Topics In This Section
Meconium Aspiration Syndrome
Persistent Pulmonary Hypertension of the Neonate
Respiratory Disterss Syndrome
Transient Tachypnoea of the Newborn
Enuresis - Noctural
Haemolytic Uremic Syndrome
Urinary Tract Infection
Infantile Spasms (West Syndrome)
Neurofibromatosis Type 1 and 2
Congenital Nasolacrimal Duct Obstruction
Neonatal Conjunctivitis (Ophthalmia Neonatorum)
Retinopathy of Prematurity
Developmental Dysplasia of the Hip
Slipped Capital Femoral Epiphysis
Juvenile Idiopathic Arthritis
Atrial Septal Defect
Coarctation of the Aorta
Congestive Heart Failure
Patent Ductus Arteriosus
Tetralogy of Fallot
Total Anomalous Pulmonary Venous Return
Transposition of the Great Vessels
Ventricular Septal Defect
Irritant Contact Dermatitis
Congenital Adrenal Hyperplasia
Diabetes Mellitus Type I
Malrotation of the Intestine
Duchenne Muscular Dystrophy
Haematology & Oncology
Acute Lymphocytic Leukaemia
Immune Thrombocytopenic Purpura
Acute Otitis Media
Pott's Puffy Tumour
Atrial septal defect
- Usually asymptomatic
- May have history of recurrent chest infections
- Development of arrhythmias from 4th decade onwards
- Ejection systolic murmur best herd at upper left sternal edge
- Fixed and widely split S2
- Diagnostic: Echocardiogram
- Supportive: Chest X-ray showing cardiomegaly, increased pulmonary markings and enlarged pulmonary vessels. ECG showing Right bundle branch block, right axis deviation CXR
- Treatment indicated in the presence of right ventricle dilatation
- Interventional treatment depends on type of ASD, but involves either surgery or cardiac catheterization with insertion of an occlusive device.
Coarctation of the Aorta (Infant)
- Often asymptomatic at birth with normal routine examination
- Circulatory collapse at 2 days of age due to left heart outflow obstruction once duct had closed
- Collapse associated with severe heart failure, absent femoral pulses and severe metabolic acidosis.
- Diagnostic: Echocardiography
- Supportive: Chest X-ray showing cardiomegaly and normal ECG
- Key to early survival is maintaining ductal patency.
- Prostaglandin infusion should be commenced as soon as possible.
- Refer to cardiac center for surgical intervention
Coarctation of the aorta (Adult Type)
- History often asymptomatic
- Radial-femoral delay
- Evidence of continuous murmur at the back indicating presence of collaterals
- Ejection systolic murmur at upper sternal edge
- Systemic hypertension in right arm
- Diagnostic: Echocardiogram or MRI
- Supportive: X-ray showing rib notching and “3” sign. ECG associated with left ventricular hypertrophy.
- Intervention depends on severity as assessed by echocardiography.
- Severe cases may be treated with stent or surgical repair.
Congestive heart failure
- Poor feeding
- Recurrent chest infections
- Signs – heart murmur, displaced apex, hepatomegaly, cool peripheries, tachypnea, tachycardia, poor weight gain.
- Must determine underlying cause
- Initial: ECG and Chest X-ray
- Diagnostic: Echocardiogra
- Infants with heart failure should be urgently transferred to a major cardiac center.
- Initial priority is to stablised ABC and offer respiratory and circulatory support.
- Frusemide is the diuretic of choice and often used in combination with a potassium-sparing diuretic.
- Goal of management is to treat underlying cause. Heart failure due to congenital heart disease may benefit from infusion of prostaglandin E1.
Patent ductus arteriosus
- May have no symptoms
- Associated with apnoea, bradycardia, increased oxygen demand, murmur
- Bounding pulses due to increased pulse pressure
- Heart failure becomes evident with increasing circulatory overload
- Initial: ECG and CXR showing normal findings
- Diagnostic: Echocardiogram
- Consider closure with prostaglandin synthetase inhibitor (such as indomethacin) if infant is symptomatic.
- Surgical ligation is indicated if medical treatment fails
Tetralogy of Fallot
- Most common cyanotic congenital heart disease
- Loud harsh systolic murmur in first 2 months of life
- Severe cyanosis, hypercyanotic “tet” spells and squatting on exercise
- Initial: ECG with right ventricular hypertrophy, CXR showing “boot” shaped heart
- Diagnostic: Echocardiogram and catheterization showing:
- 1) Large VSD
- 2) Overriding of the aorta
- 3) Right ventricular outflow obstruction associated with subpulmonary stenosis
- 4) Right ventricular hypertrophy
- Symptoms are initially controlled with medication.
- Hypercyanotic “Tet” spells persisting beyond 15 minutes can be managed with sedation, pain relief, intravenous propanolol, and IV volume administration.
- Definitive surgery is indicated at around 6 months of age
- Infants with severe cyanosis in neonatal period will benefit from Blalock-Taussig shunt to increase pulmonary blood flow.
Total anomalous pulmonary venous return (TAPVR)
- Cyanosis in first days of life
- Rapid or labored breathing
- Cool, clammy skin
- Lethargy and poor feeding
- Initial: ECG shows significant right ventricular hypertrophy and chest x-ray revealing diffuse reticular pattern
- Diagnostic: Echocardiogram or cardiac catherterization
- Definitive treatment is surgical repair to reconnect pulmonary veins to left atrium.
- Specific medical treatment (e.g. whether to give prostaglandin E1) depends on type of pulmonary venous connection.
Transposition of the great vessels
- Cyanosis, evident most prominently on day 2 of life
- Cyanosis is delayed and less severe in the presence of an ASD
- Associated with loud and single second heart sound
- Usually no murmur is evident
- Initial: CXR showing “egg-on-side silhouette.” ESG is usually normal.
- Diagnostic: Echocardiogram demonstrating abnormal arterial connections and abnormalities.
- In the acute setting, it is important to maintain patency of the ductus arteriosus with PGE1 infusion. Balloon atrial septostomy may need to be performed as life-saving procedure.
- Definitive surgery to repair transposition is usually performed in first few days of life.
- Early cyanosis at birth
- Systolic murmur along left sternal border
- Initial: ECG showing left axis deviation, right atrial hypertrophy, left ventricular hypertrophy and right ventricular hypoplasia.
- Diagnostic: Echocardiogram
- Treatment for tricuspid atresia is initially palliative, followed by corrective therapy.
- Early palliative measures can be achieved via Blalock-Taussig shunt insertion.
- Corrective surgery (Glenn or hemi-Fontan operation) is indicated after 6 months of age.
- Mild or absent cyanosis at birth
- Congestive heart failure
- Presence of Systolic murmur +/- diastolic murmur
- Diagnostic: Echocardiogram
- Chest X-ray and ECG findings are normally nonspecific
- Surgical correction is the only effective treatment. It should be performed in early infancy, preferably < 6 weeks from birth.
Ventricular septal defect
- Most common (30%) congenital heart defect
- Small VSD associated with loud, harsh, high pitched systolic murmur, best heard at left sternal border
- Large VSD associated with signs of heart failure, parasternal heave, displaced apex, and softer systolic mumur.
- Large shunts may have apical diastolic murmur, difficulty feeding and failure to thrive.
- Initial: ECG (biventricular hypertrophy), Chest X-ray (cardiomegaly and increased pulmonary vascular markings)
- Diagnostic: Echocardiogram
- Cardiac catheters may be performed to measure pulmonary vascular resistance
- Treat heart failure with diuretics
- Small defects (<3mm) often undergo spontaneous closure and can be observed.
- Closure of VSD is indicated if: Heart failure or failure to thrive is unresponsive to medical therapy; pulmonary hypertension is persistent, presence of aortic valve prolapse or infective endocarditis.
- Closure can be achieved via open-heart surgery or transcatheter techniques at 3-6 months of age.
- Family history of atopy
- Itchy erythematous rash with excoriation
- Weepy and crusted appearance
- Infants – affects mainly scalp and face
- Older children – affects skin flexures such as cubital and popliteal fossae
- Diagnostic: based on characteristic clinical features
- Supportive: Elevated total plasma IgE level
- Consider RAST test and skin prick if history suggests a particular allergic cause
- All parents should be advised to avoid irritants such as soap and biological detergents.
- Emollient is first line and works to soften and moisturize the skin
- Acute exacerbations can be managed with topical corticosteroids
- In cases where corticosteroids are contraindicated, immunomodulators such as tacrolimus or pimecrolimus may be indicated.
Irritant Napkin Dermatitis
- Most common napkin rash
- Well-demarcated erythematous macules and papules in genital area
- Affects skin in contact with wet napkin
- Sparing of flexures (skin folds)
- Diagnostic: Based on characteristic clinical features
- Skin swabs are useful to exclude fungal or bacterial cause
- Parents should be advised of general hygiene measures
- Mild cases can be treated with use of a protective emollient
- Irritating symptoms can be treated with a short course of mild topical steroid such as hydrocortisone
Candidal Napkin Dermatitis
- Erythematous plaques and papules
- Affects skin flexures
- May have satellite pustules
- Recent treatment with broad spectrum antibiotics
- Diagnostic: Microscopy and culture of skin swabs or skin scrapings
- Candida albicans is best treated with topical antifungal cream such as clotrimazole or ketoconazole.
