Paediatrics Matrix

Congenital Heart Defects

Disruption of normal sequence of cardiac morphology leads to the formation of pathological connections (shunts) b/w right and left heart chambers → blood flows from high pressure to low pressure

Shunts:

Left-to-Right Shunt: oxygenated blood from lungs shunts back into pulmonary circulation via ASD, VSD or PDA → pulmonary HTN → RV pressure overload → RH Hypertrophy/HF (but no cyanosis)

Right-to-Left Shunt: blood flows from RH to LH via shunt → deoxygenated blood enters circulation → cyanosis

Eisenmenger Syndrome: pulmonary arterial HTN

1. Prolonged pulmonary HTN from L-t-R shunt → constriction → permanent pulmonary vessel remodelling → irreversible pulmonary HTN

2. RV hypertrophy compensates pulmonay HTN → ↑ in RV pressure exceeds LV pressure → blood flow reversal → cyanosis

• In pts w PDA, cyanosis is in lower extremeties

• Mx: lung/heart-lung transplant

Sx: exercise intolerance (fatigue, pallor, diaphoresis, tachycardia, dyspnoea, grunt/nasal flaring), failure to thrive, recurrent bronchopulmonary infections

• RHF: hepatic venous congestion (w hepatomegaly)

• LHF: tachypnoea, pulmonary oedema, ↓ cardiac output (↓ BP, pallor, sweats, cool extrem., syncope)

Ventricular Septal Defect Ix (R1)

Simple Acyanotic CHD, Most common CHD

Left-to-Right Shunt → RV Hypertrophy → Pulmonary HTN → ↓ Cardiac Output → LV Hypertrophy

Occurs isolated or w other defects (AVSD, ToF, TGA)

RF: Down Syndrome, Intrauterine Inf. (TORCH etc), Maternal Diabetes

Sx: Cough, noisy breathing/breathing difficulties, recurrent bronchopulmonary inf., CHF, exercise intolerance, swelling/oedema, failure to thrive/LOW, short stature, crying/irritable/unwell, dysmorphic features, newborn resp. distress

• Small defects = asymp., Medium/Large defects = HF by age 2-3m

Ix:

First Line: Clinical Exam = pansystolic or harsh holosystolic murmur over L sternal border, mid-diastolic murmur; CXR = cardiomegaly, overload; ECG = LV/RV hypertrophy (↑ QRS, LAD, RAD, prolong PR, RBBB)

Gold Standard: Echocardiogram (size, location, L-t-R blood flow etc) + Doppler US (L-t-R blood flow)

Ventricular Septal Defect Mx (R1)

Mx: nutrition, diuretics, ACEi, Surgical Closure

First Line: Echocardiogram monitoring (small defects often heal spontaneously)

Long Term: Surgery (VSD closure if sx)

• Indications: children <1yr w pulmonary HTN, children not improved w medical therapy

Cx: pulmonary HTN, HF, cyanotic disease (TOF, truncus arteriosus), arrhythmias, Eisenmenger syndrome, infective endocarditis, aortic regurgitation

Assoc. Conditions: pulmonary atresia, tetralogy of Fallot, Truncus Arteriosus

Atrial Septal Defect Ix (R1)

Simple Acyanotic CHD, Second most common CHD

1. ASD I (Ostium primum atrial septal defect) = 15-20%, usually accompanied by other heart defects

2. ASD II (Ostium secundum atrial septal defect) = 70%, usually isolated

ASD → O2 blood shunting from LA to RA → ↑ O2 sat. in RA → ↑ O2 sat. in RV/pulmonary artery

RF: F>M, chromosomal assoc. (Downs Syndrome etc), fetal alcohol syndrome, Holt-Oran (hand-heart) synd.

Sx: Exertional dyspnoea/fatigue, recurrent bronchopul. inf. supraventricular arrhythmias, Cough, noisy breathing/breathing difficulties, swelling/oedema, failure to thrive/LOW, short stature, crying/irritable/unwell, dysmorphic features, newborn resp. distress

• Often minimal sx until adulthood (acyanotic), small defects = asymp.

Ix:

First Line: Clinical Exam = systolic ejection murmur, widely split fixed S2; CXR = enlarged right heart and pulmonary artery; ECG = RV hypertrophy (RAD, RBBB)

Gold Standard: Echocardiograph (size, shunt volume, global cardiac function, interatrial communication etc)

Atrial Septal Defect Mx (R1)

Mx: nutrition, diuretics, ACEi, Surgical Closure

First Line: Echocardiogram monitoring (often spontaneous closure)

Long Term: surgery (atrial septosomy, ASD closure)

Cx: HF, pulmonary HTN (chronic left-to-tight shunt and AV valve regurg.), Embolism/ischaemic stroke

Assoc. Conditions: pulmonary atresia, Total Anomalous Pulmonary Venous Return

Cardiac Failure Ix (R1)

Abnormality of cardiac structure/function leading to failure of the heart to deliver oxygen at a functional rate

• Due to over-circulation or pump failure

RF: CHD/large left-to-right shunts/valve regurg. (ASD, VSD, PDA), Infections

• Commonly due to structural heart disease and reversible conditions

Sx: Tachypnoea, Tachycar, Cool Extremeties/Cyanosis, Reduced/Unequal Pulses, Cough, swelling/oedema, noisy breathing/breathing difficulties, failure to thrive/LOW, crying/irritable/unwell, Gallop Rhythm, Hepatomegaly

• May be asymp.

Ix:

First Line: Clinical Exam, ↑ BNP, CXR (cardiomegaly, ↑ pulmonary markings), ECG (sinus tachy, LBBB, MIs)

Gold Standard: Echocardiograph (ventricular function, valve lesions, shunts etc)

Cardiac Failure Mx (R1)

Mx:

First Line: Stabilize cardiopulmonary function (Diuretics, Dopamine, Ventilation/O2, Correct Metabolic Acidosis); Devices = ICD; Transplant (end-stage HF)

• Neonate: prostaglandins (maintain ductal patency)

• Congestion: diuretics (furosemide)

• ↑ Contractility: ionotropes (dopamine, dobutamine)

• ↓ Afterload: vasodilators (milrinone)

• Cardiac Failure: diuretics, digoxin, ACEis (captopril = better in neonates, enalapril = >2yrs), spironolactone, BB (carvedilol, metoprolol), inotropes

  • Watch children on ACEi for ↓ renal func. and hypotension

Long Term: surgery

Cx: pulmonary HTN, cardiogenic shock, chronic ventricular dysfunction\, staged palliation/transplant

Rheumatic Fever (R2)

Multisystem inflammation resulting from an autoimmune response to Streptococcus pyogenes (GAS) usually after recurrent infection (pharyngitis or impetigo)

RF: Children age 5-14yrs, Aboriginal Origin, poverty, overcrowding, genetics, immunosuppression/↓ immunity

Sx: Fever/PUO, Cough, noisy breathing/breathing difficulties, swelling/oedema, failure to thrive/LOW, limp/joint pain, rash/skin changes

• Carditis: SOB, exercise intolerance, tachycardia, apical systolic/basal diastolic murmurs, HF

• Most commonly affects mitral valve = mitral murmur

Ix: Clinical Exam (Duckett Jones ARF Criteria), Throat Swab, ECG (PR Prolongation), Echocardiograph (valvulitis, ventricular dysfunction), ESR/CRP, Antistreptolysin O Titre

• Major Criteria: carditis, polyarthritis, chorea, erythema marginatum, subcut. nodules

Mx: IM benzathine benzylpenicillin

• Acute: Aspirin, Oral Penicillin V/IM Benzyl Penicillin G

• Secondary Prevention: IM Bezathine Penicillin (every 3-4wks until 21yrs if no carditis or 40yrs if carditis present)

• Arthritis/Severe Arthralgia: naproxen, ibuprofen, aspirin

Cx: Chronic Rheumatic Heart Disease (valvular scarring, HF, AF, embolisms, need valvular transplants)

• Rheumatic Heart Disease: damage to the cardiac valves accumulating over recurrent episodes

Patent Ductus Arteriosus (R2)

Simple Acyanotic CHD

Failure of the ductus arteriosus to completely close postnatally

RF: Down syndrome, fetal acohol syndrome, congenital rubella

Sx: Cough, noisy breathing/breathing difficulties, swelling/oedema, failure to thrive/LOW, short stature, crying/irritable/unwell, newborn resp. distress

• Small = asymp., Large = wide pulse pressure

• Murmur = continuous ‘machinery’ murmur

• PDA = Prolonged Deafening Auscultations

Ix: Clinical Exam, CXR (↑ pulmonary blood flow, aortic knob), ECG (LAD), Echocardiogram (visualise ductus and quantify shunt, L cardiac enlargement)

Mx: Observation, Surgery/Interventional (Closure, Coil Embolisation, Amplatzer Ductal Occluder via catheter)

Cx: HF, pulmonary HTN, endarteritis, infective endocarditis, Eisenmenger syndrome, cyanosis

Tetralogy of Fallot/TOF (R2)

Complex Cyanotic CHD

Simultaneous occurrence of four defects:

1. RV Outflow Tract Obstruction (RVOTO) due to pulmonary infundibular stenosis

2. RV Hypertrophy (RVH)

3. Ventricular Septal Defect (VSD)

4. Overriding Aorta (aorta displaced above VSD)

R-t-L shunting → blood flow RH to LH → deoxygenated blood → cyanosis

ToF: A ventricular septal defect → blocked RV outflow → Aorta override → RV hypertrophy

RF: DiGeorge syndrome, Down synd., Maternal Diabetes, ETOH consumption, phenylketonuria

Sx: Clinical Cyanosis = ‘Blue Baby’ (pale grey/blue skin), Hypoxemia, Failure to thrive/LOW, short stature, fits/faints/funny turns

• Tetrad: VSD, RV Outflow Obstruction, Overriding Aorta, RV Hypertrophy, Cyanosis, ‘Boot-Shaped’ Heart on CXR

• Clinical Cyanosis, Harsh Systolic Murmur

• Untreated Children tend to Squat: ↑ SVR → ↓ R-t-L shunt

Ix: Clinical Exam (Harsh Systolic Murmur), CXR (‘Boot-Shaped’ Heart), ECG (RAD), Echocardiogram (RVOT obstruction, VSD severity), ↓ SPO2

Mx: requires early surgical intervention (shunt or repair: to ↑ pulmonary blood flow or repair TOF/close VSD) - Bad Prog without surgery! (age 1-3yrs)

• Pharm: Prostaglandin E1 infusion (Alprostadil) = prevents closure of ductus arteriosus = intentional shunt → mix de/oxygenated blood

• Administer O2, Morphine

Cx: Residual RVOT obstruction, pulmonary regurg., arrhythmias, long‑term RV dysfunction

Transposition of Great Arteries (R2)

Complex Cyanotic CHD

Anatomical reversal of the aorta and pulmonary artery

R-t-L shunting → blood flow RH to LH → deoxygenated blood → cyanosis

Aorta connects to RV rather than LV, receives cyanotic blood, whilst pulmonary arteries connect to LV

RF: Maternal Diabetes, DiGeorge syndrome

Sx: Clinical Cyanosis = ‘Blue Baby’ (pale grey/blue skin), Hypoxemia, Cough, noisy breathing/breathing difficulties, failure to thrive/LOW, newborn resp. distress

• Severe Neonatal Cyanosis unresponsive to O2 (due to parallel circulations → survival depends on mixing via ASD, VSD, or PDA)

Ix: Clinical Exam (systolic murmur at left sternal border), CXR (‘Egg on a String’ heart), ECG, Echocardiogram (aorta arising from RV and pulmonary artery from LV)

Mx: requires early surgical intervention (transposition repair - switches Aorta and Pulmonary Arteries, Atrial septostomy to improve mixing); Maintain PDA w prostaglandin where needed

• Pharm: Prostaglandin E1 infusion (Alprostadil) = prevents closure of ductus arteriosus = intentional shunt → mix de/oxygenated blood

Cx: coronary insufficiency, ventricular dysfunction, arrhythmias

• Poor Prog without Tx (will die within first year)

Infective Endocarditis (R2)

Infection involving the endocardial surface of the heart, incl. valvular structures, chordae tendineae, sites of septal defects, mural endocardium

RF: valvular/congenital heart disease (RHD, CHD), TAVI/valve implantation, ToF

• Staphylococcus, Streptococcus, Enterococcus = pathogens associated w endocarditis from TAVI

Sx: Fever/PUO, embolism/splinter haemorrhage, swelling/oedema, pallor, bruising/abnormal bleeding, fits/faints/funny turns, crying/irritable/unwell, eye issues, newborn resp. distress

• Murmur (type is valve-dependent)

Ix: Clinical Exam, blood cultures x3, CRP/ERC, ECG, Echocardiogram: TOE>TTE (vegetations, valve destruction)

• Duke Diagnostic Criteria

Mx: IV abx, HF mx, Surgery (valve repair/replacement)

• Abx: nonsevere = cephalosporin-based abx; severe = non–beta-lactam abx (fluclox, cefazolin)

• Also consider Gent ± Vanc (nephrotoxic risk) for Staph A. etc

• Streptococci = IV penicillin or ceftriaxone

Cx: valve destruction, HF, embolic events, RHD, infection of other organs/sepsis/septic shock

Croup Ix (R1)

