An Unusual Case of Wilson's Disease

作者：John W. Madden, James W. Ironside, D. R. Triger, J. P. P. BRADSHAW · 发表于：QJM · 年份：1985 · DOI：10.1093/oxfordjournals.qjmed.a067855 · 被引用次数：40 · 研究领域：Trace Elements in Health、Neurological diseases and metabolism、Metabolism and Genetic Disorders

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.