- Common in areas of pre-existing skin disease (e.g. atopic eczema) or mild trauma
- Lesions are initially erythematous macules
- May develop into vesicular, pustular or bullous.
- Honey crusted appearance
- Diagnostic: Based on characteristic clinical features. Can be confirmed by visualization of gram positive cocci during microscopy of bacterial swab
- Supportive: CBE showing neutrophil leukocytosis if impetigo is widespread
- Skin biopsy is rarely necessary.
- Skin lesions should be initially cleaned using moist soaks
- Antiseptic (e.g. hydrogen peroxide, povidone iodine) or antibiotic ointment (e.g. mupirocin) is then applied to affected areas
- Consider oral antibitoics if impetigo is extensive.
- To prevent recurrence, consider treating carrier sites such as nostrils and washing daily with antibacterial soap.
- Clusters of small, round epidermal papules
- Colour may be white, pink or brown
- Papules appear and shiny with small central pit (Umbilicated)
- Common in moist places such as armpit, back of knees, groin or genital areas
- Sparing of palms or soles
- Frequently associated with surrounding dermatitis
- Diagnostic: Based on characteristic clinical features
- Lesion should be biopsied if diagnosis is uncertain
- Often, the disease is usually self-limiting and no specific treatment is necessary
- Physical treatment may include cryotherapy, curettage or laser ablation
- Medical treatment may include antiseptic such as hydrogen peroxide cream, podophyllotoxin cream or cantharidine solution.
- Itch worse at night – affects trunks and limbs, sparing the scalp
- Burrows (Grey irregular tracks) – often found in web spaces, palm and wrists
- Generalised rash – often follicular, erythematous papules
- Diagnostic – visualization of mite via dematoscopy, microscopic examination of skin scrapping or skin biopsy.
- First line treatment topical 5% permethrin cream, left on skin for 8-10 hours and applied from neck to soles of feet.
- In babies, treatment should include scalp and face (avoid eyes)
- Contacts and household items (such as bed linen, towels, clothing) must be identified and treated.
- Oral antibiotics is indicated for secondary scabies
Infantile Seborrheic dermatitis
- Typically present in first 2 months of life
- Erythematous scaly eruption on scalp
- Cradle cap appearance – thick yellow adherent layer
- Can involve face, axillae and napkin area
- Not itchy and child is unperturbed
- Diagnostic: Based on characteristic clinical features
- Mild cases are generally responsive to emollients
- Treat scalp scales with sulphur and salicylic acid ointment.
- Consider mild topical corticosteroid in widespread body eruption.
- Can be acute or chronic
- Acute typically present as itchy inflamed erythematous patches
- Chronic tends to appear in body folds
- Associated with round/oval red scaly patches
- Diagnostic: Confirmed via microscopy and culture of skin scrapings
- Lesion should be biopsied if diagnosis is uncertain
- First line therapy is topical antifunga
- Consider oral antifungal (e.g. terbinafine, itraconazole) if topical therapy fails
Congenital adrenal hyperplasia
- Males typically present with salt loss, or tall stature and precocious puberty
- Females typically present with virilisation of external genitalia, highlighted by clitoral hypertrophy and variable fusion of the labia.
- Salt losers can present with adrenal crisis, usually occurring at 1-3 weeks of age
- No-salt losers can have tall stature, muscular build, adult body odour, pubic hair and acne from excess androgen production.
- Diagnostic: Raised serum 17 alpha-hydroxyprogesterone (diagnostic for 21-OH deficiency)
- Supportive: biochemical abnormality of hyponatraemia and hyperkalaemia, metabolic acidosis and hypoglycaemia in salt losers
- Follow-up: Monitoring of growth, skeletal maturity and plasma androgen and 17 alpha-hydroxyprogesterone levels.
- Acute presentation of adrenal crises requires urgent treatment to correct abnormalities in fluids, electrolytes or serum glucose.
- Long term treatment is centered on glucocorticoids and mineralocorticoids (if there is salt loss) replacement
- Affected females may require corrective surgery to external genitalia
- Consider additional hormone replacement in the event of illness/surgery.
- Maternal thyrotoxicosis
- Irritability, poor weight gain, tachycardia, arrhythmias, hypertension
- Goitre, exomphalmos, jaundice, flushing, hepatosplenomegaly
- Presentation may be delayed (to day 8-9) if mother has been taking antithyroid medications.
- Diagnostic: TFT showing raised T4/T3 and low TSH
- Symptoms can be initially controlled with beta-blockade or digoxin
- Definitive treatment requires antithyroid medication (carbimazole, methimazole)
- Medication may continue for a period of up to 12 weeks to clear all thyroid-stimulating antibodies.
- Usually asymptomatic in first month of life
- May be associated with prolonged jaundice, constipation, pale skin, coarse facies, large tongue, hoarse cry, umbilicated hernia
- Developmental delay
- Failure to thrive
- Diagnostic: Raised TSH on Guthrie test.
- Follow-up: TSH at 6 weeks to determine appropriate individual dosage of thyroxine.
- Lifelong thyroxine replacement should be started at 2-3 weeks of age to prevent learning difficulties.
Diabetes mellitus type 1
- Typically present in preschool or teenage years
- Classic triad of polyuria, excessive thirst and weight loss
- May be associated with enuresis, skin sepsis, candida infection
- Ketoacidosis – vomiting, dehydration, hyperventilation, acetone breath
- Diagnostic: Glucose tolerance test (though this is rarely required in children). Diabetes Mellitus is usually confirmed by raised random blood glucose (>11.1 mmol/L) and urine dipstick positive for glucose and ketones in a symptomatic child.
- Supportive: Fasting blood glucose (>7 mmol/L) or raised HbA1C.
- Patients presenting with DKA must be managed promptly with fluids, insulin and potassium.
- Stable patients will require subcutaneous or continuous infusion insulin long term.
- All patients should be given intensive educational programme regarding basic understanding of diabetes, injection of insulin, diet, insulin adjustment, sick day rules, recognition/treatment of hypoglycemia and BGL monitoring.
- Failure to thrive
- Cranitabes – Ping-Pong ball sensation of the skull
- Expansion of metaphyses in wrist and ankles
- Bowing of weight-bearing bones
- Horizontal depression on the lower chest
- Harrison Sulcus – indentation of the softened lower ribcage
- Diagnostic: Low/normal serum calcium, low serum phosphorus, increased plasma ALP, elevated parathyroid hormone, low 25-hydroxyvitamin D.
- X-ray of wrist joint showing widened epiphyseal plate with cupping and fraying of the metaphyses.
- It is important to address the underlying cause.
- Nutritional rickets can be managed with vitamin D supplements (Cholecalciferol).
- Advise about balanced diet and correction of predisposing risk factors
- Decreased frequency of defecation
- Painful defecation
- Increased hardness of stool
- Abdominal pain
- Overflow soiling
- Palpable abdominal mass in well looking child
- Diagnostic: Based on clinical features (important to rule out underlying pathology such as Hirchsprung disease, hypothyroidism, anorectal abnormalities)
- Digital rectal exam is not routinely performed and only considered if a pathological cause is suspected.
- First line treatment is an escalating dose regimen of stool softener (such as polyethylene glycol) for 2 weeks to resolve impaction.
- If above is unsuccessful, consider adding stimulant laxative (such as senna) +/- osmotic laxative (e.g. lactulose)
- If above is unsuccessful, consider enema or manual evacuation as last resort.
- Once bowel habit has improved on laxatives, it is important to dose adjust and gradually reduce over 6 months.
- Balanced diet and sufficient fluid intake are indicated in all patients.
- Diagnostic: Clinical diagnosis. May have elevated urea and creatinine
- Various sources will quote different figures. Below are an interpretation of RCH guidelines.
- Mild volume loss (less than 4%) – increased thirst
- Moderate volume loss (4-6%) – delayed capillary refill, changes to respiration (deeper), increased respiratory rate
- Severe volume loss (> or equal 7%) – delayed capillary refill >3s, cool and mottled peripheries, signs of shock, deep breathing with increased respiratory rate
- Initial: If: signs of shock, then correct with boluses of 10-20 mL/kg normal saline. If: 2 of these boluses do not improve signs of shock, then: consult for vasopressor/inotropic support.
- Best: Over the next 24 hours replace deficit via oral or NG fluids (calculated by % weight lost or, generally, via clinical signs) + maintenance requirements (4, 2, 1 rule) + ongoing losses (kept track of with fluid balance chart + weight monitoring)
- Small volume of non-bilious vomiting after feeding and irritability
- Usually self resolving and a physiological process
- Incidence peaks at 4 months’ age - 67%. By 12 months only 5% of children have GOR.
