):
Subarachnoid haemorrhage (SAH)
Meningitis

Clinical features:
o Neonates:
Macrocephaly
Bulging fontanelle
Separation of cranial sutures
Sunsetting eyes
o Older children: Signs of raised ICP
Early morning nausea and vomiting
Headache
Confusion
Seizures

Diagnosis:
o Antenatal scan revealing congenital anomalies
o Postnatal:
OFC
Ultrasound
CT/MRI

Management: Depending on the cause

o VP shunts
Complications: Blockage, infection, over-drainage (low ICP),
peritoneal perforation.
o Endoscopic ventriculostomy
o Short-term diuretics (furosemide & acetazolamide) for patients
unfit for surgical interventions

37
 Neural tube defects (NTDs)

A group of defects characterised by the failure of closure of the neural

plate at day 26-28 of development
Different manifestations:
o Anencephaly: Absence of the forebrain
o Encephalocele: Sac lack protrusion of the brain through the skull
o Spina bifida:
Occulta: Appears only as a tuft of hair or a birth mark
Meningocele: Protrusion of the meninges
Myelomeningocele: Protrusion of the meninges and the
spinal cord. Most severe if above the level of L3
Prevented by folic acid supplementation:
o 0.4mg/d, starting 3 months prior to conception and throughout
the first trimester
o 5 mg/d if at high-risk (previous baby with NTD)
Other maternal factors to consider:
o Diabetes, smoking, teratogens (valproate, carbamazepine)
Diagnosis:
o Antenatal screening:
Raised maternal serum alpha-fetoprotein (ms-AFP)
Ultrasound showing spinal/cerebral defects
o Those identified should be offered genetic karyotyping to rule out
genetic disorders
Complications:
o Hydrocephalus
o Scoliosis
o Neuropathic bladder/bowel
o Lower limb sensory loss (tethered cord)
Management: Depends on manifestations
o Surgical closure of the spinal opening
o VP shunt for hydrocephalus
o Neuropathic bladder: catheter, prophylactic antibiotics,
anticholinergics
o Neuropathic bowel: prevent constipation, ACE procedure for
incontinence
o Physiotherapy for lower limbs

38
 Neurocutaneous syndromes

Neurofibromatosis type 1 (NF-1): NF 1 > 2

o Both type 1 and 2 are Autosomal Dominant and are associated
with MEN syndrome
o Diagnostic criteria: Need 2 or more of the following:
-au-lait macules (>5mm if prepubertal or >15mm
if postpubertal)
2 Neurofibroma
2 Lesch nodules in iris (no visual effects)
Optic pathway glioma (leads to blindness)
Axillary freckling (Crow s sign)
Sphenoid wing dysplasia
A first degree relative with NF-1

o Clinical presentation varies according to manifestations, as it

could be with a simple skin lesion or with localising symptoms
depending on the location of neurofibromas
o Management:
Surgery/Radiotherapy depending on lesions present
MDT input for cognitive and learning difficulties
o NF-2 Mostly presents with hearing loss due to bilateral acoustic
neuromas compressing the vestibulocochlear nerve (CN 8)

Tuberous sclerosis complex (TSC) Sturge-Weber syndrome (SWS)

An Autosomal Dominant, TSC 1 o A sporadic disorder

or 2 gene mutations
Ash-leaf spots: hypopigmented
Shagreen patches: rough skin
Angiofibromas: butterfly
distribution on face
Brain lesions: subependymal
nodules, SEGA
Commonly presents with seizures
and 50% have autism (ASD)
Management: seizure control,
surgery for tumours, and MDT for
cognitive difficulties
o Port-wine stain (facial
haemangioma) in the
trigeminal distribution
o Ipsilateral leptomeningeal
angioma and calcifications
(tram-track appearance on
MRI)
o Contralateral hemiplegia
o Seizures
o Management: Similar to TSC
+ laser therapy for the Port-
wine stain

39
 Infections in Paediatrics

Measles:
o Prodromal symptoms of fever, cough and conjunctivitis
o Then Koplik spots (white lesions) appear inside cheeks
o Maculopapular rash starts behind ears and spreads to torso,
disease stops being infectious at day 5 of rash
o Complications: pneumonia, encephalitis, SSPE (rare)
Mumps:
o Fever, malaise, and parotitis (swelling and tenderness, mostly
bilateral), disease stops being infectious at day 7 of parotitis
o Complications: encephalitis, meningitis, orchitis (infertility)
Rubella:
o Prodromal symptoms of fever and headache
o Then erythematous macular rash starts on face and spreads, with
positive posterior auricular lymphadenopathy
o Complications: encephalitis, arthritis, if pregnant: congenital
rubella syndrome
MMR are all preventable with the MMR vaccine, and if children were
infected, they should be isolated especially from pregnant women and
managed conservatively

