All issues > Volume 30(2); 1987

Original Article

J Korean Pediatr Soc. 1987;30(2):201-206. Published online February 28, 1987.

A Case of Wilson's Disease.

Hee Joo Jeon¹, Yong Joon Kim¹, Hi Joo Park¹, Chan Yung Kim¹, Jong Woo Shin¹

¹Department of Pediatrics, College of Medicine, Pusan National University

Abstract

Department of Pediatrics, College of Medicine, Pusan National University Wilson’s disease is due to excessive accumulation of copper in the liver, brain, kidneys and cornea caused by a defect in biliary excretion. The classic presentation of Wilson’s disease is the triad of neurologic abnormalities, Kayser- Fleischer ring and cirrhosis associated with low serum copper and ceruloplasmin levels. The case, 12-year-old boy, suffered from jaundice, abdominal distension and gait disturbance. His elder brother died from neurologic disease at 14 years old age and elder sister died from liver cirrhosis at 9 years old age. Laboratory findings revealed low serum copper and ceruloplasmin levels and increased urinary copper excretion. We reviewed literatures briefly and presented this case.

Keywords :Wilson’s disease, Kayser-Fleischer ring, Copper, D-penicillamine.