A 5-week-old full-term infant is brought with yellowish discoloration noticed since 3 weeks of age. Examination shows icterus, dark staining of the nappy, pale clay-coloured stools, and a firm liver palpable 3 cm below the costal margin. Total bilirubin is 11 mg/dL with direct fraction of 7 mg/dL. What is the MOST likely diagnosis?

• A Breast milk jaundice
• B Neonatal hepatitis
• C Hypothyroidism
• D Biliary atresia ✓

Explanation

Conjugated hyperbilirubinaemia with acholic stools, dark urine and a firm hepatomegaly beyond 14 days of life defines obstructive cholestasis, and biliary atresia is the leading cause. It demands urgent evaluation because the Kasai portoenterostomy achieves far better bile drainage when performed before 60 days of age. Breast milk jaundice is unconjugated with pigmented stools, and both neonatal hepatitis and hypothyroidism can cause cholestasis but less characteristically produce complete acholia.

Reference: Nelson Textbook of Pediatrics, 21st ed.

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Written and medically reviewed by the StethoPrep medical team.