Viral laryngotracheobronchitis causing inspiratory stridor + barking cough

• URTI causing mucosal inflammation anywhere bw the nose and trachea

Pathogens: Parainfluenza Virus (most common), influenza, RSV, SARS‑CoV‑2, adenovirus, measles

RF: 6m-6yrs, M>F

Sx: harsh barking cough, hoarse voice, inspiratory stridor (severe may be biphasic), sx worse at night, ↑ WOB (tracheal tug, recession)

• Sx usually over 1-4d and worse at night

• Red Flags: sx resp. failure (drowsiness/↓ GCS, lethargy, cyanosis, tachycardia)

Ix: Mainly a clinical dx

First Line: Clinical Exam, Westley Croup Score

Consider: FBC, CRP, UEC, CXR (rule out foreign bodies/other causes), Direct/indirect laryngoscopy

Croup Mx (R1)

Mx:

First Line: supportive mx (paracetamol, ibuprofen)

• Mild: oral dexamethasone, prednisalone

• Moderate/severe: nebulised adrenaline + steroids

• Consider intubation if impending obstruction

Cx: Lymphadenitis, Otitis Media, Dehydration

Asthma Ix (R1)

Variable resp sx + variable airflow limitation

Reversible and paroxysmal constriction of the airways, w airway occlusion by inflammatory exudate, and late airway remodelling

RF: FHx atopy/Genetics, low birth weight, prematurity, parental smoking

Sx: Wheeze, cough, dyspnoea, chest tightness, hyperinflated chest (poorly controlled)

• Indicators: recurrent sx, worse at night/early morning, triggers (exercise, cold air, allergens), FHx atopy, SABA response, post-bronchodilatory improvement on spirometry

Ix: Clinical Dx

First Line: Spirometry (poor control = FEV1:FVC <70%, reversible w bronchodilators)

Consider: CXR, Peak expiratory flow rate (PEFR), Bronchial provocation tests (histamine, metacholine), Exercise testing, Skin prick testing

Asthma Mx (R1)

Mx:

Ensure a written Asthma Action Plan is made

Step Up Therapy Age 1-5yrs:

1. SABA prn: Salbutamol, Terbutaline

2. Regular Preventer: ICS (fluticasone), Montelukast

3. Step Up Preventer: ICS high dose or ICS low dose + Montelukast

Tx of wheeze in children 1-5yrs is often not necessary

Step Up Therapy Age >6yrs:

1. SABA prn: Salbutamol

2. Regular Preventer: ICS (fluticasone, budenoside), Montelukast (+ Reliever prn)

3. Step Up Preventer: ICS high dose or ICS low dose + LABA or ICS low does + Montelukast (+ Reliever prn)

Severe Asthma: ipratropium (Atrovent) - SAMA, tiotropium - LAMA, mabs, prednisalone, consider deamethasone (pred. alternative)

Acute: Adolescents on combination reliever/preventer (e.g. budesonide/formoterol) should be mx w salbutamol for acute exacerbation

Cx: asthma exacerbation

Cystic Fibrosis Ix (R1)

Autosomal recessive CFTR mutation resulting in multisystem disease

RF: Caucasian European, FHx/carrier Hx

Sx: chronic wet cough, recurrent infections, bronchiectasis, nasal polyps, digital clubbing, failure to thrive, Pancreatic insufficiency → steatorrhoea/FTT, Meconium ileus, Male infertility, neonatal jaundice

Ix:

First Line: Guthrie test (neonatal screening), Immunoreactive Trypsinogen (IRT) Heel Prick

Gold Standard: Chloride sweat test

Consider: Spirometry, CFTR genetic testing, Respiratory cultures, CT Chest

Cystic Fibrosis Mx (R1)

Mx: refer to GP, resp. paediatrician/CF specialist, dietician, physiotherapist, psychologist etc

Prioritise nutrition due to poor vitamin absorption

Acute: abx for pulmonary exacerbations

Long Term:

• Airway clearance/chest physio/vest therapy

• Inhaled Therapies: bronchodilator (salbutamol), Nebulised hypertonic saline, inhaled abx for chronic Pseudomonas (tobramycin, colistin)

• Anti‑inflammatory therapy: long term Azithromycin (for anti‑inflammatory effect)

• CFTR Modulators: depends on genotype, targets underlying protein defect → Trikafta = Elexacaftor, Tezacaftor, Ivacaftor; Orkambi = Lumacaftor, Ivacaftor; Symdeko = Tezacaftor, Ivacaftor; Kalydeco = Ivacaftor (monitor LFTs, eye/cataracts)

• Pancreatic Enzyme Replacement Therapy (PERT)

Cx: airway infections (mainly Pseudomonas aeruginosa), infertility, CF-related DM (pancreatic insuff.), neonatal jaundice (cholestasis), distal intestinal obstruction syndrome (DIOS), liver disease

Bronchiolitis Ix (R1)

Viral infection of the bronchioles (smallest air passages in the lungs)

Viral LRTI in infants → small airway obstruction

Pathogens: RSV (most common), hMPV, adenovirus, influenza

RF: <12m (up to 18–24m), Winter/Spring, breast feeding for <2m, smoking, chronic lung disease (prems)

• For Severe Disease: rematurity, CLD, CHD, Down syndrome, immunodeficiency

Sx: Coryza → cough → ↑ WOB, tachypnoea, low grade fever, wheeze/crackles, poor feeding, apnoea (espec. prems), nasal flaring, hyperinfl. chest, cyanosis/pallor

• Sx usually over 2-5d

Ix: pulse oximetry, CXR only if atypical

First Line: bloods/urine culture (if pyrexic)

Gold Standard: Nasopharyngeal aspirate/throat swab for RSV PCR

Be sure to rule out HF!

Bronchiolitis Mx (R1)

Mx: self-limiting infection lasting 7-10d

First Line: Supportive Mx (fluids, nutrition, fever control)

Severe: Hospital Referral

• Oxygen if SpO₂ < 90%

• Small frequent feeds/NG hydration

• No bronchodilators or steroids (don’t work)

• No abx (unless secondary bacterial infection)

Note: cough may last up to 6wks

Cx: hypoxia, dehydration, fatigue, resp. failure, Bronchiolitis obliterans (permanent airway damage)

Pneumonia Ix (R1)

Infection of lung parenchyma

Pathogens: Viral = RSV, influ., adenovirus; Bacterial = Strep pneumoniae, Mycoplasma, Staph A, GBS, Chlam

RF: age <12yrs, immunocomp., CF, malnourishment, recent travel

Sx: fever, tachypnoea, cough, crackles (end-insp.), bronchial breathing, ↓ breath sounds, ↑ WOB, focal chest signs, dull percussion, SOB, lethargy, ↓ feeding, cyanosis

• Tachypnoea = 0-5m: >60, 6-12m: >50, >12m: >40

• Mild: normal mental state, mild ↑ WOB, SpO₂ ≥94%, feeding adequate

• Moderate: obvious ↑ WOB, SpO₂ 90–93%, reduced oral intake

• Severe: marked distress, SpO₂ <90%, apnoea, shock, need for respiratory support (HFNP/CPAP/ventilation)

Ix:

First Line/Consider: Bloods (FBE, CRP/ERC), CXR if severe/atypical, Pulse oximetry, US (effusion, empyema)

Gold Standard: nasal swab (viral PCR),Viral serology, sputum microscopy/culture

Investigate for TB/HIV if area is indicated

Pneumonia Mx (R1)

Mx: severe = resus/supportive, chest physio

First Line: Viral = supportive, Bacterial = amoxy first line

For age >2m, viral CAP is most common → supportive

• Mild/Moderate: amoxicillin

• Severe: IV benzylpenicillin ± fluclox/cef/gent

• Resistant/Complicated: cef ± Vanc (MRSA risk)

• Atypical (post-PCR): benpen + Azithromycin

• Aspiration Pneum: Amoxy-Clavulanate (mild) or Amoxy-Sulbactan (mod-severe)

Long Term: GP review 2-3d, Follow-up CXR in 4-6wks (for continued sx, collapse, consolidation, complications)

Prevention: vaccination (pneumococcal, Haem. influ.)

Cx: effusion, empyema, necrotising pneumonia, abscess

Obstructive Sleep Apnoea (R2)

Recurrent/repeated episodes of partial or complete of upper airway obstruction during sleep, disrupting ventilation and sleep quality

RF/Causes: Age 2-7yrs, Adenotonsillar hypertrophy (most common), Obesity, Craniofacial anomalies, Neuromuscular disorders

Sx: Snoring, Witnessed apnoeas (get collateral), Restless sleep, Daytime behavioural issues (learning, concentration), Morning headaches, gasping/choking, hyperextended neck positions, paradoxical breathing

• Physical Sx: septal deviation, enlarged inf. turbinates, macroglossia/large tongue, RV hypert.

Ix: Polysomnography (gold standard), oximetry (O2 drops from 100% to 90-80%)

Mx: Adenotonsillectomy, CPAP (if surgery not effective), Weight Mx, Intranasal steroids (if link to allergic rhinitis)

Cx: school/behavioural issues, failure to thrive, heart strain (cor pulmonale), facial structure changes, resp. distress

Allergic Rhinitis (R2)

IgE‑mediated inflammation of nasal mucosa

Presence of >2 nasal sx: Itching, Rhinorrhoea (nasal discharge), Nasal blockage (obstruction), Sneezing

Common Allergens: house dust mite, grass/tree pollens, animal dander, moulds

RF:

Sx: Sneezing, Rhinorrhoea, Nasal congestion, Itchy nose, Allergic salute/crease, Assoc. conjunctivitis

Ix: Skin Prick Testing, Serum-Specific IgE, Lung Func.

Mx: Allergen avoidance/home environment modifications (air filter etc), Saline Douching

Pharm:

• Oral non‑sedating antihistamines

• Intranasal corticosteroids (INS): most effective (Mometasone furoate, fluticasone propionate)

  • AEs: ↓ growth, cortisol dysf. (excess steroids)

  • Regular dose in morning but use lowest dose

• Montelukast/Leukotriene Receptor Antagonists (LTRA): less preferred than INS/Antihistamines

• Rescue Therapy: Short courses of low-dose oral prednisolone/decongestants for severe sx

• Allergen-Specific Immunotherapy: refractory cases

Cx: Poor sleep, Impaired school performance, Otitis media w effusion, Asthma exacerbation

Tuberculosis (R2)

Pathogens: Mycobacterium tuberculosis

RF: age <5yrs, household contacts, immunocomp., recent migrants, Aboriginal and Torres Strait Islander

Sx: Chronic cough, LOW, Night sweats, Fever, Lymphadenopathy, Failure to thrive

• Sx commonly present 3m after infection

Ix: Mantoux/Tuberculin Skin Test (TST), QuantiFERON-Gold/Interferon Gamma Release Assay (IGRA), CXR, Sputum/gastric aspirates for AFB, Culture

• TST and IGRA are both for Latent TB (not active)

• Active TB dx via clinical, CXR, labs, drug reactivity

Mx: Standard RIPE therapy (rifampicin, isoniazid, pyrazinamide, ethambutol → CI = hepatotixicity)

Cx: TB extrapulmonary diseases (e.g. TB meningitis, Miliary TB, spinal TB)

Septic Arthritis Ix (R1)

Orthopaedic emergency involving infection of the joint space synovial) fluid and tissues

• Most Common: hip and knee, also shoulder, ankle

• Via haematogenous spread, adjacent osteomyelitis, direct inoculation (trauma, surgery)

Pathogens: Staphylococcus aureus (most common), GAS, Kingella kingae (children 4m-4yrs - normal pharyngeal flora), Haemophilus influenzae (unvaccinated children), GBS (neonates)

RF: age <4yrs

Sx: acute onset joint pain, non-weight bearing, fever (>38.5°C), joint held in position of comfort, warmth/swelling of superficial joints

Ix: predictive indicator = Kocher Criteria

First Line: Bloods (WCC, ESR, CRP), XRay (exclude fractures, tumours etc), US (effusion)

Gold Standard: Synovial joint fluid aspiration (cell count, gram stain, cultures/sensitivities, WCC >50 × 10⁹/L)

• May consider lumbar puncture

Rule out acute rheum. fever presenting w monoarthritis

Septic Arthritis Mx (R1)

Mx: Do NOT give abx before synovial fluid is obtained

First Line: Urgent ortho referral, Surgical drainage + lavage (arthroscopy, arthrotomy), immobilise, abx

• Empirical Abx: 1 = Fluclox, 2 = Cephazolin, Vanc

• eTG: gent/tobramycin + benpen/fluclox/vanc

• Staph: IV cefazolin, fluclox ± vanc (MRSA)

• MSSA: IV fluclox; MRSA: IV vanc

• Strep: IV benpen, or ceft, vanc

• Kingella kingae: IV cefazolin, benpen

• Other: IV ceftriaxone, ciprofloxacin, amoxicillin

• Septic arthritis of the hip is an emergency, needing urgent operative drainageto prevent necrosis of the femoral head

Long Term: Orthopaedic follow‑up for ≥2yrs (monitor for sequelae)

Cx: systemic sepsis, cartilage destruction, growth plate damage (limb deformity), avascular necrosis

Osteomyelitis Ix (R1)

