A  Clinical Study of 24 Patients with Wilson's Disease

J Korean Neurol Assoc > Volume 5(2); 1987 > Article

Journal of the Korean Neurological Association 1987;5(2): 171-180.

Wilson's Disease 24예에 대한 임상연구

김재우, 명호진

서울대학교 신경과.

A Clinical Study of 24 Patients with Wilson's Disease

Jae-Woo Kim, M.D., Ho-Jin Myung, M.D.

Department of Neurology, College of Medicine, Seoul National University

Abstract

Wilson's disease is an autosomal recessive abnormality in the hepatic excretion of copper that results in toxic accumulation of the metal in liver, brain, and other organs. Twenty four patients with Wilson's disease were studied with regard to clinical and laboratory abnormalities. All patients studied were limited to those having definite Kayser-Fleischer rings. The results were as follows: 1. They were aged between 4 to 36 (mean 14.3). 2. The mean age (17.6) of 15 patients primarily with neurologic manifestations was higher than that (9.5) of 8 patients with hepatic manifestations. 3. Dysarthria was the most frequent among neurologic signs while edema and ascites among hepatic signs. 4. Hypoceruloplasminemia and hypercuprinuria were present in 23 patients (95.8%) and hypocuprinemia in 16 patients (66.7%). 5. Seventeen patients (70.8%) showed thrombocytopenia, and 13 patients (53.2%) leukopenia and prolonged prothrombin time. 6. Among 8 improved patients, 7 presented primarily with neurologic manifestations, and one with hepatic manifestations. All 4 patients that expired presented primarily with hepatic manifestations and showed rapid progression.