- GORD is GOR that leads to complications (oesophagitis, failure to thrive, aspiration)
- If thriving baby and symptoms <18 months in duration. no investigations are required
- Symptoms >18 months OR FTT, feeding aversion, recurrent cough/pneumonia/bronchospasm should be worked up with barium swallow, endoscopy, pH probe (uncommon that Ix required)
- Conservative: Thickened feeds, smaller and more frequent feeds
- Medical: Short term parenteral feeding to improve weight gain. PPI is used to decreased oesophageal irritation. Metoclopramide use is reserved for children with gastroparesis.
- If symptoms are ongoing despite medical therapy surgical intervention is necessary (Nissen fundoplication)
- Failure of meconium to pass spontaneously within 48 hours of birth
- Symptoms of bowel obstruction (bilious vomiting, distension, constipation, FTT) presenting usually at 3-4 days since birth
- Initial: Barium enema
- In an atypical presentation or older child anorectal manometery is preferred
- Diagnostic: Rectal biopsy demonstrating aganglionosis
- Surgical: Single stage pull through procedure involving excision of aganglionic segment and anastomosing gangiolionated bowel to anus.
- Low lesions: rectum continues beyond pelvic levator ani musculature. Often have fistulous communication with skin.
- High lesions: rectum stops at or above the pelvic levator ani musculature. More complicated in general. In males, the rectum will communicate with the urinary tract via a fistula. In females, the rectum will communicate with the vestibule or vagina.
- Diagnostic: Extensive imaging to determine the relationship of the rectum and anus.
- Workup: Urine MC&S for rectourinary fistula. Imaging studies include: sacral radiography, US and MRI.
- Nil by mouth and IV hydration. If a fistula is suspected, used broad spectrum antibiotics.
- Surgery repair is the definitive treatment.
- Intermittent swelling overlying the external inguinal ring, or within scrotum that occurs during crying or straining
- May or may not be associated with pain or discomfort
- Strangulation most often occurs at 6 months, and means the lump is not reducible
- Incarcerated hernia will demonstrate a tense, tender swelling at the external inguinal ring. After 12 hours of onset, there may be generalised abdominal pain, vomiting, abdominal distension and constipation due to complete intestinal obstruction.
- Redness and induration over the lump is a serious sign suggesting of bowel ischaemia
- Diagnostic: clinical diagnosis (can be confirmed with US)
- Incarcerated hernia: emergency surgical correction.
- If non-urgent: timely referral to surgeon (within 2 days)
- Triad of abdominal pain, palpable mass and red currant jelly stools
- Often preceeding history of URTI
- Shock and dehydration depending on severity
- Occurs between 3 and 18 months age
- Initial: AXR (for bowel obstruction/perforation), US (target sign)
- Diagnostic: Air contrast barium enema (will demonstrate position and apex of intussusception
- Initial (in this order): (1) IV fluid resuscitation, (2) analgesia, (3) IV antibiotics (cefazolin/metronidazole).
- (4) Best:
- If the patient is unstable or signs of peritonism are present, the surgical reduction and resection is required. Enema reduction is contraindicated.
- If the patient is stable with no signs of peritonism, then:
- 1st line: air/saline contrast enema (80% – 90%) success
- 2nd line: surgical reduction and resection
- Chronic, watery diarrhoea, abdominal pain and bloating that is associated with dairy intake
- Initial: Trial of lactose-free diet
- Best: Positive breath hydrogen test if >6 years old
- Lactose-free diet, soy formula
- Lactase-containing tablets/capsules/drops
Malrotation of the intestine
- Bilious emesis
- In the setting of bilious emesis with abdominal distension a volvulus must be ruled out with surgical exploration.
- Abdominal distension and passage of blood through the rectum is a late feature and suggests gut ischaemia.
- Initial: Abdo XR demonstrating small bowel obstruction or intestinal wall thickening
- Diagnostic: Urgent upper GI contrast study that demonstrates contrast spiralling in twisted gut
- Initial/Best: NG tube, IV antibiotics, fluid resuscitation, emergent laparotomy to untwist the volvulus.
- The malrotation is then corrected by the Ladd procedure.
- Occurs in 2% of the population
- Most commonly asymptomatic
- Complications are caused by obstruction, inflammation, haemorrhage or umbilical fistula
- The definitive investigation is surgery
- Ultrasound may be helpful in diagnosis
- For GI bleeding suggestive of Meckle’s divertulum, a 99m technetium pertechnetate scan can be used (90% accurate)
- Simple diverticulectomy
- Consider IV therapy, NGT decompression
- Incidental diverticulum is resected if there is: narrow base, long diverticulum, presence of fibrous band, palpable nodularity or thickness or young patient
- More common in males, presents often at 6-8 weeks
- Projectile non-bilious vomiting after feeds
- This is a clinic diagnosis by palpation of thickened pylorus (size of olive) in midline in epigastrium between rectum abdominis muscles
- Visible left-right gastric contraction waves after meal from left costal margin to right hypochondrium
- Dehydration due to vomiting
- Initial/Diagnostic: Abdominal US (shows hypertrophic pylorus). Serum electrolytes will demonstrate hypochloremic hypokalaemic metabolic alkalosis.
- If the abdominal US is non-diagnostic or unavailable, an upper GI barium study is the alternative (delayed gastric emptying and narrow pyloric canal)
- Initial: correct dehydration and acid-base/dehydration
- Best: Pyloromyotomy
- 4-6 bowel motions per day that may contain undigested food
- Excess fruit juice intake can cause this, thriving child
- Diagnosis of exclusion. Usually starts between 6-36months and ceases 2-4 years.
- Initial: Reassurance that it is self limiting
- Best: Fibre, normal fluids, 35-40% fat, discourage fruit juice
- Neonates may present with meconium ileus, prolonged jaundice and antenatal bowel perforation
- Infants may present with pancreatic insufficiency, FFT due to malabsorption and anaemia
- Children may present with heal intolerance, chronic cough, recurrent chest infection, clubbing
- Old patients can present with psuedomonas pneumonia and infertility
- This is looked for in newborn screening by high serum trypsinogen levels (misses 5%)
- Diagnostic: sweat chloride test (increased chloride in sweat) or genetic tests performed at 6 – 10 weeks age
- Respiratory: Chest physiotherapy, mucolytics, infection control, bronchodilators, antibiotics (in setting of pseudomonas, use azithromycin + tobramycin)
- GI: Pancreatic enzyme replacement and high calorie diet
Duchenne muscular dystrophy
- Often presents between 18 months and 4 years age with delayed walking as first complaint. X linked recessive disorder.
- Proximal muscle weakness is the key feature, Gower’s sign (using arms and hands to “climb-up” body from sit to stand), waddling gait, toe walking
- Calf pseudohypertrophy
- In second decade of life there is generally a decline in respiratory function, cardiomyopathy, and scoliosis.
- Initial: Increased CK and LDH, family pedigree
- Diagnostic: Genetic molecular studies of dystrophin gene (DMD) and muscle biopsy
- No cure for this disease
- Supportive care: physiotherapy, wheelchair (most are dependent by 8 – 13 years age)
- Cardiac health monitoring. ACE inhibitors can slow down development of cardiomyopathy
- Oral steroids may assist with fatiguability and muscle strength
- Non invasive ventilator support
- Surgery for possible scoliosis
- Life expectancy is 30s to 40s
- Often presents around day 7 of life with feeding difficulty, jaundice, lethargy irritability
- Complications: Liver/renal failure, FTT, cataracts, seizures
- High mortality (75%) if untreated
- Part of newborn screening, positive screen is followed up by quantitative GALT analysis
- Best: Eliminate galactose from diet (e.g. dairy, breast milk)
- Downwards dislocation of lens (ectopia lentis)
- Marfanoid habitus
- Mental retardation
- Signs/symptoms of stroke
- Orthopaedic deformity
- Initial: Cyanide-nitroprusside test on urine (purple)
- Diagnostic: Homocysteine levels in blood and urine (sample must be handled in a specific way, ice and spun within 1 hour)
- Pyridoxine supplementation (works for 50% of pts)
- Folate supplementation
- Consider secondary prevention for stroke (eg aspirin)
- Baby that is normal at birth but develops musty odor, eczema, hypertonia and mental retardation
- May appear hypopigmented with fair hair and blue eyes
- Diagnostic: Generally picked up on heel prick test at birth. Prior to that it wasn’t picked up until presentation during childhood with mental retardation.
- Dietary restriction of phenylalanine (within 10 days of birth)
Haematology and oncology
Acute lymphocytic leukaemia
- Often 3-4 week prodrome of pallor, bruising, lethargy, feversor bony tenderness.
- Physical examination may show pallor (80%), petechial (50%), lymphadenopathy (35%) or splenomegaly (50-60%)
- Initial: CBE with peripheral blood film (blast cells, with no aeur rods). WCC will often be raised.
- Diagnostic: Bone marrow biopsy demonstrating leukaemic cells
- Lumbar puncture is considered for staging purposes.
- Combination chemotherapy is 80% successful
- Chemotherapy: Induction, consolidation and maintenance chemotherapy and CNS prophylaxis (intrathecal methotrexate).
