📋 MOCK OSCE · FCPS, MCPS, MD PAEDIATRICS ⏱ 10 min · NEONATAL CHOLESTASIS

Neonatal Cholestasis · Short Case

Candidate task: perform focused clinical examination on a child with suspected neonatal cholestasis.
Then discuss differential diagnosis, investigations, management & follow‑up.
Pre‑exam Protocol
⏤ · Wash, Warm, Introduce, Position, Expose, Approach ▾

Standard pre‑examination protocol – must be demonstrated:

🖐 Wash hands with sterilizing solution.
🔥 Warm hands and stethoscope.
👋 Introduce yourself to child & parent.
🧍 Position child: standing → sitting → supine.
👕 Exposure — shirt off, trousers rolled.
➡️ Approach from the right side.
✔ CPSP marker: Pre‑exam Protocol is observed and scored.
1. Clinical Examination (≈6 min)
02 General Look (Inspection from end of bed) ▾

Key observations:

  • Jaundice: scleral icterus (greenish/muddy – conjugated), skin yellowing.
  • Nutritional status: muscle wasting, subcutaneous fat loss, edema.
  • Dysmorphic features: Alagille (triangular facies), Zellweger (high forehead, hypotonia).
  • Abdominal contour: distension (ascites), prominent veins.
  • Skin: bruising, scratch marks (pruritus), xanthomas.
  • Activity: lethargy, irritability, poor feeding.
👁 Red flags: greenish sclera + acholic stools + hepatomegaly → biliary atresia.
03 General Physical Exam (Hands → Face → Chest → Limbs) ▾

Systematic examination:

  • Hands: clubbing, leuconychia, palmar erythema, xanthomas.
  • Face: Cushingoid (steroids), cataracts (galactosaemia), Kayser-Fleischer rings (Wilson – rare in neonates).
  • Chest: sternal deformity (rickets – vitamin D deficiency).
  • Abdomen: see next step.
  • Lower limbs: ankle oedema, erythema nodosum.
📏 Anthropometry: weight, length, head circumference – plot growth.
04 Abdominal Examination ▾

Systematic approach:

  • Inspection: distension, visible veins (caput medusae), scars (Kasai, liver transplant).
  • Auscultation: bowel sounds (normal/hyperactive), bruits (hepatic – rare).
  • Palpation: hepatomegaly (firm/hard), splenomegaly (portal hypertension), ascites.
  • Percussion: liver span, shifting dullness (ascites).
  • Rectal: if indicated – haemorrhoids (portal hypertension).
🔍 Key: hepatomegaly + firm liver + splenomegaly + ascites → chronic liver disease.
05 Developmental Assessment & Associated Signs ▾

Assess:

  • Neurological: hypotonia (Zellweger), seizures (hypoglycaemia, metabolic), irritability.
  • Eyes: cataracts (galactosaemia), chorioretinitis (TORCH).
  • Oral: thrush (immunodeficiency).
  • Growth: failure to thrive, delayed milestones.
🧠 Metabolic clues: hypoglycaemia + hepatomegaly + cataracts → galactosaemia.

📋 Case Presentation – (fill in during exam)

This is a _____-week-old _____ infant, brought with _____ (jaundice / pale stools / poor feeding). On examination, the infant appears _____ (well/unwell/lethargic), with _____ (scleral icterus / pallor / oedema). There is _____ (hepatomegaly / splenomegaly / ascites). Stool colour: _____ (acholic/pigmented). Urine: _____ (dark/normal). Growth parameters: weight _____ percentile, length _____ percentile. Additional findings: _____ (dysmorphic features / cataracts / bruising).

2. Viva Discussion (≈4 min)
06 Viva · Differential, Investigations, Management, Follow‑up ▾
🔹 Differential Diagnosis

• Biliary atresia (extrahepatic – most common)
• Idiopathic neonatal hepatitis (INH)
• Choledochal cyst (extrahepatic – type I most common)
• Alagille syndrome (intrahepatic duct paucity)
• PFIC (Byler disease – types 1, 2, 3)
• α₁-Antitrypsin deficiency (PiZZ)
• Galactosaemia (metabolic)
• Tyrosinaemia (type I)
• Cystic fibrosis (meconium ileus)
• TORCH infections (CMV, toxoplasmosis, rubella)
• Neonatal hemochromatosis (gestational alloimmune)
• Hypothyroidism (prolonged jaundice)
• Sepsis / UTI (bacterial cholestasis)
• TPN-associated cholestasis (prematurity)

