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Wilson Disease — RACP Paediatrics MCQ

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HardGastroenterologyWilson DiseaseRACP Paediatrics

An 8-year-old girl presents with a 2-week history of hepatomegaly, jaundice, and elevated transaminases (ALT 1200 U/L). She has a Coombs-positive haemolytic anaemia and a low serum caeruloplasmin level. 24-hour urinary copper is markedly elevated. What is the most likely diagnosis?

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Correct answer: E — Wilson disease

Wilson disease presents with liver disease (often in childhood/adolescence), neuropsychiatric features, Coombs-positive haemolytic anaemia, low serum caeruloplasmin, and elevated urinary copper. Kayser-Fleischer rings on slit-lamp examination support the diagnosis. Management includes copper chelation therapy (penicillamine or trientine) and zinc supplementation. Liver transplant may be required in fulminant disease.

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: Wilson Disease