- Tyrosine kinase inhibitor (if BCR-ABL positive).
- Fluid therapy and allopurinol.
- Prophylactic anti-microbials or broad-spectrum antibiotics if febrile.
- RBC and platelet transfusion.
- Beta thalassaemia major: both alleles of beta gene defective resulting in severe anaemia and jaundice. Often present at 3 – 12 months with pallor and hepatosplenomegaly. Untreated this condition can lead to growth retardation, poor musculoskeletal development and skin pigmentation due to increased iron absorption.
- Beta thalassaemia inermedia: clinical symptoms between major and minor subtypes.
- Beta thalassaemia minor: defect of single allele, usually not symptomatic. May have mild anaemia detected during investigation or through family screening.
- Initial: CBE
- Diagnostic: Hemoglobin electrophoresis
- Beta thalassaemia major: Chronic hypertransfusion therapy and iron chelation every 3 – 4 weeks. Chelation therapy must accompany transfusions to prevent iron toxicity.
- Beta thalassaemia intermedia: Monitor for development of complications. Commence transfusions if complications develop. Folic acid and hydroxyurea may help.
- Beta thalassaemia minor (trait): Generally no treatment required. May require transfusions in pregnancy.
- Second most common bone cancer (10-15% of primary) affecting peak age group between 15 and 19 years old.
- Most often appears at diaphysis of femur followed by tibia and humerus
- Metastasises frequently
- May presents with local pain, palpable mass, pathological fracture and swelling with constitutional symptoms
- Plain XR: involves diaphysis of long bones (compared to metaphysis in osteosarcoma).
- Onion skin periosteal reaction with elevation “Codman’s Triangle” (different to sunburst pattern for osteosarcoma)
- Diagnostic: Bone biopsy
- Bloods may mimic an infection (anaemia, raised WBC/ESR/LDH)
- Local resection, chemotherapy, radiotherapy
Immune thrombocytopenic purpura
- Preceding 1-3 week history of viral illness (URTI)
- Sudden onset of petechiae, bruising or epistaxis in an otherwise well child
- Initial: CBE demonstrating low platelets with normal RBC/WBC
- Diagnostic: Bone marrow biopsy only required if there are features of a malignancy that you need to rule out (eg if hepatosplenomegaly or lymphadenopathy)
- Often spontaneous recovery within 3 months (70%) and no medication required
- In circumstances of mucosal/internal bleeding, platelets <10 or risk of significant bleed, then oral prednisolone (sometimes IVIG) is needed.
- For life threatening bleeds do platelet transfusion
In general avoid contact sports and NSAIDs
- If no response after >6 months consider splenectomy
- Depending on location of tumour (adrenal most common)
- Affects children <1 years old
- Thoracic: dyspnoea, Horner’s syndrome
- Abdomen: palpable mass
- Spinal cord compression
- Paraneoplastic syndrome: hypertension, sweating, palpitations
- Commonly presents with metastases (often bone/bone marrow, lymph nodes and liver)
- Initial: abdominal CT/MRI
- Diagnostic: Elevated 24 hour urine catecholamine by-products (HVA and VMA) and aspirate analysis of bone marrow demonstrating metastasis (rosettes) OR cells found on tumour biopsy.
- Staging: CXR for paravertebral/mediatinal involvement, bone scan, MIBG scan for active metastases
- Best: Local excision and chemoradiotherapy
Wilm’s tumour (nephroblastoma)
- Usually asymptomatic, presents on exam with smooth mass in the loin that seldom crosses the midline
- Can have hypertension, gross haematuria, abdominal pain, vomiting
- Abdominal ultrasound.
- For large/complex tumours, or if needle biopsy guidance is required, abdominal CT is preferred.
Treatment: Nephrectomy +/- chemoradiotherapy in higher stages
- Good prognosis with adequate treatment
- Rapid onset and progression of symptoms
- Life threatening compromise of airways, breathing and circulation
- Skin involvement: erythema, urticaria, angioedema
- Respiratory: rhinorrhoea, wheeze, stridor, respiratory distress
- Cardiovascular: hypotension, possible loss of consciousness
- Initial/Best: clinical diagnosis
- If: unclear serum tryptase may be used
- Remove trigger
- Send for help
- Airway: check
- Give 100% oxygen
- Give IM adrenaline. Dose: 0.01 mg/kg to maximum of 0.5mg. Repeat every 5 mins as necessary.
- If: weight unknown. Then:
- If: child < 6 yo. Then: 0.15mg
- If: child >6 yo. Then: 0.3mg
- Gain IV access. IV fluid bolus (20mL/kg)
- Observe in hospital for at least 4 hours
- May require ICU
- Consider corticosteroids and antihistamines as second line therapy
- If: bronchospasm.
- Then: nebulised adrenaline or nebulised salbutamol
- Education, write anaphylaxis action plan and provide epipen
- Consider desensitisation therapy
- Avoid triggers.
- RAST test to identify triggers (theoretically skin prick could also be used but that carries risk of further anaphylaxis)
Acute otitis media
See Surgery → ENT
- Should be a diagnosis of exclusion
- Vomiting, dehydration, watery diarrhoea
- Clinical diagnosis
- Can send stool samples for MCS also for ova, cysts and parasites (OCP)
- Supportive care, usually a plan for rehydration and nutritional support
- See dehydration chapter for detailed assessment and management
- Infants are non-specific: fever, lethargy, bulging anterior fontanelle, toxic, respiratory distress, petechial rash, jaundice
- Children (>3): fever, headache, photophobia, neck pain, nuchal rigidity, Kernig’s sign, Brudzinski’s sign, petechial/purpuric rash, convulsions
Investigation & treatment:
- Slightly different to adult protocol → No head CT is required
- Blood cultures. Then:
- If: no contraindications to LP. Then: LP followed by:
- < 2 mo: cefotaxime + amoxycillin
- If: contraindications to LP. Then proceed to management:
- > 2 mo: ceftriaxone + dexamethasone
- < 2 mo: cefotaxime + amoxycillin
- > 2 mo: ceftriaxone + dexamethasone
- ICU management may be necessary
- If: no contraindications to LP. Then: LP followed by:
- Non-specific prodrome of fever, headache, malaise and myalgia
- 48 hour history of bilateral parotid swelling secondary to parotiditis
- Many presentations may not cause apparent parotid gland swelling and presents as URTI
- May be complicated by viral meningitis or encephalitis.
- Preventable by vaccinations
- Generally clinical diagnosis
- Diagnostic: Can be confirmed with raised IgM <4 weeks from diagnosis. Can also be done with PCR on various body fluids
- Supportive care
- If meningitis or pancreatitis are present hospital admission is necessary
- Droplet precautions until 5 days after beginning of parotid swelling
- Red, painful eye with decreased acuity
- Headache, fever
- Lid erythema, oedema
- Conjunctival injection and chemosis
- Proptosis, ophthalmoplegia
- RAPD if optic nerve has been compressed
- Initial: CBE, ESR
- Essentially clinical diagnosis. However, confirm with urgent head CT (also allows for identification of abscesses)
- Best: IV ceftriaxone + flucloxacillin. Surgical consultation for possible drainage of abscess.
Peritonsillar abscess (Quinsy)
- Severe sore throat, dysphagia, odynophagia, ‘hot potato voice’
- Extensive peritonsillar swelling
- Uvular deviation
- Generally unilateral
- Develops following acute tonsillitis
Investigation & Treatment:
- Ensure airway is secure
- Diagnostic: Usually clinical diagnosis. Needle aspiration of purulent material is diagnostic.
- Incision and drainage +/- tonsillectomy AND benzylpenicillin + metronidazole
- Culture and sensitivity of drained fluids
Pott’s puffy tumour
- Subperiosteal abscess with soft tissue swelling and pitting oedema over the frontal bone
- Can be a complication of frontal sinusitis or trauma/surgery
- Diagnostic: Head CT. MRI can demonstrate intracranial involvement not easily seen in CT
- Best: Incision and drainage and IV antibiotics (6-8 weeks)
- Sore throat, fever, neck stiffness, odynophagia, cough
- Cervical adenopathy, retropharyngeal bulge
Investigation & treatment:
- Initial: assess patency of airway. If airway compromise is present, intubation is necessary
- Diagnostic: Lateral neck XR demonstrating swelling of retropharyngeal space. Then neck CT would be diagnostic (helps distinguish from cellulitis).
- Best: Aspiration OR Incision and drainage + antibiotics
- Respiratory distress, cyanosis within minutes of birth
- Hyperinflated chest, scaphoid abdomen
- Bowel sounds over side of affected chest
- Normally picked up on prenatal US
- Diagnostic: CXR demonstrating loops of bowel
- Transfer to tertiary surgical paediatric centre is recommended prior to birth
- (1) Intubate and get cardiorespiratory system stable. Orogastric tube with suction (prevent further lung compression)
- (2) Once stable, surgical repair (hernia reduction and closure of diaphragmatic defect)
- Sudden deterioration during resuscitation may suggest pneumothorax and will require drainage
- Obstruction occurs in neonatal period
- Bilious vomiting (if proximal to amuplla of Vater)
- Abdominal distension
- Absence bowel sounds
- 25-40% association with Down’s syndrome
- Abdominal XR (double bubble sign = stomach and dilated proximal duodenum).