Bacterial infection of the bone for <2wks duration

• Often more subacute or insidious/slow developing than septic arthritis

• Usually metaphyseal and located in lower limbs

• Mostly spread haematogenously

Pathogens: Staphyloccoccus (Staph. A, MRSA), Streptococcus (S. pyogenes, S. pneumoniae), Salmonella (in sickle cell), Kingella kingae (<3yrs)

• Up to 55% is culture negative

RF: age <5yrs (highest in infacts <1yr), M>F, minor trauma, immunocomp. (DM, malignancy, HIV, steroid therapy, malnutrition), prematurity, Sickle Cell Disease (commonly w salmonella inf.), indwelling lines

Sx: pain, swelling/erythema, fever, ↓ joint movement (pseudoparalysis), limp/↓ weight bearing

• Infants may be afeb., irritable, refusing to use limb

• Common sites: femur, tibia, long bones, intracapsular metaphyses (hip, shoulder, ankle, ellbow) → ↑ risk concurrent septic arthritis

Ix:

First Line: Bloods (ESR, CRP, WCC, Cultures), XR/CT, US, Bone Scan

Gold Standard: Bone/Joint Aspiration, Cultures, MRI (abscess, pyomyositis, joint effusion)

Osteomyelitis Mx (R1)

Mx:

First Line: abx

• Staph: IV cefazolin, fluclox ± vanc (MRSA)

• MSSA: IV fluclox; MRSA: IV vanc

• Strep: IV benpen, or ceft, vanc

• Kingella kingae: IV cefazolin, benpen

• Other: IV ceftriaxone, ciprofloxacin, amoxicillin

Long Term: surgery only if indicated (failure of medical therapy, large abscess, pelvic/long bone abscess)

Cx: concurrent septic arthritis, Subperiosteal abscess, Pyomyositis, DVT, growth arrest (deformity or limb length discrepancy), chronic osteomyelitis, organ failure

Juvenile Idiopathic Arthritis (R2)

Chronic childhood arthritis with no known cause, defined by ≥6wks of arthritis before age 16

50% achieve remission within 5yrs w early/aggressive tx

Main Subtypes:

1. Oligoarticular JIA: most common, ↑ risk asymp. anterior uveitis

2. Polyarticular JIA (RF– / RF+): affects >4 joints

3. Systemic JIA (SJIA): high risk MAS (macrophage activation syndrome = fever, cytopenias, ↑D‑dimer, ↑LFTs, ↓fibrinogen, falling ESR (red flag)

   • Characterised by: Quotidian Fever (spikes 1-2x/day, Salmon-pink rash and ↑ risk MAS

4. Psoriatic JIA: assoc. w psoriasis, dactylitis (‘sausage digit’) and nail pitting

5. Enthesitis‑Related Arthritis (ERA): inflam of tendons or ligament insertion points (e.g. Achilles)

6. Undifferentiated arthritis

RF: genetics/FHx (HLA-B27), FHx psoriasis

Sx: Morning stiffness ≥15 min (improves w activity), Gelling (stiffness after inactivity), Joint swelling/warmth/↓ ROM, Pain may be minimal/absent in children

Ix:

• First Line: CBC/ESR/CRP (may be normal in oligoarticular JIA), ANA (uveitis), RF (RF+ polyarticular JIA), HLA‑B27 (ERA)

• Gold Standard: Echocardiography (only for SJIA w suspect serositis), US/MRI (synovitis, TMJ disease, hip involvement, erosions)

• Mimic Screen: Septic Arthritis = synovial fluid, neutrophils, ↓ glucose; Malignancy = bone pain, cytopenias, ↑ LDH/uric acid

Mx: early aggressive therapy, aiming for inactive disease and remission → 1= NSAIDs, Steroids; 2= Sulfasalazine, Methotrexate/DMARD; 3= Biologics (Etanercept, Adalimumab)

• Oligoarticular JIA: NSAIDs (ibuprofen), Intra-articular steroids (triamcinolone hexacetonide), Methotrexate/TNF-i (extended disease: ≥3 injections/yr)

• Polyarticular JIA: Methotrexate, Biologics (TNF-i = etanercept, adalimumab; IL‑6-i = tocilizumab), Prednisone

• Systemic JIA: NSAIDs, Steroids, Methotrexate, Biologics (IL‑1-i = anakinra; IL‑6-i = tocilizumab)

  • MAS Tx = Methylpred + Anakinra + Cyclosporine

• Psoriatic JIA/ERA: same as polyarticular JIA

• Uveitis: topical steroids + mydriatics

  • If refractory: methotrexate, adalimumab, infliximab, tocilizumab

Cx: Joint Cx (cartilage loss/joint space narrowing, bone erosions, growth abnormalities/premature fusion, TMJ destruction), Eye Cx (glaucoma, cataracts, blindness), Systemic Cx (MAS, osteopenia/osteoporosis)

Orthopaedic Disorders in Childhood (R2)

1. Osgood-Schlatter Disease

   • Traction apophysitis of tibial tuberosity from quadriceps overuse, post growth spurt, M>F

   • Sx: Anterior knee pain ↑ w activity, tibial tubercle swelling/bump

   • X‑ray: soft‑tissue swelling, tubercle fragments

2. Osteochondritis Dissecans

   • Focal aseptic necrosis of subchondral bone → detachment of bone-cartilage fragment from repetitive trauma/mechanical stress

   • Sx: Activity‑related knee pain w locking/catching, antalgic gait, Preserved ROM

   • X‑ray: subchondral fragment ± radiolucency

   • Unstable SCFE: unable to weight‑bear → ↑ AVN risk

3. Slipped Capital Femoral Epiphysis (SCFE)

   • Posteroinferior displacement of femoral head at growth plate

   • Sx: Hip/groin/thigh/knee pain, limb, ↓ int. rotation/abd., Drehmann sign (ext. rotation during hip flexion)

   • AP pelvis + frog‑leg lateral X‑ray

4. Perthes Disease (Legg-Calvé-Perthes)

   • Idiopathic AVN of the femoral head

   • Sx: ↓ hip abd. + int. rotation, limp, hip/knee pain

   • X‑ray: may be normal early → MRI/bone scan

   • Cx: femoral head deform., early OA

5. Transient Synovitis

   • Benign, self‑limiting post‑viral hip inflam/effusion

   • Sx: hip pain (most common cause in children), afebrile; Hip in ext. rotation, abd., slight flexion

6. Overuse Apophysitis Conditions

   • Osgood–Schlatter: tibial tuberosity

   • Sever’s disease: calcaneal apophysis

   • Sinding–Larsen–Johansson: inferior patella

   • Sx: Activity‑related pain at tendon insertion

7. Toddler’s Fracture

   •  Spiral fracture of tibia in ambulant toddlers

   • Sx: Limp/refusal to walk, minimal trauma

   • X‑ray: may be normal → repeat or oblique views

8. Muscular Disorders Mimicking Orthopaedic Disease

   • Duchenne muscular dystrophy Spinal muscular atrophy

   • Present w limp, gait abnormalities, delayed motor milestones

Febrile Convulsions Ix (R1)

Common paediatric emergency associated with high fever and seizures in children b/w 6m-5yrs

• Simple Febrile Seizure: usually generalised, last <15min, do not recur within 24hrs

• Complex Febrile Seizures: focal onset, last >15min, or recur within 24hrs

RF: age b/w 6m-5yrs, genetics, high fever (>40°C), Viral Infection (HHV-6, influenza), recent immunisation (MMR, DTaP), Recent Inf (Otitis Media, UTI, Gastroent, LRTI)

Sx: seizures and fever (>38°C) in the absence of CNS infection, metabolic abnormalities or Hx afebrile seizures

• Usually Tonic-Clonic Seizure (generalised, rolling eyes, tongue biting, incontinence, shaking/twitch)

Ix: Identify cause of fever

First Line: Clinical Exam (Simple Febrile Seizures do not require diagnostic workup)

Other Screening: Urinalysis/Urine Culture, Bloods (CBC, CRP, UEC, BGL), Imaging (US, XR - find source of infection),

Workup for Complex Seizures: Lumbar Puncture (excl. meningitis/enceph), CT/MRI, EEG

• Exclude herpes encephalitis in Complex Seizures!

Febrile Convulsions Mx (R1)

Mx: identify and address cause of the fever!

Most febrile seizures are spontaneous and do not require treatment

Abortive Therapy (Seizures Persisting >5min or Complex Febrile Seizure): IV Benzodiazepines (1 = Lorazepam, 2 = Diazepam, Midazolam)

Antipyretic Therapy (post-febrile seizure): NSAIDs, Acetaminophen

Long-Term/Prophylaxis: Not needed due to being caused by a rise in temperatures (fever)

Cx: epilepsy (rare - 10% risk), Febrile status epilepticus

• Febrile status epilepticus: subgroup of complex febrile seizure where the seizure duration exceeds 30min, or there are multiple seizures lasting a total of 30min w/out recovery b/w each one

Epilepsy Syndromes - Idiopathic Generalised (R1)

Congenital or Idiopathic; Most common epilepsy form

Epilepsies are stereotyped, intermittent disturbances of behavior or movement resulting from abnormal electrical discharges within the brain

Causes: Infections, Head Trauma, Metabolic Disorders

Childhood Absence Seizure:

• RF: 6-7yrs, M>F; Triggers: hyperventilation, lights

• Sx: Absence Seizures 5-30sec (up to 100x/d) = brief unresponsiveness, amnestic (staring/day-dreaming), Lip smacking/Eye fluttering/Head nod

  • Sudden stop of motion ± minor facial motions

• No postictal phase

• Atypical Absence Seizure: more gradual onset and ending, duration >30sec

• EEG: 3Hz sym. spikes and waves (all brain areas) → ‘wallpaper’

Juvenile Absence Seizure:

• RF: 9-13yrs, M>F

• Sx: Absence/Tonic-Clonic Seizures (T-C on awakening), Photosensitivity (uncommon)

• EEG: Regular 3-4Hz spikes/waves (all brain areas)

Juvenile Myoclonic Seizure (Janz Syndrome):

• RF: 12-20yrs; Triggers: sleep dep., ETOH, lights

• Sx (Seizure Triad): Myoclonic Jerks (bilat. sym., after awakening, no impaired consc.), Generalised Tonic-Clonic Seizures, Absence Seizures (w impaired consciousness)

• EEG: 3-5Hz polyspikes and waves w frontotemporal predominance

Ix:

• First Line/Consider: Bloods (UEC, BGL - rule out metabolic abnormalities), Tox Screen, Blood Cultures, Lumbar Puncture (febrile pts)

• Gold Standard: EEG, Seizure Hx

Mx:

• Childhood Absence: 1 = Ethosuxemide, 2 = Sodium Valproate, 3 = Lamotrigine

• Juvenile Abs/Myo: Valproic Acid, Avoid Triggers

Cx: psychiatric comorbidities, seizure recurrence

Epilepsy Syndromes - Symptomatic/Cryptogenic Generalised (R1)

Congenital or Idiopathic. Sx = structural/metabolic abnormalities; Crypto = unknown eitiology

Causes: Infections, Head Trauma, Metabolic Disorders

Infantile Spasms (West Syndrome):

• RF: 3-7m, M>F

• Causes: perinatal inf., hypoxic-ischemic injury, PKU/Tuberous Sclerosis

• Sx: Sudden Sym./Synchronous Spasms (clusters of 5-10), Jerking Flexion/Extension (‘jackknife movements', ‘fling arms’) of neck/torso/limbs

  • "Crunch-like" movement of the head, knee flexion, appearing frightened, Moro-like reflex

  • Spasms appear in clusters

• Followed by tonic phase

• EEG: hypsarrhythmia (high Delta waves w irreg. multifocal spikes + slow waves)

Lennox-Gastaut Syndrome:

• RF: 3-5yrs

• Causes: structural brain abnormalities, cryptogenic

• Sx: myoclonic/tonic/atonic/absence seizures, developmental delays, frequent Status Epilepticus periods (seizure >5min)

• EEG: multifocal sharp/slow wave, slow spike-wave

Ix:

• First Line/Consider: Bloods (UEC, BGL - rule out metabolic abnormalities), Tox Screen, Blood Cultures, Lumbar Puncture (febrile pts)

• Gold Standard: EEG, Seizure Hx

Mx: do not respond well to antiseizure drugs

• West Synd: ACTH, Prednisalone, Vigabatrin

• L-G Synd: try Anticonvulsants (Valproic Acid, Clobazam, Lamotrigine, Felbamate), Ketogenic Diet, Vagus Nerve Stimulation, Surgery

Cx: developmental delays, motor/cognitive impairments

Epilepsy - Other Forms (R1)

Pediatric vs. Adult Epilepsy: Children differ from adults in seizure behavior, drug metabolism, and specific medication side effects

Broad Categories:

• Focal Fits: Originating from one specific part of the brain

• Generalized Fits: Originating from both hemispheres simultaneously

• Causes: include genetic causes, structural abnormalities, metabolic conditions, unknown causes (increasingly identified as genetic)

• Complex Cases: Conditions like Tuberous Sclerosis (one of the phakomatoses) involve masses within the brain that cause focal fits. May present as generalized epileptic encephalopathy

Focal Discognitive Seizures:

• Sx: Partial interruption of consciousness starting in one part of the brain and potentially spreading

• Occur less frequently than absence seizures but last longer

• Focal Clues:

