An unusual case of Wilson's disease.
A man of 61 with a 26-year history of progressive cerebellar ataxia was admitted to hospital. He was found to have chronic liver disease and died 22 days after admission. A diagnosis of hepatolenticular degeneration (Wilson's disease) was supported by clinical investigations and confirmed at autopsy, when tissue copper studies were performed. Several unusual features were present, including a unilateral Kayser-Fleischer ring, a hepatocellular carcinoma, peripheral neuropathy, pontine demyelination and calcification of neurones in the medulla. The significance of these findings is discussed with a review of the relevant literature.
Madden
J W
JW
Ironside
J W
JW
Triger
D R
DR
Bradshaw
J P
JP
D001921:Brain / Q000473:pathology*; D006528:Carcinoma, Hepatocellular / Q000150:complications; D003300:Copper / Q000032:analysis; D006527:Hepatolenticular Degeneration / Q000150:complications / Q000175:diagnosis / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D008099:Liver / Q000473:pathology*; D008113:Liver Neoplasms / Q000150:complications; D008297:Male; D008875:Middle Aged
D003300:Copper