🔹 Investigations – Diagnosis

• LFTs: total & split bilirubin, ALT, AST, ALP, GGT
• Synthetic function: albumin, PT/INR, BSL
• USG abdomen: triangular cord sign, gallbladder, choledochal cyst
• Hepatobiliary scintigraphy: uptake vs excretion
• Liver biopsy: bile duct proliferation (BA) vs giant cells (INH)
• Intraoperative cholangiogram: gold standard for BA

🔹 Investigations – Aetiology

• Galactosaemia: Clinitest +ve, Clinistix –ve; GALT enzyme
• Tyrosinaemia: succinyl acetone in urine
• α₁-AT: Pi phenotype (PiZZ)
• PFIC: serum bile acids, GGT (low in types 1 & 2)
• Alagille: JAG1 mutation, butterfly vertebrae
• TORCH: IgM titres, urine PCR
• CF: sweat chloride, gene mutation
• Hypothyroidism: TSH, free T4

🔹 Investigations – Exclude Others

• Sepsis: blood culture, urine C/E, CRP
• CMV/HSV: PCR, viral culture
• Metabolic: urine reducing substances, amino acids, organic acids
• Haematologic: CBC, Coombs test (haemolysis)
• Drug-induced: TPN, maternal medications

🔹 Investigations – Rule Out Complications

• Portal hypertension: oesophagogastroduodenoscopy (varices)
• Ascites: diagnostic paracentesis (SAAG, culture)
• Encephalopathy: ammonia, EEG
• Coagulopathy: PT/INR, vitamin K response
• Hepatocellular carcinoma: AFP, ultrasound/MRI
• Renal: creatinine, urea (hepatorenal syndrome)

🔹 Management – Across Organ Systems

Nutrition

High-calorie (120–150% RDA), MCT oil (bile-independent absorption), fat-soluble vitamins (10× RDA for A, D, E, K), calcium, zinc, phosphate.

Pruritus

Ursodeoxycholic acid (15–30 mg/kg/day), cholestyramine, rifampicin, phenobarbitone, diphenhydramine.

Ascites

Salt restriction (<2 mmol/kg/day), spironolactone ± furosemide, salt-poor albumin, therapeutic paracentesis.

Portal hypertension / Varices

Propranolol (non-selective β-blocker), endoscopic band ligation/sclerotherapy, TIPSS if refractory.

Coagulopathy

Vitamin K (IV/IM 2.5–5 mg), FFP/cryoprecipitate for active bleeding, platelet transfusion if hypersplenism.

Infection

Prophylactic antibiotics (cholangitis), spontaneous bacterial peritonitis (SBP) – 3rd gen cephalosporin + albumin.

Surgical

Kasai procedure (hepato-porto-enterostomy) if biliary atresia – success >90% if done <8 weeks.

Liver Transplantation

Definitive for biliary atresia, PFIC, tyrosinaemia, Alagille, neonatal hemochromatosis – survival ~80–90%.

📈 Prognosis

  • Biliary atresia: 5-year native liver survival ~30–50% after Kasai; post-transplant ~80–90%.
  • INH: 60–70% self-healing; rest may progress to cirrhosis.
  • α₁-AT: 10–15% develop cirrhosis; transplantation curative.
  • PFIC: progressive; many require biliary diversion or transplantation.
  • Alagille: ~20–25% mortality from cardiac/liver disease.
  • Zellweger: fatal by 6–12 months.
  • Galactosaemia: excellent with lactose-free diet; cataract prevention.

📋 Follow‑up Schedule

  • Monthly: weight, LFTs, PT/INR, albumin (in unstable patients).
  • 3–6 monthly: growth, fat-soluble vitamins, renal function.
  • Annually: ultrasound + AFP (HCC surveillance).
  • Endoscopy: variceal screening at diagnosis and every 1–2 years.
  • Developmental: regular neurodevelopmental assessment.
💡 Examiner expectation: logical differential (extrahepatic vs intrahepatic vs metabolic), systematic investigation (diagnosis → aetiology → exclude others → complications), and a management plan covering all systems. Know the success rates of Kasai and transplantation, and the natural history of common aetiologies.
📚 Visit paeds.online for more CPSP resources
Mock OSCE · Neonatal Cholestasis · Based on Wyne‑Harris, Nelson & Pediatric Clinical Advisor