  • Contralateral signs: Head/eye deviation to the side opposite of the seizure focus

  • Ipsilateral signs: Automatisms (semi-purposeful, repetitive, stereotyped movements) → eye blinking, nose wiping, picking at clothes

Benign Rolandic Epilepsy:

Benign Focal Epilepsy of Childhood/Benign Childhood Epilepsy w Centrotemporal Spikes

• RF: middle childhood

• Sx: Focal fits involving the face and mouth because discharges originate in the Rolandic area, some secondary generalisation

• Most seizures occur overnight

• EEG: Classic centrotemporal spikes, Spikes often flip from the left to the right side

  • In the EEG layout, odd numbers correspond to the left hemisphere, even to the right, and "Z" to the midline

Ensure to differentiate epilepsy from other conditions like night terrors, tick disorders, ritualistic behaviors, simple staring, or pseudo-seizures

Cerebral Palsy Ix (R1)

Non-progressing disorders affecting muscle tone and development of movement/posture. Caused by brain damage/ABI in utero or up to age 3 (hypoxia etc)

Types: Spastic (most common), Ataxic, Dyskinetic

1. Spastic: injury to motor cortex → ↑ Muscle tone

2. Ataxic: cerebellar injury → ↓ balance/coordination

3. Dyskinetic: injury to basal ganglia → involuntary movements, twisting postures

Can have a mixture of spastic/dyskinetic

Functionality can be classified by GMFCS Levels 1-5

RF: prematurity, perinatal cx (chorioamnionitis, TORCH, birth trauma, intracerebral haemorrhage, asphyxia), Postnatal inf. (meningitis/sepsis), placental abruption, Teratogens (warfarin, sodium valproate), Multiparity, thyroid disease, IUGR

Sx: failure to meet milestones, joint contractures, seizure disorder, intellectual disorder, ADHD

• Spastic: spastic paresis (>1 limb), scissor gait, persistent primitive reflexes (pos. babinski), ↑DTR, ↑ Muscle tone, scoliosis, impaired hearing/vision

• Non-Spastic: dyarthria, dyskinetic/abnormal invol. movements (worsen w stress), Ataxic movements (intention tremor, lack of balance/coordination)

Ix:

First Line: Clinical Exam/Hx

Consider: cranial US, MRI (show causative lesions - haemorrhage, brain malformations)

Cerebral Palsy Mx (R1)

Mx: focus on treating contractures (bracing, antisposmodics, physical therapy, surgery), social therapy (speech therapy, social support)

Non-Pharm: Physical Therapy (prevent muscle contractures), OT (motor skill development), Speech Path, Orthotic Devices (braces, splints, casts), Assistive Devices (wheelchairs, walkers), Education Support, Nutrition Support (for dysphagia), Social/Psych Support

Pharm: Antispasmodics for tone (Botulinum, Baclofen, Gabapentin, Dantrolene, Benzodiazepines), Anticonvulsants, Anticholinergics (for rigidity, sialorrhea)

Surgery: ortho surgery (scoliosis, relieve contractures, spasm neurosurg mx/Selective Dorsal Rhizotomy)

Cx: seizure disorders, intellectual disability, impaired sensation/perception, chronic pain, MSK cx

Status Epilepticus (R2)

Seizure lasting >5min or repeated seizures w/out full recovery to normal conscious level between episodes

Neurological emergency

RF: epilepsy, infection, FHx, Intracranial inf., severe metabolic disturbance (hypoglycaemia, E^- dist.), neurological damage, neurosurgery

Sx: Seizure lasting >5min/repeated seizures

Ix: EEG, BGL, UEC, Calcium/Magnesium, Antiepileptic drug (AED) levels, ECG, Neuroimaging

Mx: Resus, Seizure Termination (1 = Midazolam, Diazepam, Lorazepam, 2 = Phenytoin, Phenobarbitone, Levetiracetam, Sodium Valproate)

Cx: seizure becoming refractory (risk ↑ w ↑ seizure duration) → high neurological morbidity and mortality

Migraine (R2)

Condition causing a headache w throbbing pain and other sx (N/V, dizziness, sensitivity to light/sound/smell)

Childhood migraines are more likely to be bilateral than adult migraines

RF/Triggers: FHx, Fatigue, OCP, Certain Foods, Weather, Menstruation, Stress

Sx: Headache (Recurring/Relapsing pattern, Dull/Throbbing, worse on sides), paleness, photophobia (light), phonophobia (sound), N/V, dizziness

• Rare Syndromes: Aura w/out headache, hemiplegic migraine, basilar symptoms (ataxia), ophthalmological migraine, Alice in Wonderland synd. (altered perception of size and movement)

• Childhood Periodic Syndromes: cyclical vomiting and abdominal migraine (recurrent abdominal pain and upset as a migraine prodrome)

• Headache Patterns:

  • Acute/Rapid Escalation: Suggestive of acute raised intracranial pressure

  • Recurring/Relapsing: Suggestive of a migrainous pattern

  • Chronic Daily: Suggestive of intracranial hypertension, tension-type headaches (described as a "band" at the front), or analgesic-overuse headaches

  • Analgesic Withdrawal Headaches: Caused by frequent use of medications like Panadol or Nurofen

Ix: Clinical Exam/Hx (headache pattern)

Mx: NSAIDs (Ibuprofen → for early use), Triptans (for severe attacks), Avoid Trigger, Nutraceuticals (Riboflavin, Coenzyme Q10), Cold Packs/Supportive

Cx: missed school, anxiety, depression, status migrainosus (unbroken attacks lasting over 72hrs), medication overuse headaches (frequent pain relief use)

Duchenne Muscular Dystrophy (R3)

X-linked recessive disease affecting MSK system (most severe form of muscular dystrophy) causing progressive muscle paresis and atrophy

Disease onset usually at age 2-3yrs; Life exp. 30yrs

Rapidly progressing (ambulatory inability by age 12)

RF: Males only, age 2-5yrs, genetic/FHx

Sx: progressive muscle paresis/atrophy (starts proximal LLs/pelvic girdle, extends upwards), ↓ reflexes, ↓ cogn, waddling gait (Duchenne limp) w bilat. Trendelenberg sign, Gower Maneuver (‘walking up’ body), Calf pseudohypertrophy, scoliosis, dilated cardiomyopathy

Ix: Creatine Kinase (↑↑), Serum Aldolase (↑), Genetic analysis (dystrophin gene mutation), Muscle Biopsy (absent dystrophin protein)

Mx: Supportive (physiotherapy, psychology, Ventilation, assistive devices/wheelchair), Glucocorticosteroids (Prednisalone), Eteplirsen (Antisense Oligonucleotide)

Cx: cardiac/resp failure

Spinal Muscular Atrophy (R3)

Autosomal Recessive Motor Neuron Disease caused by apoptosis of lower motor neurons

Typically presents during infancy/early childhood w progressive weakness

Disease severity related to age of onset

RF: M>F

Sx: progressive weakness, hypotonia, muscle atrophy, hyporeflexia/areflexia, bulbar weakness

Ix: genetic testing, muscle biopsy (hypertrophied motor neurons)

Mx: Nusinersen (halts SMA progression), Onasemnogen Abeparvovec (potentially curative gene therapy), Supportive therapy (prevent resp/ortho cx)

Cx: Type 1 SMA (Werdnig-Hoffmann disease) = death within first 2yrs (resp muscle paralysis/asp/ pneum); delayed motor milestones, joint contractures, spinal deformities

Guillain-Barré Syndrome (R3)

Acute immunological demyelinating polyneuropathy where antibodies attack peripheral nerves, causing temporary conduction failure and often triggering muscle weakness/paraesthesia starting in the feet/legs and spreading upward

May be triggered by infection (eg Gastroenteritis, Campylobacter enteritis, Mycoplasma pneumoniae, EBV, CMV, HIV) or vaccination (eg COVID, influenza)

RF: immunocomp., age <10yrs

Sx: rapidly progressing ascending weakness, pain and sensory disturbance (often w/out sensory signs) → starts peripherally w impaired/lost tendon reflexes; autonomic instability (BP, cardiac arrhythmia, urinary retention), ophthalmoplegia, ataxia, areflexia

Ix: CSF (↑ protein → sign of demyelination, ↓ cellular response), Nerve Conduction Study (slowed conduction), Spinal MRI w Contrast (‘spider’ nerve roots)

• Ensure HIV testing

Mx: IV immunoglobulin, plasma exchange, supportive therapy (resp + swallowing function)

• May require ICU transfer

Cx: resp. failure, DVT/Embolism

Gastroenteritis Ix (R1)

Acute diarrhoeal illness, usually infectious, w passage of loose/watery stools, V, fever, abdo pain

Pathogen: Norovirus (most common, spread in schools/daycares), Rotavirus, Salmonella, Shigella, Campylobacter jejuni, E. coli (bloody diarrhoea), C. dif, Giardia (parasite)

RF: childcare facilities/schools, immunocomp., sickle cell disease

Sx: sudden onset watery diarrhoea ± V, acute watery/bloody diarrhoea (dysentery), V, mild fever (>40°C), tachypnoea, malnutrition, abdo pain/dist/guard

Ix:

First Line: stool microscopy/culture, bloods (UEC, glucose, renal function/eGFR)

Gastroenteritis Mx (R1)

Mx: supportive mx

First Line: Oral Rehydration Therapy (ORT), IV fluids, early feeding, Antidiarrhoeals (loperamide), Abx, Ondansetron

Pt should not return to school/nursery until 48hrs since last ep. diarrhoea/V

Cx: dehydration/shock, Haemolytic Uraemic Synd./HUS (acute renal failure, haemolytic anaemia), Toxic megacolon, Acquired/secondary lactose intolerance

Red Flags: bloody diarrhoea, bilious V, severe abdo pain, shock, neuro sx, persistent diarrhoea >14d

Gastro-Oesophageal Reflux/GER Ix (R1)

GER = Physiological Reflux

Invol. passage of gastric contents into the oesophagus

Normal regurgitation or "positing" in babies. Does not require treatment if the baby is thriving and well

• Note: GORD = Pathological Reflux w secondary consequences (sig. irritability/pain after feeding, LOW etc) → only GORD when leads to problems

• 80% of infants experience reflux due to several anatomical factors: liquid diet, lying flat, shorter esophagus, and ↓ Angle of His

RF: infants <3m, prematurity, neurodisability (CP), repaired oesophageal atresia, congenital diaphragmatic hernia, chronic lung disease, hiatus hernia

Sx: FTT, significant irritability, evolving food aversion, assoc. resp. problems (related to aspiration), "Happy spitter", dysphagia, frequent regurg/V, excess hiccups

• Note: Not all vomiting babies have GOR

Ix:

First Line: growth assessment

Gold Standard: Clinical Exam

Consider: Barium Swallow (contrast), Scopes (Upper GI Endoscopy w Biopsies), Oesophageal pH Monitoring (Reflux index >7% = abnormal, 30% = GORD) - Good for acid exposure measurements

Gastro-Oesophageal Reflux/GER Mx (R1)

Mx: Conservative - Most sx resolve by 12-14m of age

• Positioning (holding upright after feeds, cot head elevation), Smaller/Frequent feeds

• Thickened anti-reflux (AR) formulas/Alginates (e.g., Gaviscon)

• Acid suppression: Acid Suppression/H2-Receptor Antagonist (Ranitidine), PPIs (Omeprazole, Nexium)

Cx: failure to thrive/malnutrituon, anaemia, esophagitis, aspiration pneumonia, Recurrent acute otitis media

Coeliac Disease (R2)

Gluten-sensitive autoimmune disease of the small intestine requiring lifelong exclusion of wheat, barley, and rye (not an allergy)

• Immunological responses to an environmental (gliadin) and genetic factors (HLA-DQ2/DQ8)

• Immune system overreacts to gluten, damaging villi lining small intestine → malabsorption

RF: northern european descent, T1D, Thyroid Disease, Down/Turner Syndrome, Other Autoimmune Diseases

Sx: fts of Malabsorption (FTT/LOW, loose stool, steatorrhea, anorexia, abdo pain/distention, muscle waste), Anaemia, GIT Sx, Delayed Puberty, Arthritis, Peripheral Neuropathy, Dermatitis Herpetiformis

Ix: Small Bowel Biopsy!, Anti-Tissue Transglutaminase (tTG-IgA - most sensitive blood test), Anti-endomysial IgA (most specific)

• Biopsy Triad: Subtotal villus atrophy (small, stumpy, or absent villi), Crypt hyperplasia (biopsy appears full of crypts), ↑ intraepithelial lymphocytes

• Histology = crypt hyperplasia + villous atrophy

Mx: gluten free diet, dietary supplementation, iron

Cx: anaemia, osteoporosis, malignancy (Enteropathy-associated T-cell lymphoma/EATL, Non-Hodgkin Lymphoma/NHL), Fertility Issues, Refractory Coeliac Disease (sx persists despite diet)

Infantile Colic (R2)

Excessive/inconsolable crying in first few months of life

May be caused by ↑ gas production in gut, abnormal GIT motility, gut inflammation

RF: infants <6wks, Parental anxiety/depression, Family tension, Inadequate parent-infant interaction

Sx: Recurrent and prolonged periods of infant crying, fussing or irritability with non-obvious causes and cannot be prevented or resolved by caregivers; Crying usually in late afternoon/evening, fist clenching

