Abstract
A 17-year-old girl was referred for jaundice and severe liver failure (international normalized ratio, 2.4; Factor V 19%, and total bilirubin level, 85 μmol/L). Transaminase and serum GGT levels were slightly elevated. There was hemolytic anemia with a negative Coombs test and thrombocytopenia. The liver was dysmorphic with splenomegaly. There was no viral hepatitis; the IgG level reached 21 g/L without autoantibodies. Her urinary copper level was 1779 μg/24 hours (N < 0.6), ceruloplasmin level was 0.12 g/L (N > 0.2), and a high exchangeable copper to total copper ratio (23.4%; N < 8.0) and hepatic copper level (844 μg/g) supported the diagnosis of Wilson's disease.
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