Chickenpox:
o Caused by VZV
o Fever and widespread vesicular rash which crusts after a few days,
disease stops being infectious at day 7 of rash
o Complications: bacterial superinfection and VZV pneumonia
o Managed conservatively with isolation

Fifth disease (Erythema infectiosum/slapped cheeks):

o Caused by Parvovirus B19
o Prodromal period of fever, then erythematous macular rash on
cheeks (slapped cheeks appearance) which spreads to arms and
extensor surfaces
o Managed conservatively with isolation
o Complications: Aplastic crises in sickle-cell disease, and fetal
hydrops in pregnancy

40
Sixth disease (Roseola infantum):
o Caused by HHV-6
o Fever, pharyngitis and lymphadenopathy
o Rose pink macular rash appearing at the end of the illness
o Complications: may occasionally cause febrile seizures

Hand foot and mouth disease:

o Caused by Coxsackie A16 virus
o Sore throat and dysphagia
o Vesicles in mouth, hands and feet
o Lasts only 7 days and doesn t require treatment

Scarlet Fever:
o Caused by Step. pyogenes (Group A Strep.) in children 2 10 years
old
o High fever, sore throat, and widespread erythematous rash with
red cheeks and perioral sparing
o Strawberry tongue (same as Kawasaki disease)
o Tx: Penicillin V for 10 days
o Complications: Rheumatic fever, pneumonia, meningitis

41
 Aneuploidy

Trisomy 21 (Down s syndrome):

o Incidence increases with maternal age:
1 in 1000 at 20 years
1 in 20 at 45 years
Overall risk of 1 in 650
o Antenatal screening:
First trimester combined screening with NiPT:
Maternal age
Serum markers: Inc. B-hCG & Dec. PAPP-A
Ultrasound finding: Nuchal translucency
Definite diagnosis requires amniocentesis or chorionic
villous sampling (CVS) for karyotyping
o Congenital features:
Craniofacial dysmorphology: round face, flat nasal bridge,
epicanthic folds, brushfield spots, protruding tongue, low
set of ears, short neck, flat occiput and a third fontanelle
Hypotonic infant
Single palmar creases & toes sandal gap
CHD: Atrioventricular septal defect (in 40%)
GI defects: duodenal atresia, Hirschsprung s disease
o Chronic features:
Delayed motor milestones
Learning difficulties: IQ <70
Hearing and visual impairments
Short stature
Predisposed to:
Leukaemia
Epilepsy
Early-onset Alzheimer s
Hip dislocation and atlanto-axial dislocation
o MDT approach of management + treatment of conditions
o It is the most common inherited cause of learning difficulties,
followed by fragile x syndrome.
o Q. A young couple arrives for counselling due to all of their 3
children having trisomy 21. What is the most likely explanation?
One of the parents is likely to carry a 21:21 translocation,
and each child receives 2 copies from one parent and a
third copy from the other parent. 100% chance

42
Disorder Trisomy 18 (Edward s Trisomy 13 (Patau s
syndrome) syndrome)
Risk 1 in 3000 1 in 5000

Ultrasound Strawberry-shaped Holoprosencephaly

features head Microcephaly
Hydrocephalus Cleft lip and palate
Choroid plexus cysts Omphalocele
NTDs Polydactyly
Micrognathia CHD
IUGR
CHD
Both are confirmed prenatally with amniocentesis or CVS for karyotyping
and both are fatal foetal disorders

Klinefelter s syndrome (47 XXY):

o 1 in 2000
o Features
Tall male
Gynaecomastia and sparse facial hair
Small testicles (hypogonadism) resulting in infertility
Most cases have a normal IQ but some experience
psychological problems
o Predisposed to endocrine and psychiatric disorders.

Turner s syndrome (45 X):

o 1 in 3000 live births (>95% are miscarried)
o Antenatal scan: streak ovaries, cystic hygroma, oedema
o Clinical features:
Always short (absent SHOX gene) & infertile
CHD: Co-arctation of the aorta
Webbed neck, widely spaced nipples, and broad shoulders
Delayed puberty: due to ovarian dysgenesis
Normal IQ
o Management: MDT
HRT to induce puberty
Growth hormone for height
IVF for pregnancy

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 DiGeorge syndrome
A disorder caused by chromosomal deletion at 22q11.2, also called the
velocardiofacial syndrome
Characteristic features: CATCH-22
o Cardiac anomalies: Tetralogy of Fallot
o Abnormal facies: hypertelorism, antimongoloid slant
o Thymic hypoplasia
o Cleft lip or palate
o Hypocalcaemia: from an underdeveloped parathyroid gland
o 22q11.2 deletion
Presentation:
o Neonate: congenital abnormalities (cleft, tetralogy)
o Later:
Hypocalcaemic seizures
Severe infections (thymic hypoplasia results in SCID)
Learning difficulties
o Schizophrenia/schizoaffective disorders are present in 25% of
cases