Ix: diagnosis of exclusion, Rome IV diagnostic criteria, growth monitoring

Mx: Self-limiting (usually resolves within 5m of age), Infant Comfort (rocking, ‘white noise’, warm bath)

DDx: Intussusception or volvulus intestinal obstruction, pyloric stenosis, Incarcerated/strangulated hernia, sepsis, trauma/non-accidental injury, Hydrocephalus, hunger/dehydration, constipation, GER, food allergy

Red Flags: fever, poor feeding, bilious/projectile V, bloody stool, lethargy

Functional Constipation (R2)

Infrequent passage of hard, painful stools without underlying organic cause

Most common cause of acute abdo pain in children

RF:

Sx: infrequent stools, large/hard stools, abdo pain/dist, painful defecation, stool withholding, palpable faecal mass, faecal incontinence/overflow

Ix: Rome IV criteria, Clinical Exam

• Abdo XR has no role in dx of FC in children

Mx: Polyethylene glycol (PEG), Lactulose, Long-term stool softener, Regular toilet sitting, High fiber diet, Behaviour modification

• Neonates: Poloxamer

• Infants >1m: Lactulose, Macrogol (Movicol Jr), Poloxamer

• Children >1yr: Lactulose, Macrogol (Movicol Jr, OsmoLax), Paraffin, Docusate, Poloxamer

• Refractory >1yr (not improving): Bisacodyl (oral or rectally), Senna, Sodium Picosulfate

Cx: Fecal impaction → pelvic floor damage, haemorrhoids, Rectal prolapse, Anal Fissures

Red Flags (consider organic cause): FTT, delayed meconium, neuro sx, abnormal anus, blood w/o fissure

Inflammatory Bowel Disease (R3)

UC: Continuous inflammation limited to the large bowel, typically pw bloody diarrhoea

Crohn's: from the mouth to anus. Includes transmural inflam., granulomas, skip lesions (areas of normality and abnormality)

• Often has systemic features like LOW, growth failure, anaemia (tiredness)

RF: age >6yrs, FHx, Abx use, Processed Foods

Sx: abdo pain, LOW, FTT, diarrhoea (UC = bloody), urgency, tenesmus (UC), arthritis (CD), Uveitis, Erythema nodosum, Delayed puberty

Ix: Fecal Calprotectin (protein marker indicates inflam cause of bloody diarrheoa), Bloods (FBC, CRP/ESR, Iron Study), Scope (Gastroscopy/Colonoscopy)

• Do a stool sample to rule out inf. (esp. in UC)

Mx: Sulfasalazine (DMARD), Corticosteroids (Prednisalone/Hydrocortisone), Methotrexate (Immunomod), Azathioprine (Immunomod), Infliximab (Biologic)

Cx: FTT, delayed puberty, osteoporosis, anaemia, toxic megacolon, GIT damage (strictures, fistulas, abscess)

Cow’s Milk Protein Allergy (R3)

Immune-mediated allergic response to naturally-occurring milk proteins casein and whey

Classifications: IgE-mediated, Non-IgE-mediated, Mixed

• IgE = Type I hypersens.; Non-IgE = T-cell Activity

RF: PMHx/FHx Atopy

Sx: sx worse after formula introduction, blood in stool, failure to thrive, skin reactions (pruritus, erythema, urticaria), Facial Angiooedema, N/V, diar/const, colicky abdo pain, GER, infantile colic, fatigue, U/LRT sx

Ix: IgE Ab bloods/RAST test, Clinical Exam, FBE/other bloods (iron-def anaemia etc), Growth charts

Mx: avoidance of cow’s milk (incl. mother), Extensively hydrolysed or amino acid formula, Dietetic support

Cx: malabsorption, reduced intake → ↓ growth, anaphylaxis

Biliary Atresia (R3)

Progressive fibro-obliterative disease of extrahepatic bile ducts causing neonatal cholestasis

• Obst. progresses from extrahep. biliary tree to intrahep. ducts → jaundice, hepatomegaly

RF: genetics/FHx (HLA-B12), ?viral infection

Sx: prolonged neonatal jaundice (>2wks), pale stool, dark urine, hepatomegaly, poor weight gain, ascites, hepatomegaly

• Suspect in all infants w jaundice ± pale stools after age 14d, or conj. bilirubin ≥17.1micromoles/L

Ix: Bilirubin, LFTs, US (hidden gallbladder), HIDA scan, PT/INR (INR >1.5, PT >14s = Coagulopathy), Liver Biopsy

• Conjugated Bilirubin: ≥17.1 micromoles/L

• LFTs: ↑↑↑ GGT, ↑ ALT, ↑ ALP, ↑ AST,

Mx: Surgery (liver transplant; before 6-8wks old → Kasai portoenterostomy), Vitamin Sups, Nutritional support

Cx: growth failure, portal HTN, cholangitis, ascites

Type 1 Diabetes Ix (R1)

Insulin deficiency caused by autoimmune destruction of pancreatic beta cells (insulin producers)

T1DM = ‘starvation in the midst of plenty’

• Blood glucose levels are ↑ as it cannot be used for metabolism/storage due to an absolute deficiency of insulin (due to autoimmune destruction of pancreatic beta cells)

If a child presents w high blood glucose (BG >25) ± sx, it is a medical emergency until proven otherwise!

RF: FHx (DM, Autoimmunes)

Sx: polyuria, polydipsia, LOW, lethargy, noct. enuresis

• DKA: N/V/dehydration, abdo pain, tachypnoea, Kussmaul breathing, Ketotic breath (‘fruity’), ↓ GCS

Ix: be sure to Ix/rule out sepsis/infection!

First Line: Blood gas (pH <7.3, Bicarb <15mmol/L = DKA), Urine Dipstick (high ketones = red flag!), Bloods (UEC, FBE), ECG

Gold Standard: Blood Glucose (usually >11mmol/L in DKA), HbA1c

Comorbidity Screening: Coeliac disease, Thyroid disease, ?Adrenal/Addison’s disease (if sx)

Type 1 Diabetes Mx (R1)

Mx: continuous glucose monitors, insulin pumps

Acute (DKA): Monitor fluids, potassium, sodium and glucose (SPIDER); Potassium Mx/replacement

Long-Term: Insulin, Dietary Mx/Nutritionist

• Basal-Bolus Inj: basal = long-acting, bolus = rapid

• Continuous Subcut Inf (CSII): pump

• Mixed Insulin Regimen: Rapid/Short + Intermediate

  • Mix: NovoMix, Humalog Mix

  • Rapid-Acting: NovoRapid, Humalog

• Ultra-rapid (Adults): FIASP (not yet approved for paeds)

Cx: retinopathy, neuropathy, nephropathy, delayed growth/puberty

• DKA: cerebral oedema (avoid rapid fluid resus and dramatic E^-/glucose shifts), Hypokalaemia, Aspiration Pneumonia, Hypoglycaemia

Obesity Ix (R1)

BMI: Overweight = 85-95th percentile, Obese = ≥95th percentile, Severe Obesity = Class II or III obesity

• Healthy = 5th-85th percentile

RF: maternal obesity. excess gestational weight gain, maternal smoking, excess calorie intake, physical inactivity/excess screen time, short sleep, FHx

Sx: ↑ BMI, ↓ exercise tolerance

Ix:

Consider: BP, Sleep Study (if OSA sx), HbA1c/Fasting glucose, ALT/AST (NAFLD screen)

Gold Standard: BMI percentile, Lipid profile

Consider Secondary Cause if: poor linear growth, developmental delay, dysmorphic fts (e.g. medications, hypothyroidism, Cushing’s, Growth Hormone def.)

Obesity Mx (R1)

Mx:

First Line: lifestyle (diet, physical activity)

Long-Term: Pharm (Orlistat, Metformin, GLP-1 agonist), Bariatric Surgery

Cx: Cardiometabolic (HTN, dyslipidaemia, insulin resistance, T2DM, metabolic syndrome, NAFLD), OSA, PCOS, ortho issues, psychosocial distress

Growth Hormone Deficiency (R2)

Insufficient secretion of growth hormone from the anterior pituitary leading to impaired linear growth

Growth hormone (GH) also has effects on bone mineral density, body composition, metabolic profile, and QoL

May be linked to pituitary hormone deficiencies

RF: FHx, pituitary hormone deficiencies, CNS tumours/cysts, radiotherapy

Sx: short stature, ↓ growth velocity, delayed bone age, ↑ central adiposity, immature facial features

Ix: Growth Assessment (anthropometry, growth velocity, mid-parental height calculation, bone age evaluation), Bone Age XR, IGF-1/IGFBP-3, GH stimulation testing, Pituitary MRI (if indicated)

• Values of insulin-like growth factor 1 (IGF1) and its binding protein (IGFBP3) of >2 standard deviations

Mx: Recombinan GH therapy (rhGH), Ongoing growth monitoring, Monitor pubertal progression

Cx: stunted/delayed growth/puberty, osteoporosis, GH-linked T2DM, CAD

Thyroid Disorders (R2)

Hyperthyroidism, Hypothyroidism

RF: FHx, PMHx Autoimmune, ↑ iodine intake, smoking, female, prematurity, low birth weight (+ twins)

Causes: Hyper = Graves; Hypo = Thyroid Dysgenesis (congenital), Hashimoto’s, Iodine Def (acquired)

Sx: Weight changes, Temp. intolerance, anxiety, lethargy hyper/hypoactivity, ↓ school performance, goitre, tachy/bradycardia, tremor, constipation

• Thyroid issues can masquerade as pubertal or growth disorders

Ix: Pediatric Thyroid Function Tests (TFTs), TRAbs, Anti-TPO, Anti-Tg Ab/TgAb, US

• Both TSH and Free T4 must be ordered together to identify pituitary-related primary issues that a TSH-only screen might miss

• Abs indicate autoimmune thyroid disease

Hyper = ↓ TSH, ↑ T4; Hypo = ↑ TSH, ↓ T4

Mx:

• Hyperthyroidism: carbimazole, BB, surgery

• Hypothyroidism: levothyroxine

Cx: ↓ school performance, growth changes, thyroid storm, Thyroid eye disease, mpaired neurocognitive development and growth

Protein-Energy Malnutrition (R2)

Undernutrition caused by inadequate calorie intake, absorption or increased metabolic demand resulting in poor growth

RF: Inadequate Intake (neglect, poor feeding habits, improper formula prep, feeding disorders), Malabsorption (coeliac disease, CF, IBD, food allergy), ↑ Calorie Requirements (CHD, chronic lung disease, hyperthyroidism, malignancy)

Sx: Weight-for-height z-score <−2, Declining growth percentiles, Reduced growth velocity

Ix: No specific Ix, FBC, UEC, Coeliac Screen, CRP/ESR

Mx: Behavioural (structured meals, eliminate grazing), Nutritional (calorie enrichment, formula fortification, supplements)

Cx: Frequent infections, hypoglycaemia, hypothermia, shock, HF, developmental delays

Vitamin Deficiencies (R2)

Main Deficiencies: Vitamin D, Iron, Vitamin B12/Folate, Fat-Soluble Vitamins (A,D,E,K)

RF: obesity, limited sun exposure (Vit D), CF, cholestatic liver disease, Malabsorption (fat-solubles)

Sx:

• Vit D: Rickets, bone pain, fractures

• Iron: Pallor, fatigue

• Vit B12/Folate: macrocytic anaemia, neuro sx

Ix: 25-hydroxyvitamin D, Calcium, Phosphate, ALP, PTH, FBE

Mx: Vitamin supplements (D etc), Calcium optimisation

Cx: rickets, soft skull bones, bowed legs, calcium-induced seizures, scurvy, bleed/bruising issues, neuro issues, megaloblastic anemia

Ambiguous Genitalia (R3)

Genital appearance does not allow clear assignment of male or female sex at birth

RF: Genetics (46XY, 46XX, 45XO, mosaicism), Congenital Adrenal Hyperplasia (enzyme blocks adrenal glands = ↓ hydrocortisone/aldosterone, ↑ androgens)

Sx/Exam: is there abnormal or internal anatomy?