- Gastric decompression &, IVT
- Definite surgical repair
- Many infants are asymptomatic, but may present with bradycardia, apnoea, changes in activity, loss of consciousness
- Often pccurs within 8 hours birth
- Presents of poor prognosis demonstrate: bulging fontanelle, acidosis, seizures and hypotension
- Severe cases will lead to hydrocephalus and cerebral palsy
- Diagnostic: Head US/MRI
- Initial/Best: Supportive care. Avoid fluctuations in BP. Follow-up with imaging.
- Large haemorrhage will require ventriculoperitoneal shunt placement
Meconium aspiration syndrome
- Presence of meconium in amniotic fluid or on body surface
- Birth asphyxia requiring resuscitation
- Diagnostic: CXR to assess extent of pathology (patchy atelectasis/infiltrates/hyperinflation)
- Depressed (hypotonia or bradycardia): intubation and suction required with resuscitation (oxygen and ventilatory support) Surfactant and inhaled nitric oxide is also given.
- Vigorous (HR >100, strong respirations AND good muscle tone): intubation and suction not immediately required.
- Distended abdomen
- Increased quantity of gastric aspirate/vomiting with bile staining
- Frank or occult blood in stool
- If complicated by peritonitis, will show anterior abdominal wall oedematous/red, with dilated veins and painful palpation.
- Often affects preterm infants
- Initial: Lab findings are non-specific (hyponatremia, metabolic acidosis)
- Diagnostic: Abdominal XR (pneumatosis intestinalis - pathognomic). Follow-up with serial abdo XR should be done every 6 hours. Assess for free air demonstrating perforation.
- Specimens of blood culture/ rectal swabs should be taken prior to antibiotics
- Supportive measures. NPO (7-10 days). Orograstric tube for gastric decompression. Correction of dehydration and metabolic disturbances. TPN. IV antibiotics.
- If perforation/necrosis is suggested clinical signs are worsening despite resuscitation, surgery is required (ileostomy with mucous fistula for later re-anastamosis).
Persistent pulmonary hypertension of the neonate
- Presents before 12 hours of birth with sever hypoxemia/cyanosis in the setting of only mild respiratory distress
- Initial: CXR (normal, shows no underlying disorder)
- Diagnostic: Echocardiogram (Right to left shunt, through patent foramen ovale, in absence of congenital heart disease. Can also estimate pulmonary arterial pressure)
- ECG can demonstrate right ventricular strain
- Best: O2 supplementation (causes dilation of pulmonary arteries), mechanical ventilation, and inhaled NO.
- Consider extracorporeal membrane oxygenation (ECMO) with other therapy is unsuccessful.
Respiratory distress syndrome
- Respiratory distress
- Crackles in lung fields
- Diagnostic: CXR (homogenous infiltrates, reticulonodular pattern - ground glass, air bronchograms)
- Intensive care input
- Oxygen, nasal continuous positive airway pressure (NCPAP)
- More severe warrants mechanical ventilation and surfactant
- Corticosteroids are usually given to the mother to reduce the incidence and severity of this condition
- VACTERL association: vertebral dysgenesis, cardiac anomalies, tracheoesophageal fistula, renal anomalies, limb anomalies
- Congenital abnormality causing an abnormal connection between the oesophagus and trachea
- Type C is most common (proximal oesophageal atresia with distal oesophagus arising from lower trachea or carina)
- Should be suspected in an excessively drooling infant
- Other symptoms are choking, coughing, vomiting, cyanosis with onset of feeding
- Attempt to pass through a catheter down the oesophagus, if it stops progressing at 10cm from the lips, this is highly suggestive.
- Diagnostic: CXR showing NG tube coiled in oesophagus.
- Other investigations that should be performed are echocardiogram for congenital heart disease (25%) and renal ultrasound for agenesis if no urine has been passed
- Surgical repair
Transient tachypnoea of the newborn
- Self limiting disease in neonates (1-2% occurance)
- Often background of caesarean delivery without labour or precipitous delivery
- ABG and pulse oximetry
- Diagnostic: CXR demonstrating (“wet silhouette”, perihilar infiltrates/streaking, fluid in fissures). CXR is also used to rule out other causes.
- Supportive (most resolve in 24-72 hours).
- If the infant is hypoxic, then supplemental oxygen is helpful.
- Diagnostic: Clinical diagnosis
- Warm baths (+ foreskin retraction if possible) and application of topical steroid ointment
- If: Inflammation of the shaft of the penis. Then: bacterial infection likely so treat w oral antibiotics (co-trimoxazole or amoxycillin) + analgesia
- Empty scrotum/hemiscrotum
- Can be retractile, palpable or impalpable
- Diagnostic – Based on examination of inguino-scrotal region if testis is retractile or palpable. Laparoscopy is the investigation of choice for impalpable testis.
- For bilateral impalpable testes, a rise in serum testosterone in response to HCG injection can be used to confirm presence/absence of testicular tissue.
- Ultrasound has limited role as it cannot reliably distinguish between intra-abdominal or absent testis.
- Orchidopexy is indicated to optimize spermatogenesis, decrease risk of malignancy and for cosmetic and psychological reasons.
- Rarely, orchidectomy is indicated in very high testis in older child or unilateral intra-abdominal testis in post pubertal adolescent with normal contralateral testis.
- Conservative management (observation) can be considered if child is <6 months old as testes may descent spontaneously.
Enuresis – nocturnal
- Bed wetting at night
- Family history of enuresis
- More common in boys than girls (2:1)
- Organic causes include: UTI, severe fecal retention, osmotic diuresis
- Diagnostic: Based on clinical features (must determine primary vs. secondary)
- Always conduct urine dipstick for glucose, protein and infection
- Parents should be educated and reassured.
- No treatment is necessary if child is <6 years old.
- If child > 6 years old, then enuresis alarm, chart/diary, and desmopressin PRN may be considered.
- Fluid restriction is not indicated.
Haemolytic uremic syndrome
- Classic Triad - acute renal failure, microangiopathic haemolytic anaemia and Thrombocytopenia
- Typically secondary to gastrointestinal infection
- Prodrome of bloody diarrhea
- Normal clotting
- Diagnostic: No single test. Based on combination of clinical features and workup
- Typical workup should include CBE (anemia), blood smear (schistocytes), EUC (GFR), stool cultures (Positive for E. coli O157:H7).
- Follow-up: urine dipstick (persistent proteinuria), blood pressure (hypertension) and renal function testing in subsequent years.
- Typical diarrhoea associated HUS has good prognosis if given early supportive therapy, including dialysis.
- Atypical HUS without prodromal diarrhea has tendency to relapse and is often associated with high risk of long-term hypertension and chronic renal failure.
- Consider plasma exchange or plasma infusions if patient have atypical HUS or intracerebral involvement.
- Asymptomatic scrotal swelling
- Often bilateral
- May be associated with bluish discoloration
- Non-tender and transilluminates
- Diagnostic: Based on clinical features
- Ultrasound not routinely needed.
- The majority of hydroceles resolve spontaneously within 1 year.
- Surgery to repair processus vaginalis is indicated if hydrocele persists beyond 2 years of age or becomes symptomatic.
- See adult medicine → nephrology
Nephrotic syndrome (Paediatrics)
- Periorbital oedema
- Scrotal or vulva, leg and ankle oedema
- Diagnostic: Urinary protein: creatinine ratio and hypoalbuminaemia
- Workup: Urine dipstick, CBE and ESR, EUC, complement levels, ASO or anti-DNAse B titers, urine MC&S, urinary sodium concentration, malaria screen, hepatitis screen.
- Hospital admission is indicated on first presentation. Admitted patients should receive management for oedematous state and prophylaxis against complications (penicillin V and ranitidine).
- First line treatment of proteinuria is oral corticosteroid therapy, with reduction of dose after 4 weeks. This leads resolution of proteinuria in 85%-95% of cases.
- Proteinuria resistant to corticosteroid therapy may require renal biopsy.
- Inability to retract foreskin
- Occurs in 50% of boys at 1 years of age, becomes 1% by 16 years of age
- Pathological in the presence of whitish scarring of the foreskin
- Diagnostic: Based on clinical features where the foreskin is not retractile by time of established puberty, previously retractile foreskin becoming non-retractile OR obvious scar tissue visible at foreskin opening
- Most cases of phimosis can be initially treated with topical steroid creams (e.g. betamethasone valerate ointment).
- Circumcision can be considered if steroid fails.
Urinary tract infection
- Dysuria, frequency and flank tenderness
- Vomiting, diarrhoea
- Febrile seizure
- Offensive urine
- Poor feeding, lethargy and irritability
- Diagnostic: Clean catch urine collection (Mid-stream in older children) for microscopy and culture. Cultures showing > 105 colony-forming units of a single organism per ml gives 80% probability of infection.
