Wilson Disease Diagnosis — RACP Paediatrics MCQ

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HardGastroenterologyWilson Disease DiagnosisRACP Paediatrics

A 7-year-old presents with acute hepatitis (ALT 1200, AST 900). He has Kayser-Fleischer rings on slit-lamp examination. Ceruloplasmin is low and 24-hour urinary copper is elevated. What is the diagnosis?

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Correct answer: D — Wilson disease

Wilson disease: autosomal recessive copper metabolism disorder (ATP7B mutations). Presents with hepatic disease (acute hepatitis, chronic liver disease, fulminant hepatic failure), neuropsychiatric symptoms (in older children/adolescents), and Kayser-Fleischer rings. Low ceruloplasmin and elevated urinary copper. Treatment is penicillamine or trientine (copper chelators) and zinc.

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