• Phallus: more consistent with penis or clitoris? Penile length <2.5 cm in a phenotypic male

• Labioscrotal Folds: Flat (labia), rugose (scrotum)

• Gonads: Palpable gonads? (Only testes are palpable in this region)

• Perineum: One or two openings? (F = urethral and vaginal; M = single urethral opening primarily at the glans)

Ix: Karyotype (46XY, 46XX, 45XO, mosaicism) Electrolytes, 17-hydroxyprogesterone, Testosterone, Cortisol, Pelvic/abdominal US

Mx: Urgent endocrine assessment, Family counselling, Mx adrenal crisis (if present)

Cx: infertility, short stature, gender identity disorder, gonadal malignancy, adrenal crises

UTI Ix (R1)

Infection of the urinary tract. Mostly caused by organisms of the GIT

Lower UTI = bladder (cystitis), urethra; Upper UTI = renal pelvis, kidneys (pyelonephritis)

Pathogens: E. coli! (75%), Klebsiella, Staphylococcus saprophyticus, Proteus, Pseufomonas

RF: age <1yr, F>M (but <3m = M), PMHx, Voiding Dysfunction, Vesicoureteral Reflux, Sexual Abuse, Spinal Abnomalities, Constipation, Immunosuppression

Sx: fever (>38°C), abdo/loin pain, acute dysuria or frequency, V, not tolerating oral feeds, failure to thrive, unsettled/irritable, lethargy

Ix: All infants w unexplained temp >38^oC should have urine sent for microscopy and culture within 24hrs

First Line: Urine Dipstick (leuks, nitrites, blood/protein), Bloods (FBE, UEC, CRP/ESR), US KUB, CT KUB

Gold Standard: Urine Sample (clean catch, urine collection pads)

• Clean Catch Urine (CCU) or In-Out Cath preferred

• MSU for older children w bladder control

• Suprapubic aspirate is considered the gold standard urine collection method but is invasive

Consider US KUB, DMSA, MCUG if atypical or recurrent

UTI Mx (R1)

Mx:

First Line: oral Abx (Trimethoprim, Nitrofurantoin, cephalosporin/Cefalexin, Amoxicillin), Supportive Mx

• First Line (Monash): Cephalosporins or Augmentin; Gent is good but ↑ risk of deafness

• Neonates: treat as acute pyelonephritis = Amoxy + Clavulanate (Augmentin), Cefalexin, Cef, Gent

• Acute Pyelo in Children: IV Gent, Tobramycin

Cx: Renal scarring/damage, HTN, Renal insufficiency or failure (CKD)

Vesico-Ureteric Reflux Ix (R1)

Retrograde flow of urine from the bladder back into the ureters and kidneys (abnormal backwash of urine from   the bladder to the upper urinary tract)

Kidney development depends on the ureteric bud arising from the primitive cloaca. Abnormalities in timing or position lead to hypoplasia, dysplasia, cysts, or obstruction

Types:

• Primary Reflux: Due to embryological bud development in the wrong position

• Secondary Reflux: Often caused by high bladder pressures (e.g., "holding on" to avoid bathroom breaks)

• Grades I-V: I/II = non-dilating (resolve spont.), III-V = dilation, V = intrarenal reflux, severe distention of the entire collecting system

RF: genetics

Sx: usually asmp.; sx of UTI, kidney inflam., bladder dysfunction

Ix:

First Line: US (for screening renal size/swelling, does not exclude reflux)

Gold Standard: Micturating Cystourethrogram/MCUG (dx test, contrast into bladder vizualises reflux)

Consider: DMSA Scan (Dimercaptosuccinic acid identifies renal scars and calculates functional "meat" of each kidney), Radionuclide Cystogram/RNC scan (radioactive material in bladder), Cytoscopy/scope

Vesico-Ureteric Reflux Mx (R1)

Mx: aim to minimise infections

First Line: Observation for low-grade reflux (often resolves by age 5)

Long-Term: long-term Abx (up to 5yrs), Surgery

Surgeries:

• Cohen Reimplantation: Mobilizing and re-stitching the ureter across the bladder wall

• Deflux/Collagen Injection: Minimally invasive, injects material into base of the ureter

• Circumcision: In boys with significant reflux, circumcision can drop infection rates

Cx: UTI, kidney scarring/damage, CKD, HTN, impaired kidney growth

Nephrotic Syndrome Ix (R1)

Glomerular disorder presenting as a triad of: Generalised Oedema, Proteinuria (>200mg/mmol) and Hypoalbuminaemia (<25g/L)

Causes damaged glomerulus to leak proteins (podocytes flatten and leak)

Types: Minimal Change Disease (most common), Congenital Nephrotic Syndromes, Focal Segmental Glomerulosclerosis, Mesangiocapillary glomerulonephritis

RF: Asian ethnicity, M>F, age <4yrs, Varicella Zoster infection (Chicken pox)

Sx: Triad = oedema, proteinuria, hypoalbuminaemia

• Generalised oedema: Periorbital (often mistaken for allergy initially), peripheral, ascites, pleural effusions, scrotal/vulval edema

Ix:

First Line: Urine Dipstick (↑↑ protein: 3+/4+), Urine Protein:Creatinine Ratio (>100mg/mmol), UEC, FBE, Serum Albumin (>25g/dm), Varicella Zoster Serology

Atypical Features: Renal Biopsy, Complement Levels, Hepatitis Serology, Anti-streptolysin O Titre (ASOT), Autoimmune Investigations (ANA, ANCA, anti-dsDNA)

• Consider Renal Biopsy if Atypical: impaired renal function, frank haematuria, age <1yr/>12yrs, HTN, steroid resistance

Nephrotic Syndrome Mx (R1)

Mx:

First Line: High dose Steroids (Prednisalone), Diuretics if Fluid Overloaded, VZV immunoglobulin/IV Acyclovir if VZV positive

• Will usually respond quickly but most will relapse

Long-Term: Low Salt Diet (↓ oedema), Prophylactic Abx (↓ immunoglobulins = ↑ inf. risk), Relapsing Syndromes = low-dose maintenance Steroid Therapy or Immunomod. Drugs (Steroid Sparing Agents = Rituximab, Levamisole, Cyclophsphamide; Calcineurin inhibitors = Ciclosporin, Tacrolimus)

• >1 Relapse = Frequently Relapsing Nephrotic Syndrome or Steroid-Resistant Nephrotic Syndrome (SRNS)

Cx: thrombosis/PE, infection → Spontaneous Bacterial Peritonitis (Strep. pneum.)/cellulitis, fluid overload, CKD

Glomerulonephritis (R2)

Glomerular injury w inflammation

• Haematuria, Proteinuria ± HTN, Oedema and Renal Impairment

Types/Causes:

1. Acute Post-Streptococcal (Post-Infectious) GN

   • Causes: GAS (most common), EBV, CMV, Hep B, endocarditis infection

   • Features: acute nephritic synd., RPGN, Low C3, Normal C4

   • Biopsy: ‘starry sky’

2. IgA Nephropathy (Berger Disease)

   • Causes: mesangial IgA complex deposits

   • Features: Synpharyngitic macroscopic haematuria (haematuria during respiratory infections), Acute/Chronic nephritis, Nephrotic syndrome, RPGN (less common)

   • Biopsy: Mesangial IgA deposition ± C3

3. Henoch-Schönlein Purpura (HSP) Nephritis/IgA Vasculitis

   • Causes: Renal disease w same pathological features as IgA nephropathy

   • Features: haematuria, proteinuria, nephritic syndrome, nephrotic syndrome

   • Biopsy: Similar to IgA nep. w mesangial IgA deposition

4. Membranoproliferative GN (MPGN)

   • Causes: Immune Complex-Mediated = Hep B/C, Autoimmune disease (Lupus etc); Complement-Mediated = C3 nephropathy, Dense Deposit Disease (DDD)

   • Features: Acute/Chronic GN, Nephrotic syndrome, RPGN, Low C3

   • Biopsy: "Tram-track" double-contoured capillary walls, Subendothelial/mesangial deposits

5. Lupus Nephritis

   • Causes: Immune complex deposition in systemic lupus erythematosus (SLE)

   • Features: Acute/Chronic GN, Asymp. urinary abnormalities, Nephrotic synd, RPGN

   • Biopsy: "Full house" staining (IgG, IgA, IgM, C3, C1q)

6. ANCA-Assoc. GN (Pauci-Immune Vasculitis)

   • Causes: Granulomatosis w Polyangiitis (GPA), Microscopic Polyangiitis (MPA), Eosinophilic Granulomatosis w Polyangiitis (Churg-Strauss), Renal-limited vasculitis

   • Features: RPGN, Haematuria, Proteinuria, Acute Nephritis

   • Biopsy: Pauci-immune necrotising GN, Crescents, Minimal immune deposits

7. Anti-GBM Disease (Goodpasture Syndrome)

   • Causes: Abs target type IV collagen in glomerular and alveolar basement membranes

   • Features: RPGN, Pulmonary haemorrhage

   • Biopsy: Crescentic GN, Linear IgG staining along the GBM

8. Membranous Nephropathy

   • Although often presenting as a nephrotic synd rather than nephritic, it is included among important glomerular diseases

   • Causes: Primary (often assoc. w PLA2R Abs), Secondary to SLE, Hep B, malignancy

   • Biopsy: Diffuse GBM thickening, Spike and dome appearance, Granular IgG and C3 along GBM, Subepithelial deposits

RF: recent inf., autoimmune disease, genetics

Sx: macroscopic haematuria, oedema, HTN, proteinuria, renal impairment

Ix: Urine Dipstick, Renal Biopsy, Light Microscopy Histology (does not define disease)

Mx: Supportive therapy (BP control, ACEi/ARB, fluid/salt management), Immunosuppression (steroids, cyclophosphamide, MMF, rituximab), Disease-specific therapy (plasma exchange, complement inhibition, treating infection)

Cx: AKI, CKD, HTN, Fluid Overload/Oedema, Nephrotic Syndrome, Pulmonary Haemorrhage, Thromboembolism

Enuresis (R2)

Bed-wetting

Monosymptomatic Enuresis (MSE): enuresis w/out any other LUTS or Hx of bladder dysfunction

Divided into primary and secondary enuresis

• Primary: sustained night-time dryness has never been achieved

• Secondary: bedwetting after being completely dry overnight for >6m (new-onset sx after a min. 6m period of night-time dryness)

Non-Monosymptomatic: night-time wetting and at least one daytime lower urinary tract sx

RF: age <4yrs (1 in 3 children at this age), FHx, DM, social environment (vulnerability/trauma), ↑ fluid intake

• Daytime bladder control/coordination usually occurs by age 4yrs

• Night-time bladder control is not expected until age 5-7yrs

Sx: bed-wetting, nocturia, ?daytime LUTs (urgency, ↑/↓ voiding freq., incontinence, dysuria)

• Identify pattern of enuresis episodes (including frequency, timing, volume)

• If acute onset (d-wks), consider systemic illness

• Secondary/PHx dryness for >6m = consider possible medical, emotional, or physical triggers

Ix: Bladder/Bowel diary, consider dipstick/microscopy if red flags (DM/polydipsia), bloods if faltering growth

Mx: If enuresis is infrequent ± not distressing to the child/parents, tx is not indicated

• Education/encourage regular fluids and toileting throughout the day

• Bedwetting Alarms (Pad and Bell) → 6-8wks

• Desmopressin (Minirin): short-term improvement, indicated when alarm therapy is unsuccessful/CI

Cx: shame/embarrassment/social anxieties

Otitis Media Ix (R1)

Middle ear inflammation and effusion

Acute Otitis Media: effusion is infected (usually a self-limiting viral infection)

• Bact. Pathogens: Strep. pneum, Haem. influ, Moraxella catarrhalis

Otitis Media w Effusion: effusion is not infected

RF: age <3, Aboriginal/Torres Strait Islander, low socio-ec, Child Care, Allergic Rhinitis, Struct. Abnormalities

• Protective Factors: breastfeeding, avoid supine bottle feeding

Sx: inflammatory sx (pain, bulging/immobile tympanic membrane) + middle ear effusion, otorrhoea (indicates tymp. membrane perforation/effusion), fever, irritability, poor feeding, ear rubbing/tugging

Ix:

First Line: Clinical Exam/Otoscope

• Otitis Media w Effusion: loss of lucency of tymp. membrane + immobile, grey-white or blue fluid

Otitis Media Mx (R1)

Mx: usually self-limiting, sx may persist up to 7d

First Line: pain relief (paracetamol/ibuprofen)

• Abx only for high risk groups (cochlear implants, immunocomp, remote comms, age <2) = Amoxy

Long-Term: grommets (recurrent AOM), Myringotomy

Cx: sepsis/shock, hearing/speech/learning delays, tympanic membrane perforation, chronic ear discharge, mastoiditis, facial nerve palsy, brain abscess

URTI/Tonsillitis/Sinusitis Ix (R1)

Tonsillitis: inflammation of the palatine tonsils from either a bacterial or viral infection (mostly viral)

• May inflame other areas of the mouth → tonsillopharyngitis (pharynx involvement), adenotonsillitis (adenoids involved)

Pathogens: Adenovirus, EBV, GAS (Strep. Pyogenes)

RF: smoke exposure

Sx: odynophagia, fever, ↓ oral intake, halitosis, new onset snoring/apneic eps, SOB, red/inflamed tonsils, white exudate (pus) spots on tonsils, Cervical lymphadenopathy

• Large clearly visible tonsils are not always the result of infection (tonsils largest at age 4-8)

• Sx b/w 5-7d: >7d indicate glandular fever

Ix:

First Line: Bloods (FBC, LFTs, UEC, CRP/ESR)

Gold Standard: Throat swab, RAT

• Throat swabs have limited differential value, may detect S. pyogenes

URTI/Tonsillitis/Sinusitis Mx (R1)

Mx:

First Line: supportive, analgesia, steroids (prednisalone, dexamethasone)

• Abx for GAS: benpen, amoxicillin

Long-Term: surgery (Tonsillectomy - use SIGN criteria)

Cx: peritonsillar abscess/Quinsy, spread to deep neck spaces (retropharyngeal, parapharyngeal) → abscess, recurrent tonsillitis, Post-Strep Cx (glomeruloneph, RF)

DDx: Quinsy/peritonsillar abscess (unilat.w swelling most prominent superior to the tonsil), Pharyngitis (sore throat/dysphagia in the absence of tonsillar inflam.), Glandular Fever (specific viral cause of tonsillitis w longer sx duration and assoc. neck swelling/abdo pain)

Conjunctivitis (R2)

Inflammation of the conjunctiva from viral (most common), bacterial and allergic causes

Conjunctiva: clear membrane covering the white part of the eye and the inside of the eyelids

Pathogens: Adenovirus, Staph. A, Strep. pneum, Haem. influ, Neis. gon/C. trachomatis (neonates)

RF: age <5, contaminated exposure (contact, fluids, water/swimming pools)

Sx: red/’pink’ eye, erythema behind eyes, swollen eyelids, excessive tears/production, yellow-green discharge ± crusting, photophobia, ‘gritty’ sensation, itchiness, eye rubbing, coryzal sx

• Unilat/purulent = bacterial

• Unilat/watery = viral

• Bilat/watery = allergic

• Gonococcal Conj. (N. gonorrhoeae): severe, green discharge, ulceration, risk of blindness/corneal perf.