- Supportive: Dipstick positive for blood +/- nitrates +/- white cells
- Consider SPA in severely ill infant requiring urgent diagnosis
- Follow-up: Children with atypical UTI should receive renal ultrasound to exclude obstruction. Children < 6 months should have a renal ultrasound within 6 weeks of diagnosis or during admission if UTI is atypical. In older children, consider ultrasound workup for recurrent UTI.
- Hospital admission is indicated for all infants < 3months old with suspicion of UTI.
- Specific choice of antibiotics should be based on the local hospital guidelines
- If an oral antibiotic is appropriate, then consider co-amoxiclav for 7-10 days.
- If IV antibiotics are required, gentamicin and benzylpenicillin are both recommended by Royal Children’s Hospital.
- Recurrent UTIs
- Familial pattern
- Renal malformation is present in severe cases
- Initial: Ultrasound may reveal structural abnormalities, obstruction or renal defects.
- Diagnostic: Micturating cystourethrogram (MCUG)
- Consider functional scans (DMSA) 3 months after UTI to avoid missing newly developed scaring.
- Treatment of VUR is controversial.
- Studies have shown no advantage in anti-reflux surgery or antibiotic prophylaxis in lowering development of nonfebrile UTI, renal scaring or renal failure.
- Mild VUR(Reflux into ureters only) may resolve spontaneously.
- Surgical correction (Ureteric re-implantation) is indicated in severe high grade VUR (dilatation of ureter, renal pelvis and calyces). Studies have shown that surgery decreases the incidence of pyelonephritis.
- Vaginal discharge – offensive smelling
- Skin irritation – particularly in surfaces between the labia
- Burning sensation on micturition
- Diagnostic: based on clinical history and examination
- Swabs are rarely taken, but can be considered if discharge is profuse or skin erythema extends beyond labia majora
- It is important to reassurance parents that the condition will settle with time (normally resolves at time of puberty)
- Application of simple barrier cream or bathing with addition of vinegar may help with symptoms.
- Advise parents to avoid irritants (synthetic fiber underwear, tight clothing, obese, soap residue, bubble baths)
- Sudden cessation of activity with staring
- Abrupt onset and termination (lasting 5-15 seconds)
- Associated with flickering of eyelids and minor alteration in muscle tone
- Returns promptly to normal activity at offset
- Diagnostic: EEG showing characteristic 3 Hz Spike and wave pattern. Can be precipitated with hyperventilation
- Brain imaging is unnecessary
- Medical therapy may include sodium valproate, ethosuximide or lamotrigine.
- Treatment usually continued for 2 years and then tapered down with goal of remission.
- Non progressive
- Abnormal posturing of limb and trunk
- Delayed motor milestones
- Oromotor incoordination
- Abnormal gait
- Asymmetric hand function
- Persistent primitive reflexes
- Subtypes – spastic, dyskinetic, and ataxic
- Diagnostic: Based on clinical examination of posture, pattern of tone, hand function and gait
- Spastic subtype – increased tone, brisk deep tendon reflexes and extensor plantars
- Dyskinetic – associated with chorea, athetosis and dystonia
- Ataxic – associated with hypotonia
- Further imaging not routinely performed
- It is important to provide diagnosis as early as possible and to manage symptoms via MDT approach (especially with input from physiotherapy and OT).
- Symptoms relating to spasticity may be managed medically with baclofen
- Recurrent unprovoked seizures
- Can be generalized or focal
- Focal seizure depends on discharge origin
- Frontal – clonic movement, travelling proximally
- Temporal – most common, associated with lip smacking, automatism, aura, deja vu, impaired consciousness.
- Occipital – cause distortion of vision
- Parietal – associated with contralateral dysaesthesia
- Diagnostic: EEG showing seizure activity (ideally 24 hour video-telemetry)
- CT/MRI scans only indicated if seizure is focal or in the presence of neurological signs between seizures.
- Increasing role in genetic studies
- Advice and explanation should be given to help families adjust to diagnosis.
- A decision must be made regarding the need for anticonvulsants therapy. This is dependent on seizure type, frequency, and impact on patient socially/educationally
- If anticonvulsants are indicated:
- For generalized seizures, first line is valproate and lamotrigine is second line.
- For focal seizures, first line is carbamazepine and second line is topiramate.
- Consider switching to a different drug if adequate control cannot be achieved.
- Anticonvulsants can be ceased if patient is seizure free for ≥2 years
- In children with intractable seizures, consider ketogenic diets, vagal nerve stimulation or surgery.
- Brief generalized tonic clonic seizure accompanied by a fever
- Absence of intracranial infection
- Occur between 6 months and 6 years of age
- Diagnostic: Based on clinical features. EEG is NOT indicated.
- It is important to determine the cause of the fever (incl. blood culture, urine culture and LP). If cause of fever is identifiable, then no additional investigations needed. Otherwise, consider septic workup.
- Priority should focus on treating the cause of the fever.
- Antipyretics have not been shown to prevent febrile seizures. Oral anticonvulsants are not used.
- It is important to educate family on management of seizures and offer reassurance.
- If patient has history-prolonged seizures (>5 minutes), rescue therapy with rectal diazepam or buccal midazolam may be considered.
- If: not admitted to hospital, patient should receive follow-up appointment with GP in <24 hours to assess progress.
Notes: Uncomplicated febrile seizure has no increased risk of epilepsy (1-2%). Complicated febrile seizure (focal, >15 mins or repeated in <24 hours leads to a 4-12% increased risk of epilepsy.
Infantile spasms (West syndrome)
- Epileptic spasms – brief tonic seizures
- Occurs in series over few minutes, with many episodes in a day
- Onset typically between 3 and 8 months of age.
- Sudden drawing up of the legs, hunching forward of the neck and shoulders, and flinging out of the arms.
- Developmental delay
- Intellectual disability
- Diagnostic: EEG showing diffusely disorganized pattern with high-voltage, multifocal epileptic activity (Hyperarrhythmia)
- Investigations to identify underlying cause (may be prenatal, perinatal or postnatal)
- Corticosteroids are first line therapy and more efficious than vigabatrine.
- Second line is vigabatrin, except in children with tuberous sclerosis.
Neurofibromatosis Type 1:
- 6 or more Café-au-lait spots
- 2 or more dermal neurofibroma
- Axillary freckles
- Optic glioma
- Lisch nodule
- Hamartoma of the iris
- Bony lesions from sphenoid dysplasia
- Associated with multiple endocrine neoplasia syndrome
- Positive family history – autosomal dominant
- Type 2 neurofibromatosis commonly have bilateral acoustic neuromata
- Diagnostic: Based on criteria with 2 or more of above clinical features
- Symptomatic management
- Surgery, radiotherapy and chemotherapy are indicated for associated tumours.
Spinal Muscular atrophy (Type 1)
- Autosomal recessive inheritance pattern
- Decreased fetal movement in late pregnancy
- Hypotonia, weakness, joint deformity, respiratory difficulty, poor feeding.
- Weakness maximal proximally in shoulder and hip girdle muscles
- Absent deep tendon reflexes
- Fasciculation of the tongue
- Intercostal recession
- Mild facial weakness with intact extraocular movement
- Diagnostic: genetic testing
- No cure is currently available.
- Death occurs by 18 months in 95% of patients, typically from pneumonia and respiratory failure.
- Seizure lasting > 5 minutes
- 2 or more seizures within 5 minutes period without recovery of consciousness
- Past history of seizures
- Focal neurological signs
- Developmental delay
- Neurocutaneous lesions on skin
- Diagnostic: Based on clinical features
- Important to determine underlying cause: Blood glucose, electrolytes, drug screen, EEG, CT scan
- It is important to first stabilise ABC and check/correct BSL.
- Treat active seizure with IV benzodiazepine and observe for response.
- Give a second dose if seizure is ongoing after 5 minutes of observation.
- If seizure is still ongoing after second dose, give IV phenytoin or phenobarbitone.
- If medical therapy is unsuccessful, consider transfer to PICU for rapid-sequence induction and mechanical ventilation
· Port-wine stain in distribution of trigeminal nerve
· Learning disability
· Diagnostic: Radiological findings and angiography
· Skull X-ray shows characteristic “roil-road track” calcification
· Urgent ophthalmology review is indicated due to high risk of glaucoma
· Port-wine stain can be lightened or removed with laser therapy
· Anticonvulsants are often used to control seizure activity.
· Patients presenting with intractable epilepsy may be treated with hemispherectomy
- Cutaneous - “ash leaf” patches, shagreen patches, and adenoma sebaceum
- Neurological features - Infantile spams and developmental delay, epilepsy, intellectual impairment
- Subungal fibromata
- Rhabdomyomata of the heart
- Polycystic kidneys
- Phakomata from local degeneration
- Initial investigation should include CT/MRI of brain, renal ultrasounds and echocardiograms.
