Wilson’s disease (WD) is an autosomal recessive hereditary metabolic disorder of copper, associated with copper cumulatiom in particular in liver and brain cells. The hepatic form of WD can be manifested as chronic liver disease or as a rapidly progressing fulminant hepatic failure, most frequently in adolescent patients with a predominance of girls (3:2). The authors present a 16-year-old girl with typical clinical symptoms: Coombs negative haemolytic anaemia, hepatic encephalopathy and progressing jaundice. Laboratory examination revealed conjugated hyperbilirubinaemia, only slightly elevated transaminase values and low alkaline phos- phatase values. The diagnosis was supported by extremely high urinary copper excretion (170 mmol/12 h) despite normal ceruloplasmin serum levels and a raised copper serum level, which are as a rule reduced in chronic forms. Because of suspected acute hepatic failure associated with WD the patient was referred to the transplantation centre (IKEM Prague) where a successful transplantation was performed. Rapid estab- lishment of a correct diagnosis is the basis for successful treatment which at present is only acute transplan- tation of the liver.

        Key words: Wilson’s disease – acute hepatic failure – impaired copper metabolism