• Beware Chlamydial Conj (C. trachomatis)

Ix: Clinical Exam, PCR (viral), Culture (bacterial), Consider Allergy testing (allergic conj.)

Mx: Isolate/Keep Home!, Supportive mx

First Line = chloramphenicol, framycetin (drops)

• Viral: conservative mx

• Allergic: antihistamine

• Gonococcal: ceftriaxone, cefotaxime

• Chlamydial: azithromycin

Will remain infectious until discharge resolves

Cx: Corneal Infiltration/Ulceration, chronic conjunctivitis, Orbital Cellulitis/tissue spread, Ophthalmia Neonatorum in neonates (from N gon/C. trach → rapid corneal perforation and blindness)

Cervical Adenitis (R2)

Swelling and inflammation of lymph nodes in the neck, typically from viral (most common) or bacterial infections

Abnormal enlargement of LNs in the head and neck usually >1 cm

Pathogens: Staph. A, Strep. pyogenes, EBV, CMV, Rubella, Mycobacterium tuberculosis, Toxoplasmosis gondii

RF: recent travel (tuberculosis exp.), animal exposure (cats), ↓ vaccination

Sx: neck lump, restricted neck movement, LOW, fever, night sweats, bruising, palpable Lymphadenopathy, Features of deep tisse head/neck infection (trismus, muffled voice)

Ix: Clinical Exam, neck US if suspected abscess, CT, CRP/ESR, serology, CXR (if suspected malig.), Biopsy, Tuberculin skin test/Quantiferon Gold (if TB suspected)

Mx: often self-limiting, abx (Cefalexin, Cefazolin), MCS + incision/drainage (if abscess)

Cx: abscess

Orbital Cellulitis (R2)

Dangerous infection inside the eye socket, usually spread from the ethmoid sinus through the thin lamina papyracea (infection posterior to the orbital septum)

• Different from preseptal cellulitis, which is limited to tissues anterior to the septum

Pathogens: Strep, Staph. A, Anaerobes

RF: sinusitis, trauma, insect bites, skin/eyelid infections

Sx: Red eye, painful eye movements (inability to move the eye full-range), abscess near the optic nerve, opthalmoplegia, proptosis, ↓ vision, RAPD (Relative Afferent Pupillary Defect), Fever/Systemic sx

• Buzzwords: Sinusitis + painful eye movements = think orbital cellulitis

Ix: CT Orbit w Contrast

Mx: surgical drainage, urgent opthal referral, IV abx (ceftriaxone ± metronidazole if sinusitis)

Cx: optic neuritis, optic nerve ischeamia, intracranial cx (meningitis, epidural/subdural abscess, cavernous sinus thrombosis, cerebral asbcess), blindness

Strabismus (R2)

Misalignment of the eyes due to abnormal ocular muscle control

Crossed eyes or squinting eyes

• Esotropia: Eyes turning inward (convergent)

  • Accommodative: most common, long-sightedness (hyperopia) → convergence, required corrective glasses to straighten eyes

  • Congenital: large inward angle, normal spectacle numbers (no glasses), causes dense ambylopia, surgery shifts muscles

  • Sixth Nerve Palsy: Esotropia + Diplopia (double vision) → red flag for brain tumour!

• Exotropia: Eyes turning outward (divergent)

  • Intermittent: common, eye turns out from fatigue/loss of focus, 6/6 vision, cosmetic surgery

• Strabismus: crossed eyes/"squint"

RF: FHx, prematurity, low birth weight, maternal smoking

Sx: diplopia, eye misalignment, abnormal eye movements, visual confusion, intermittent eye closing

Ix: Clinical Exam (neurological and ophthalmic exams), Simultaneous Prism and Cover Test (SPCT)

Mx: surgery, corrective glasses/patch

Cx: ambylopia (lazy eye → early detection of strabismus is important for prevention!)

Retinoblastoma (R3)

Primary malignant tumor of the retina involving the autosomal dominant RB gene (tumor suppressor gene)

Most common intraocular malignancy of childhood

Potentially fatal (spreads to brain)

RF: genetics

Sx: Leukocoria (white pupil reflection → often noticed in flash photography). Strabismus, Ambylopia, painful eye, red eye, poor vision

• A leukocoria is a retinoblastoma until proven otherwise!

Ix: US, MRI, Eye exam under anaesthesia (by opthal), Red Reflex/Slit-Lamp

Mx: Enucleation (removal of affected eye), Chemo, Radiotherapy, Immunotherapy, Frequent screening under anesthesia for at-risk families

Cx: blindness, mets, retinal detachment, glaucoma

Cataract (R3)

Clouding of the crystalline lens causing visual impairment. Congenital or Acquired

• Congenital: congenital rubella, genetics, metabolic disorders

• Acquired: Juvenile Idiopathic Arthritis (JIA)-associated uveitis, Trauma, Steroid Exposure

RF: steroid exposure, rubella, Down Syndrome, FHx

Sx: leukocoria, poor visual development, strabismus, ↓ fixation in infants, constant glare

Ix: Clinical Exam/Opthalmoscope, Slit-Lamp, B-Scan US

Mx: early surgical removal (prevent ambylopia), Intra-Ocular Lens (IOL → lens replacement)

• Mx is dependent on cataract density

Cx: amblyopia (blocked visual input → lazy eye)

Management of the Seriously Ill Child (R1)

Fever:

DDx: Viral infections (most common), bacterial (otitis media, tonsillitis, pneumonia, UTI, meningitis, cellulitis, osteomyelitis), and rarely, malignancy or autoimmune disease

Age-Driven Protocols:

• Neonates (<2wks): Highly susceptible to sepsis. Require a "full septic workup" (Lumbar puncture, blood culture, urine test) and empiric antibiotics regardless of appearance

• Infants (1-3m): "Limited septic workup." A well-looking infant might get blood and urine tests but potentially no antibiotics; a sick-looking infant receives a full workup including Lumbar puncture and abx

• Children (>3m): Selective testing based on whether the child is "sick" vs. "well" and the presence of localized signs

Special Considerations:

• Immunosuppressed/Chemotherapy: Fever in a patient on chemotherapy is treated as priority as neutropenic sepsis. Requires immediate blood cultures, empiric abx, and admission until cultures are negative

• Returned Travelers: Must screen for Malaria (blood film/ICT test), Dengue fever (serology), Typhoid (Salmonella typhi bacteremia via blood culture), and Hep A

Acute Abdo Pain/Appendicitis:

Appendicitis indicators: Constant worsening pain (rather than intermittent/colicky), pain shifting to the right lower quadrant, and severe localized tenderness

DDx in Adolescent Females: Ovarian torsion or severe ovulation pain (requires US for differentiation)

Respiratory Emergencies:

Croup (Laryngotracheobronchitis):

• Inflammation of the larynx, trachea, and proximal bronchi resulting in stridor

• Sx: Tracheal tug, subcostal/intercostal indrawing, and a "seesawing" motion of chest/abdomen

• Mx: Oral steroids (Dexamethasone, Prednisolone) to reduce swelling. Nebulized Adrenaline in severe cases as a rapid topical vasoconstrictor

Bronchiolitis:

• Common in infants >12m

• Characterized by diffuse crackles and wheeze

• Mx: Supportive care only. No specific pharmacological treatment. Includes oxygen therapy and hydration (nasogastric or IV) if the infant is too breathless to feed

Asthma:

• Severity graded as mild, moderate, or severe/life-threatening

• Mx: Inhaled bronchodilators, oral/IV steroids. Severe cases may require BiPAP or PICU admission

• Education: Essential components include spacer technique and a written asthma management plan

Anaphylaxis/Allergic Reactions

Food Allergy (Immune-Mediated): Reactions stimulated by the immune system

• IgE-Mediated: immediate onset (within minutes to 1-2hrs → typically <1hr). Caused by the IgE Ab responding to a specific food

  • Process: Sensitisation/First Exposure → Re-Exposure and Effector Phase → Reaction

• Non-IgE Mediated: Mediated by aberrant T-cell lymphocytes or innate immunity. Sx are delayed (occur >1-2hrs, up to days/wks later)

Ix: Skin Prick Test (SPT), Serum Specific IgE (ELISA), Oral Food Challenge (OFC)

Anaphylaxis: Acute onset of hypotension, bronchospasm, or upper airway obstruction OR skin features (urticaria, angioedema) combined w respiratory, cardiovascular, or severe GI sx

Mx:

• Remove the allergen, DRSABCD

• First Line Mx: Adrenaline

  • Dose: 0.2-0.3ml (based on weight/age), repeated every 5min if needed

  • EpiPen Jr: 150mcg, weight <20kg

  • EpiPen: 300mcg, weight >20kg

• Note: Steroids and antihistamines are not primary treatments for acute anaphylaxis and have no proven effect on the immediate reaction

• Action Plans:

  • Green Plan: mild-moderate allergic reactions

  • Red Plan: for anaphylaxis (includes EpiPen instructions)

Common Fractures (R1)

Common Fractures: Wrist, Forearm (Buckle, Transverse), Supracondylar (elbow), Clavicle, Ankle

Supracondylar Fracture: Type 3 (fully displaced) is an orthopedic emergency as it can compromise the brachial artery, becoming a limb-threatening injury. Usually requires pin fixation and immediate surgery

Analgesia Mx Options:

• Physical: Splinting, ice, elevation

• Pharmacological: Paracetamol, Ibuprofen, Oxycodone

  • Intranasal Fentanyl: Proved equivalent in efficacy to IV Morphine for severe pain from fractures or burns

  • Ketamine: A dissociative anesthetic used for procedural sedation (e.g., straightening a deformed limb or dressing severe burns)

Meningitis Ix (R1)

Inflammation of the meninges surrounding the brain and spinal cord

May be bacterial, viral (aseptic), fungal, or tuberculous

• Bacterial meningitis is a medical emergency requiring immediate treatment

Pathogens: Pneumococcus, Meningococcus/Neisseria meningitidis, Haem influenzae type B; Neonates = E. coli, GBS, Listeria monocytogenes (rare)

RF: age <5yrs, immunocomp/unvaccinated, asplenia (no spleen), maternal GBS, cochlear implant/med device

Sx: Fever, maculopapular non-blanching rash, neck stiffness, irritability, bulging anterior fontanelle, N/V, photophobia, lethargy, seizures, poor feeding, headache, Kernig/Brudzinski signs

• Note: neck stiffness sign is unreliable in age <18m

• Neonates/children <2m often present with nonspecific signs of sepsis rather than the classical signs of meningitis

Ix:

First Line: bloods (CRP/ESR, CBC, UEC)

Gold Standard: CSF/Lumbar Puncture

• Bacterial CSF: Cloudy/turbid, polymorph (neutrophil) predominance (except Listeria → lymphocyte predominant), ↑ protein, ↓ glucose

• Viral CSF: Clear, lymphocyte predominance (polymorphs may appear early), normal protein, normal glucose

• Tuberculosis CSF: opalescent CSF, ↑↑↑ lymphocytes, ↑↑ protein, ↓↓ glucose

Consider: neuroimaging if signs of ↑ intracranial pressure or focal neurological deficits

Meningitis Mx (R1)

Mx: Fever w purpura should be treated as meningococcal disease until proven otherwise

First Line: Immediate IV Abx!, Supportive Care/ICU, Seizure Mx, Consider Dexamethasone

• Abx: Gent/Tobramycin + Benpen/Amoxy/Amp

  • Empirical >2m: Cef/Cefotaxime + Dexamethasone ± Vanc (S. pneum/Cocci)

  • Hos-Acq N/<2yrs: Cefotaxime/Ceft + Vanc

  • Com-Acq N/<2yrs: Gent/Tobr + Cef + Amoxy

• Ensure CSF has been done prior to Abx Mx

Cx:

Acute: Convulsions (often suggesting late presentation), ↑ intracranial pressure, Syndrome of Inappropriate Antidiuretic Hormone (SIADH), cerebral oedema

Long-term: Sensorineural hearing loss (most common measurable cx), ongoing convulsions/epilepsy, motor deficits, neurological sequelae

Sepsis/Septicaemia Ix (R1)

Sepsis: life-threatening organ dysfunction caused by a dysregulated host response to infection

Septicaemia: bloodstream infection

Pathogens: N. meningitidis, Strep. pneum, S. pyo, GBS (neonates), E. coli, Staph infections (Staph. A), HSV (N)