- Genetic studies can be used to confirm diagnosis, though it can only identify mutations in up to 80% of affected individuals. Therefore, a negative test does not exclude tuberous sclerosis
- Therapeutic goal is to provide best quality of life with fewest complications
- Focal cortical tubers may be resected surgically, though this is considered palliative rather than curative.
- Medical – rapamycin
- Elevated IOP
- Involvement is bilateral, but asymmetrical
- Corneal haze
- Buphthalmos – large eye as result of stretching due to raised IOP
- Cupping of optic disc
- Watering, photophobia, blepharospasm
- Diagnostic: Examination under anesthesia showing raised IOP
- Must also conduct full ophthalmic exam (anterior chamber, disc, cornea)
- Gonioscopy may be normal or reveal trabeculodysgenesis
- Suspected cases require urgent referral to ophthalmology
- Definitive management is via surgery – Goniotomy or trabeculotomy
- Manage amblyopia and refractive error aggressively.
Congenital nasolacrimal duct obstruction
- Excessive watering of eye (epiphora)
- Matting of eyelashes
- History of intercurrent frank bacterial conjunctivitis
- Mucopurulent reflux with pressure over lacrimal sac
- Diagnostic: Based on clinical features.
- The fluorescein disappearance test is highly specific – should normally remain at most for 5-10 minutes.
- Assess visual function and anterior segment. Confirm presence of red reflex.
- If children is < 12 months, conservative treatment is indicated as majority (95%( resolve spontaneously in the first year of life.
- Definitive treatment is probing of nasolacrimal duct via fine wire to disrupt the obstructive membrane at the valve of Hasner.
- If probing fails, further options include intubation with silastic tubing, endoscopic procedures and dacryocystorhinostomy.
Herpes Simplex Keratitis
- Redness, photophobia
- Watery discharge
- Blurred vision
- Swollen opaque epithelial cells, dendritic ulcer, decreased corneal sensation, subepithelial haze, mild anterior activity
- Diagnostic: Based on clinical features. Important to conduct complete eye exam with slit lamp and fluorescein staining.
- Pre-treatment scrapings can be sent for culture and PCR (identifies HSV 1)
- The most frequently used drugs are acyclovir 3% ointment and ganciclovir 0.15% gel, each administered five times daily. 99% of ulcers heal within 2 weeks.
- Oral acyclovir is indicated in immunodeficient patients.
- Topical steroids are not typically used
- Consider debridement (wiping corneal surface with sterile cellulose sponge) for resistant disease.
Neonatal conjunctivitis (Ophthalmia neonatorum)
- Occurs in first few months of life, symptoms depends on etiology
- Timing of onset: gonococcal (first week), HSV (1-2 weeks), chlamydia (1-3 weeks)
- Discharge: watery (HSV), mucopurulent (chlamydia), hyperpurulent (gonococcal)
- Severe eyelid oedema: gonococcal infection
- Eyelid and periocular vesicle: HSV infection
- Corneal ulcers: HSV, gonococcal
- Diagnostic: Conjunctival scraping for PCR (HSV, chlamydia) and Conjunctival swab taken with calcium alginate swab for culture (N. gonorrhoeae)
- Obtain results from parenatal prenatal STI testing
- Tailored to clinical picture
- Chlamydial infection should be treated with oral erythromycin for 2 weeks
- Gonococcal conjunctivitis should be treated with 3rd generation cephalosporin. Consider co-treatment for chlamydia.
- HSV should be treated as a systemic condition with IV acyclovir. Must rule out encephalitis.
Retinopathy of prematurity
- Premature low birth weight (<1500g)
- Babies born before 30-32 weeks gestation
- History of early exposure to high ambient oxygen concentration
- Disease classified based on location, staging, and type.
- Diagnostic: Indirect ophthalmoscopy with a 28D lens
- Consider screening for babies born at or before 30-32 weeks gestation, or weight <1500g
- Screening should begin 4-7 weeks postnatally, with review at 1-3 week intervals
- Follow-up: long term monitoring for refractive rror, strabismus, amblyopia
- Urgency of treatment depends on disease classification. Type 1 ROP should be treated within 72 hours of diagnosis. Type 2 disease requires observation,
- Laser ablation of avascular peripheral retina
- Intravitreal anti-VEGF agents – optimal agent yet to be established
- Pars plana vitrectomy – indicated for traction retinal detachment not involving macula.
Developmental dysplasia of the hip
- Often identified during neonatal screening
- Asymmetry of skinfolds around hip
- Limited abduction of hip, shortening of affected leg
- Limp or abnormal gait
- Initial/Diagnostic: Barlow and Ortolani tests during neonatal screening
- If physical exam is inconclusive, diagnostic testing is via Ultrasound for infants <6months and Plain X-ray (Hilgenreiner’s and Perkin’s lines) for infants <6months.
- All suspected developmental dysplasia of the hip should obtain an orthopedic specialist opinion. Treatment depends on the patient’s age.
- If patient < 6 months, then a Pavlik harness is often used. This requires a harness to be worn 23 hours per day for 6 weeks, followed by nights only for 6 weeks.
- If patient 6 months – 18 months, then closed reduction under anesthesia and spica cast for 3-4 months (change case every 6 weeks)
- If patient is > 18 months of age, then treatment is typically open reduction under anesthesia and spica cast.
- Persistent knee pain in physically active adolescent
- Intermittent ache or swelling
- Symptoms of knee locking or giving way
- Localised tenderness over femoral condyle
- Wilson’s sign – pain is elicited if knee flexed to 90 degrees, rotated medially and then gradually straightened.
- Diagnostic: Combination of clinical features and Plain X-Ray findings
- X-ray may show line of demarcation around a lesion in situ that is best appreciated in tunnel view.
- Radionuclide scan, MRI and arthroscopy may assist to determine if fragment is stable or loose.
- Early disease where the cartilage is intact and the lesion is stable can be managed conservatively with decreased activity for 6-12 months.
- If fragment is unstable, then arthroscopy is indicated.
- Mainly affects boys aged 5-10 years of age
- Insidious onset, typically with a limp or hip/knee pain
- Often mistaken for transient synovitis
- Diagnostic: plain XR (AP and frog-leg laterals) of both hips. XR may show increased joint space, oddly shaped femoral head, apparent increased density of femoral head.
- If initial XR is negative, but symptoms persist, then consider repeat XR, MRI or bone scan
- Conservative management with bed rest and traction is indicated if disease is identified early and less than half of the femoral head is affected.
- In severe disease, bracing of hip in abduction is needed to ensure coverage of femoral head by acetabulum.
- Visible deformity
- Irregular skin creases
- Difference in shoulder height
- Back prominence due to rotation of vertebral bodies
- Cardiorespiratory symptoms in severe cases due to distortion of chest
- Diagnostic: Mild disease can be diagnosed based on clinical features.
- Adam’s test – differentiates fixed scoliosis from postural or mobile scoliosis. On bending forward, the deformity becomes more obvious in fixed scoliosis.
- X-ray is indicated to assess severity and progression in severe scoliosis.
- Consider pulmonary function test in case of severe chest deformity.
- The type of treatment depends on degree of curvature (cobb angle) and type of scoliosis.
- If Cobb angle is >45 degrees OR cosmetically unacceptable OR patient has respiratory problems, then surgical correction is necessary.
- If Cobb angle is between 25-45 degrees OR progressive, then non-medical treatment in the form of bracing should be considered.
- If Cobb angle <25 degrees, then observation is indicated.
- Surgery indicated if there is coexisting pathology such as neuromuscular or respiratory disease
Slipped capital femoral epiphysis
- Most common in 10-15 years of age
- Bilateral involvement in 20% of cases
- Often presents with limp or hip/knee pain.
- Onset may be acute following minor trauma or insidious
- Diagnostic: X-ray showing Trethowan’s sign and loss of triangular sign of Capener. In particular, a frog lateral view (along with AP) should be requested.
- The definitive treatment is surgery with pin fixation
- Prompt treatment is required to prevent avascular necrosis.
- Entire foot is fixed in inverted and supinated position
- Forefoot is adducted
- Heel is rotated inwards in plantar flexion
- Often bilateral involvement
- Diagnostic: Based on clinical features described above.
- First line treatment is the Ponsetti method, which involves plaster casting and bracing.
- Cast may be required for many months and usually leads to resolution in up to 90% of cases.
- Consider corrective surgery if Ponsetti method fails.
- Cleft lip can be unilateral or bilateral- results from failure of fusion of the frontonasal and maxillary processes.
- Cleft palate – results from failure of future of palatine processes and the nasal septum
- Diagnostic: Based on clinical features.
- May be detected on antenatal ultrasound screening
- Follow-up: ENT review for secretory otitis media
- Cleft lip/palate require surgical correction and input from multi-disciplinary teams (speech therapist maxillofacial/plastic/ENT surgeons and dentists)
- Cleft lip may be repaired in the first week of life for cosmetic reasons; although there is debate that delaying surgery may lead to better results.
- Cleft palate is usually repaired at 6-12 month of age.