Definitive diagnostic criteria: 2 of 3

o 22q11.2 deletion on microarray CGH
o >3 weeks of hypocalcaemia
o Low T-cell count

Management:
o Surgical correction of any present defect
o Calcium supplements
o Vaccination (live vaccines are contra-indicated)
o Consider thymic or bone marrow transplants

Williams syndrome:
o A disorder caused by 7q11 deletion
o Features:
Dysmorphic features and mental retardation
Overfriendliness
CHD: Supravalvular aortic stenosis
Hypertension and hypercalcaemia

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 Prader-Willi syndrome

A genetic disorder caused by a 15q11.2 deletion inherited from the

father (paternal genetic imprinting)
Clinical features:
o Hallmark: Profoundly hypotonic neonate
o Infant: poor sucking reflex and poor feeding
o Toddlers 1-6 years old:
Developmental delay
Compulsive hyperphagia leading to obesity (can t eat early
in life and can t stop eating later on)
Short stature
Diagnosis:
o DNA methylation analysis (NOT microarray/FISH/ or karyotyping
due to the implication of the genetic imprinting process)
Management:
o Psychosocial management of developmental delay
o Dietician input: most advice to LOCK food

Genetic imprinting explanation:

o It means that the same genetic karyotype (e.g. 15q11.2 deletion)
could have different phenotypes depending on which parent the
gene was inherited from
o In the case of 15q11.2 deletion, if the defective gene was
inherited from the father it is called Prader-Willi Syndrome
o If the defective gene was inherited from the mother it is called
Angelman syndrome

Angelman syndrome: also 15q11.2 deletion

o Also called the happy-puppet syndrome , because the child is
always laughing inappropriately
o Other features: developmental delay, ataxia, severe speech
impairment

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 Fragile X syndrome

An X-linked Dominant disorder due to a mutation in the FMR1 gene

Pathogenesis: this FMR1 genetic mutation is caused by unstable

expansions of the trinucleotide sequence CGG
o If the expansion was >200 repeats, it results in a complete loss
of function of FMR1, and the classical phenotype
o If the expansion was between 50-200 repeats, it results in an
active FMR1 with a different and a milder phenotype

Clinical features:
o Characteristic facial features:

Prominent forehead
Long
Large everted ears narrow
face
Prominent mandible

o Developmental delay and learning impairment

o Post-pubertal macroorchidism and macrocephaly
o Joint laxity
o Mitral valve prolapse
o Behaviour abnormalities: ADHD, ASD

50% of females affected with a full mutation express a phenotypical

features, but milder than those expressed in males

Diagnosis: PCR DNA analysis

Management: MDT
o Developmental intervention
o Speech and language
o Behavioural therapy
o Medical management of organic disease

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 Genetic disorders inheritance patterns

Autosomal Dominant: Autosomal Recessive:

o Neurocutaneous syndromes: o Cystic fibrosis

NF, TSC, SW
o Osteogenesis imperfecta
o Achondroplasia
o Hereditary spherocytosis
o von-Willebrand disease (vWD)
o Von Hippel-Lindau syndrome
o Otosclerosis
o Huntington disease
o Noonan s syndrome
o Sickle-cell disease
o B-thalassaemia
o Spinal muscular atrophy
o Primary ciliary dyskinesia (PCD)
o Tay-Sachs disease
o Galactosaemia
o Phenylketonuria
o MPS 1 (Hurler s)

X-linked Dominant: X-linked Recessive:

o Fragile X syndrome o Duchenne s muscular

o Hypophosphatemic rickets dystrophy
(vitamin-D resistant rickets) o G6PD deficiency
o Haemophilia
o MPS 2 (Hunter s)
o Lesch-Nyhan syndrome

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 Genetic mutations

Disorder Mutation/deletion

Cystic fibrosis

Congenital adrenal hyperplasia CYP21A2

Hereditary spherocytosis Spectrin

Ankyrin-1
Band-3

Duchenne muscular dystrophy Dystrophin gene

Spinal muscular atrophy SMN 1

WILMS tumour WT-1, p53, 11p15.5

Neuroblastoma MYCN
PHOX2B
AKL 1&11

Tuberous sclerosis complex TSC 1, TSC 2

Fragile X syndrome FMR 1

Turner s syndrome SHOX (short stature)

DiGeorge syndrome 22q11.2 deletion

Prader-Willi and Angelman 15q11.2 deletion

syndromes

Williams syndrome 7q11 deletion

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