RF: age <3yrs, immunocomp, preterm, indwelling cath, recent trauma/infection

Sx: fever/hypothermia, tachycardia, irritability, poor feeding, lethargy, Hypotension, ↓ GCS, ↓ urine output, mottled skin, petechiae/purpura, shock, ↓ cap. refill

Ix:

First Line: Blood Culture, FBE, CRP/ESR, Urinalysis, Blood Gas/Lactate, Consider Lumbar Puncture

Gold Standard: Culture/Sensitivity Testing

Sepsis/Septicaemia Mx (R1)

Mx:

First Line: Resus, Early IV Abx, Vassopressors (if in shock), Control/Adress Source

Abx: Gent/Tobra, Cefo/Ceft, Vanc

• Neonates: Cefotaxime + Benpen

• Com-Acq (>2m): Gent/Tobra + Cefo/Ceft + Vanc

• Hosp-Acq (>2m): Piptaz + Vanc

• Hosp-Acq (N): Gent/Tobra + Fluclox/Vanc

• Suspected HSV Encephalitis: add Aciclovir

• Suspected Meningitis: add Dexamethasone

• Toxic Shock Synd: Clindamycin + IVIg

Cx: DIC, Multi-organ failure, death, limb loss (meningococcaemia), Toxic Shock Syndrome

• Toxic Shock Syndrome: toxin-producing Strep. pyogenes infection causing hypotension + 2 of: kidney impairment, coagulopathy, resp. distress hyperbilirubinaemia, rash/soft tissue necrosis

Immunisation (R1)

Inactivated Vaccines:

• Contain dead organisms or subunits

• Require more doses for an immune response

• Adverse events occur early

• Includes: Inactivated Polio (IPV), Subunit (Pertussis, Influenza), Toxoid (Diphtheria, Tetanus), Conjugate (Pneumococcal)

Live Attenuated Vaccines:

• Contain weakened whole organisms

• Often require fewer doses and multiply in recipient

• Adverse events often delayed (e.g., MMR fever/rash at 7-10d)

• Recipient may be infectious to others (e.g., Oral Polio)

• Includes: MMR, Varicella, Rotavirus, BCG (Bacillus Calmette-Gurin)

Australian Schedule (Example Highlights):

• Birth: Hepatitis B

• 2, 4, 6 Months: Hexavalent (DTP, Polio, Hep B, Hib), Pneumococcal, Rotavirus

• 12 Months: MMR, MenACWY, Pneumococcal

• 18 Months: MMRV, DTP, Hib (Haem. influ)

• Pregnancy: Funded Pertussis and Influenza vaccines to provide passive protection for the baby in the first 6m

• Annual Influenza: from 6m

• Additional vaccines for Aboriginal and Torres Strait Islander children and special-risk groups

Kawasaki Disease Ix (R1)

Acute systemic medium-vessel vasculitis of childhood

Rare but critical disease that affects coronary arteries → leads to coronary artery aneurysms if left untreated

RF: age <5yrs, Asian ancestry, M>F

Sx: Diagnostic criteria, irritability, sterile pyuria, aseptic meningitis, arthritis, abdo pain, uveitis, diarrhoea

• Diagnostic Criteria: Fever for >5d PLUS 4 of: Bilateral non-purulent conjunctivitis, oral/mucous membrane changes (e.g., strawberry tongue, lip cracking), extremity changes (swelling/erythema, later desquamation), polymorphous rash, cervical lymphadenopathy (>1.5cm → typically unilat)

Ix:

First Line: CRP/ESR, FBE (↑ Neutrophils, Anaemia, Thrombocytosis, Leukocytosis), UEC/LFTs, ECG, Urinalysis, consider Septic Workup (CSF, bloods etc)

Gold Standard: Clinical Exam (Dx Criteria), Echocardiogram (coronary artery lesions)

Kawasaki Disease Mx (R1)

Mx:

First Line: IV Immunoglobulins (IVIG → ↓ aneurysm risk), Aspirin

• Consider corticosteroids (Methylprednisalone, Prednisalone) or biologics

Long-Term: Echocardiogram follow-up

Cx: coronary artery aneurysms

Childhood Viral Infections (R2)

Measles (Rubeola):

Clinical triad: Cough, Coryza, Conjunctivitis

• Plus: Koplik spots, High fever, Descending maculopapular rash

Cx: Pneumonia, Encephalitis, Subacute sclerosing panencephalitis (SSPE)

Prevention: MMR vaccination

Rubella:

Sx: Mild fever, Tender posterior cervical/postauricular lymph nodes, Pink facial rash spreading to trunk

Cx: Major concern is congenital rubella syndrome in pregnancy

Roseola (HHV-6):

Sx:

• High fever for 3-5 days

• Fever resolves then rash appears

• Rash begins on trunk and spreads outward

Cx: Common cause of febrile seizures

Parvovirus B19 (Fifth Disease):

Sx: "Slapped-cheek" rash, Lacy reticular rash on limbs/trunk

Cx: Aplastic crisis, Fetal hydrops

Hand Foot and Mouth Disease:

Pathogens: Coxsackie virus, enterovirus

Sx: Oral ulcers, Vesicles on hands, feet and buttocks

Mx: Usually self-limiting

Cx (rare): Meningitis, Encephalitis

Varicella (Chickenpox):

Sx: Generalised pruritic vesicular rash, Lesions in different stages

Cx: Secondary bacterial infection, Encephalitis, Pneumonia

Preventable by vaccination

Viral Hepatitis: Hep A, B, C (R3)

Hepatitis A:

Transmission: Faecal-oral route, Contaminated food/water, Household spread

Sx: Children often asymp, Fever, Malaise, Jaundice, N

Mx: Supportive only

Prevention: Vaccination recommended for risk groups (incorporated in some Aboriginal and Torres Strait Islander childhood programs)

Hepatitis B:

Transmission: Vertical (mother-to-child), Blood exposure, Sexual transmission

Sx: Usually asymp. in childhood

Cx: Infants are at high risk of chronic infection and later Cx (Cirrhosis, Hepatocellular carcinoma)

Prevention: Birth-dose Hep B vaccine within 24hrs, Routine infant immunisation schedule

Hepatitis C:

Transmission: Vertical, Blood-borne exposure

Sx: Usually asymp in childhood

Cx: Chronic hepatitis, Cirrhosis, Hepatocellular carcinoma

Mx: Direct-acting antiviral agents in eligible children

• Currently no available vaccine

Dengue (R3)

Mosquito-borne flavivirus infection transmitted by Aedes mosquitoes

RF: tropical/subtropical regions (Southeast Asia, Pacific Islands Northern Australia)

Sx:

• Classic Dengue: Sudden high fever, Severe headache, Retro-orbital pain, Myalgia ("break-bone fever"), Arthralgia, Rash

• Warning Signs:, Persistent vomiting, Abdo pain, Mucosal bleeding, Lethargy, Hepatomegaly

• Severe Dengue: Plasma leakage, Shock, Severe bleeding, Organ dysfunction

Ix: FBC (thrombocytopenia), Haematocrit rise, Dengue NS1 antigen/PCR, Serology

Mx: Supportive Mx, Careful fluid Mx, Monitor for shock

• Avoid NSAIDs and aspirin due to bleeding risk

• Use Prevention Measures: mosquito bite avoidance, vector control, selected vaccine in specific endemic areas

Cx: dengue shock syndrome/DSS (Rapid fluid loss from blood vessels causes dangerously low blood pressure and poor blood flow), plasma leakage, severe bleeding/hemorrhage, fluid accumulation (e.g. pleural effusions), single/multi-organ dysfunction (acute liver failure, myocarditis, encephalopathy, AKI)

Iron Deficiency Anaemia Ix (R1)

Inadequate iron stores for haemoglobin synthesis result in nutritional deficiency and anaemia

Most common cause of anaemia in childhood

RF: age >12m + teens, F>M (menstruating), prematurity, LBW, excess intake of cow’s milk (>500ml/d), breastfeeding w/o iron supplements, poor dietary iron intake, adolescent menstruation, vegetarian diet, low socioeconomic status

Sx: often asymp., fatigue, pallor, irritability, ↓ exercise tolerance, ↓ concentration, Pica, ↓ school performance, behavioural/developmental delay

Ix: screen for more sinister causes of anaemia!

First Line: FBE (↓ Hb, ↓ MCV = microcytic, ↑ RDW)

Gold Standard: Iron Studies (↓ Ferritin = most sensitive marker, ↓ serum iron, ↑ transferrin/TIBC)

Iron Deficiency Anaemia Mx (R1)

Mx: treat underlying cause!

First Line: Oral Iron (ferrous sulfate), dietary counselling

Long-Term: Continue iron therapy for ~3m after Hb normalises to replenish stores

Cx: Neurodevelopmental impairment, Learning difficulties, Cognitive/behavioural deficits

Acute Lymphoblastic Leukaemia/ALL Ix (R1)

Malignant clonal proliferation of lymphoid precursor cells within the bone marrow

Most common (25%) childhood cancer. B cell ALL is most common form

Leukaemic Blasts infiltrate bone marrow, blood, liver, LNs, spleen, CNS, testes → bone marrow failure

RF: age 2-5yrs, M>F, genetic abnormalities (Trisomy 21)

Sx: bone pain + pallor, systemic sx

• Bone Marrow Failure: pallor (anaemia), fatigue, bruising, petechiae, mucosal bleed, recurrent inf.

• Infiltrative Sx: bone pain, limp, lymphadenopathy, hepatosplenomegaly, enlarged testicles, CNS sx

• Deficiency in Main 3 Cell Lines = anaemia (lethargy, pallor), thrombocytopaenia (easy bruising/bleeding), leukopaenia (fevers/infections)

Ix:

First Line: FBE (anaemia, thrombocytopenia, abnormal WCC), Peripheral Smear (blasts), CXR (mediastinal mass)

Gold Standard: Bone marrow aspirate/biopsy (>25% lymphoblasts), Flow Cytometry (identify markers)

• Leukoerythroblastic Picture: The presence of nucleated red cells indicates a primary bone marrow pathology (bone marrow failure or infiltration)

Consider: cytogenetics (risk stratification), lumbar punc.

Acute Lymphoblastic Leukaemia/ALL Mx (R1)

Mx: chemo, radiation therapy, CNS prophylaxis, stem cell transplantation (selected pts), blood products

Prognosis: Current cure rates exceed 85-90% in developed countries

Cx: Infertility, avascular necrosis, peripheral neuropathy, anxiety

ITP/Immune Thrombocytopaenic Purprura Ix (R1)

Autoimmune destruction of platelets causing isolated thrombocytopenia, often following viral infection

• Isolated low platelet count of <100 x 10⁹/L in an otherwise well child with an otherwise normal FBE and film

Most common acquired bleeding disorder in children

Persistent ITP = 3-12m; Chronic ITP = >12m

RF: age 2-7yrs, viral inf., recent live virus immunisation (e.g. MMR), FHx autoimmune, recent med changes

Sx: otherwise well child with: petichiae, purpura, easy bruising, epistaxis, gingival bleeding

• Importantly no: hepatosplenomegaly, lymphadenopathy, constitutional sx (otherwise consider leukaemia)

• Typically sudden onset sx

Ix: dx of exclusion!

First Line: Peripheral Smear (normal RBCs/WBCs, may have large platelets)

Gold Standard: FBE (isolated thrombocytopenia = ↓ platelets)

ITP/Immune Thrombocytopaenic Purprura Mx (R1)

Mx: Decision to treat a child is based on clinical fts, not platelet count → majority do not require mx

Goal of mx is to stop active bleeding

First Line: Observational/Conservative Mx

• Significant Bleeding: 1 = Corticosteroids (Prednisalone), 2 = IVIG, Anti-D immunoglobulin

• Epistaxis: oral tranexamic acid

• Life Threatening: thrombopoietin receptor agonists (Romiplostin, Eltrombopag)

Prognosis: ~80% recover within 6-12m, s mall proportion develop chronic ITP

Cx: Chronic ITP, Risk of Intracranial Haemorrhage is very low (<1%)

Lymphoma (R2)

Malignant proliferation of lymphoid tissue

Types:

1. Hodgkin Lymphoma: more common in adolescents, good prognosis (>90% survival)

2. Non-Hodgkin Lymphoma: more common in younger children, aggressive but highly treatable

RF: M>F, older aged children, EBV infection, immunosuppression

Sx: lymphadenopathy (persistent, firm, non-tender, rubbery, enlarging), B Sx (fever, night sweats, LOW), fatigue, pruritus, hepatosplenomegaly, cough/dyspnoea or airway obstruction (from mediastinal mass or SVC obstruction), supraclavicular nodes (SC lymphad. is pathological until proven otherwise!)

• Buzzwords: (left) Indolent Neck Mass (H-L)

Ix: Excisional LN/Large Core Biopsy = gold standard (for flow cytometry), FBE, ↑ LDH, ESR/CRP, CXR (hilum/mediastinal prominence), CT/PET scan

• Note: Needle biopsy is discouraged

Mx: chemotherapy, radiotherapy, immunotherapy

• Consider stenting if SVC compromises airway

• Hydration ± Allopurinol/Rasburicase for tumour lysis syndrome

Cx: tumour lysis syndrome (in lymphomas w rapid cell turnover → ↑ P^3-, K⁺, Ca²⁺ → kidney damage), alopecia, neutropenia, sub-fertility