- Recurrent wheezing
- Cough, breathlessness, chest tightness
- Worsening of symptoms at night and in the morning
- Identifiable trigger – exercise, pets, dust, cold air
- Family history of atopy
- Chest – hyperinflation, Harrison’s sulcus sign
- Diagnostic: Generally based on clinical history and examination. Diagnosis can be confirmed via spirometry.with >10-15% bronchodilator response.
- Chest X-ray: rule out other conditions
- Skin prick testing to diagnose atopy and identify allergens.
Treatment (Acute Asthma):
- Based on assessment of asthma severity
- Mild/Moderate – can walk, speak sentences, O2 > 94%
- Severe – use of accessory muscle, unable to complete sentence, respiratory distress, O2 Saturation 90-94%
- Critical – Reduced consciousness, cyanosis, O2 <90%, exhaustion, poor breathing effort
- For acute exacerbations:
- If: Mild
- Given salbutamol via spacer and review response after 20 minutes. Give 6 puffs for children < 6 years and 12 puffs for children >6 years.
- If patient shows significant improvement, then consider discharge with SABA and oral prednisolone (3-5 days)
- For all patients, it is important to assess usual asthma control and write asthma action plan on discharge
- If: Moderate
- Given salbutamol (refer above for dose) once every 20 minutes for 1 hour. After 1 hour, “stretch” next salbutamol dose. When doses “stretched” to 4 hourly, then consider discharge
- Oral prednisolone
- Consider supplemental oxygen if O2 saturation <92%.
- If patient shows poor response, then treat as severe.
- If: Severe.
- Involve senior staff
- Give salbutamol as above and add Ipratropium (Give 4 puffs if age <6 or 8 puff is >6 every 20 minutes).
- O2 as above
- Oral/IV steroids
- If patient continues to deteriorate, then treat as critical
- If: Critical.
- Treatment same as above
- Consider ICU admission and magnesium sulphate
- If: Mild
- For long term management:
- Step-up approach with:
- 1) Control triggers
- 2) SABA
- 3) add ICS
- 4) add Monteleukast
- 5) ICS+LABA.
- Step-up approach with:
- Symptoms likened to severe croup
- Associated with high fever, toxic appearance
- Markedly tender trachea
- Thick airways secretions
- Diagnostic: Based on clinical features
- Culture of tracheal secretion can confirm causative organism (normally staph. Aureus).
- Imaging is neither definitive nor essential
- Layrngotracheobronchoscopy is indicated for definitive diagnosis
- The priority of treatment is to stabilize the airway. Mild cases can be managed with bag and mask ventilation, while severe cases may require intubation.
- Obtain IV access for initiation of antibiotics once airway is secure.
- Affects mainly children aged 1-9 months
- Coryzal symptoms
- Dry cough and increasing breathlessness and feeding difficulties
- Signs of respiratory distress (e.g. subcostal recession, cyanosis)
- Fine end inspiratory crackles, prolonged expiration
- Diagnostic: Usually clinical diagnosis. Respiratory virus (e.g. RSV, adenovirus, influenza, parainfluenza, rhinovirus) can be identified by PCR of nasopharyngeal secretions
- Supportive: Chest X-ray showing hyperinflation, air trapping (though this not routinely performed)
- The principle of management is mainly supportive therapy with hydration and antipyretics.
- Considering humidified oxygen (delivered via nasal cannula) if patient demonstrates increased work of breathing or O2 Saturation is <92%.
- Prevent cross infection by isolating suspected patients and exercising good hand hygiene
- Gradual onset of symptoms
- Characteristic barking cough
- Harsh stridor and hoarseness
- Preceding low grade fever and coryza
- Diagnostic: Based on clinical features. Generally no investigations are required.
- Nasal swab can confirm the causative pathogen (Parainfluenza most common)
- Supportive: Chest X-ray show “steeple sign”
- Mild cases (e.g. no stridor or respiratory distress at rest) can be managed safely at home with observation and reassurance.
- Consider hospitalization if child’s age <12 month, difficulty coping at home or ongoing symptoms at rest.
- Oral Dexamethasone, prednisolone and nebulized steroids are often used to reduce severity and duration of croup in hospitalized children.
- Severe upper airway obstruction can be treated with nebulized adrenalin. Patients should be closely monitored after delivery of adrenalin due to risk of rebound symptoms.
- Rapid onset of symptoms – very acute
- High fever (> 38.5)
- Absent or slight cough
- Soft inspiratory stridor
- Tripod position – child sitting immobile, upright with open mouth
- Diagnosis: Based on clinical symptoms
- Suspected epiglottitis should be admitted to hospital with urgent anesthesia or ENT review.
- Treatment is to secure airway via intubation
- Commence antibiotics therapy (cefuroxime) AFTER airway is secured.
- Consider prophylaxis with rifampicin for close contacts.
- 3 characteristic phase of symptoms
- Catarrhal phase – characterized by week of coryza
- Paroxysmal phase – paroxysmal cough followed by inspiratory whoop (3-6 weeks)
- Convalescent phase – gradual resolution of symptoms (months)
- Diagnostic – Culture of Nasal swab or Bordetella pertussis PCR
- Supportive – marked lymphocytosis on CBE
- Erythromycin is effective in reducing symptoms if started during catarrhal phase
- Consider admission and isolation for infants and young children with severe symptoms (e.g. cyanosis or apnea)
- Erythromycin prophylaxis should be given to all close contacts.
- Respiratory Distress
- Increased respiratory rate
- Fever, Cough, lethargy, poor feeding
- History of PPROM, chorioaminonitis, low birth weight
- End-respiratory coarse crackles
- Signs of consolidations are typically absent
- Diagnostic: CXR (Generally cannot differentiate viral from bacterial)
- Nasopharyngeal aspirate can identify viral causes in younger children
- Consider admission if saturation <90% on RA, severe tachypnea, difficulty breathing, grunting, apnea, not feeding and failing to cope at home.
- All patients should receive general supportive care including oxygen (e.g. O2 via nasal cannula at 2L) and analgesia
- Choice of antibiotic therapy is dependent on child’s age and the likely causative agent.
- Consider IV Benzylpenicillin for newborns (GBS)
- For older infants, oral amoxicillin or erythromycin is appropriate
- Purpuric Rash - Over lower legs and buttocks
- Joint and knee swelling
- Abdominal pain – risk of intussusception
- Renal – hematuria, nephrotic syndrome
- Often precipitated by recent URTI
- Diagnostic: Based on clinical features of purpuric rash that is symmetrically distributed over extensor surfaces, the buttocks and the ankles, with sparing of the trunk.
- Supportive: Depends on system involvement. Urinalysis can assist in detecting microscopic hematuria. Ultrasound is indicated if intussusception is suspected.
- Surveillance/follow-up: Patients with renal involvement should be monitored for 6 months – 1year post treatment via urinalysis.
- Dependent on the organ system involved. Most cases of henoch-schonlein purpura are self-limiting and require supportive care.
- Joint pain can be managed with NSAIDs and usually subsides before rash.
- Severe renal involvement may require immunosuppressive therapy (refer to management of nephrotic syndrome)
Note: self-limiting in 4 weeks
Juvenile idiopathic arthritis
- Presents before 16 years of age
- Persistent joint pain > 6 weeks
- Morning stiffness and after periods of inactivity
- Absence of other defined causes (e.g. infection)
- Exam: joint swelling, effusion, limb deformities, uveitis, and growth failure.
- Diagnostic: Based on clinical presentation of persistent joint pain (>6 weeks) in the absence of other defined causes.
- Supportive: Depends on the subtype but may be associated with ANA, RF, HLAB27, anemia, raised neutrophils/platelets
- Surveillance/Follow-up: regular ophthalmological screening for anterior uveitis
- Suspected JIA should be referred for management by rheumatology
- Symptoms can be managed medically with NSAIDs, though this does not modify disease process.
- Methotrexate is the initial disease-modifying agent, and if used early, can reduce extent of joint damage.
- Consider biologics for severe disease refractory to methotrexate.
- Systemic corticosteroids should be avoided due to risk of osteoporosis and growth suppression.
- Fever > 5 days
- Conjunctivitis – Non Purulent
- Mucous Membrane changes – erythema, cracked lip, strawberry tongue
- Cervical lymphadenopathy
- Rash – peeling of palms and soles
- Diagnostic: Based on presentation of fever > 5 days and 4 other classic clinical features.
- Supportive: Raised inflammatory markers, raised platelet count
- Surveillance/Follow-up: Echocardiogram in 6 weeks to rule out coronary artery aneurysm – a serious complication.
- Suspected Kawasaki disease should be promptly treated with Intravenous immunoglobulin (IVIG), preferably within first 10 days of disease onset to lower risk of coronary artery aneurysm.
- Aspirin is used initially at high anti-inflammatory dose until fever subsides and inflammatory markers are normal to lower risk of thrombosis.
- Aspirin should be continued at low antiplatelet dose for a further 6 weeks until follow-up echocardiogram is conducted.
- Patients with confirmed coronary artery aneurysm on echocardiogram may require follow-up treatment with long-term warfarin.
- Disease refractory to IVIG may be treated with infliximab, steroids or ciclsporin.