Abstract
Two cases of hepatic Wilson's disease in siblings were reported. Case 1. A 14-year-old girl was admitted because of icterus, ascites and secondary ammenorrhea. Slit lamp examination showed Kayser-Fleischer's ring. Hypocupremia, hypoceruloplasminemia, and panaminoaciduria were present. Urinary copper excretion was increased. Clinical stage was Deiss' IIB and Dobyns' IIBI. She died of hepatic coma and autopsy showed the liver cirrhosis. Hepatic copper concentration was 623, ug/g dry weight. Case 2. A 12-year-old younger sister of case 1 was asymptomatic but found to have the same disease in family study. Kayser-Fleischer's ring was absent, but hypertransam-inasemia, hypocupremia and hypoceruloplasminemia were seen. Urinary copper content was increased. Peritoneoscopy showed yellowish liver. Its surface was smooth but the brown reticular pattern was seen all over the liver. These areas were thought to cor-respond to the hepatic lobules. The microscopic examination of biopsy specimen disclosed fatty degeneration and fibrous expansion of Gllison's sheath but glycogen nuclei were absent. Hepatic copper concentration was 1235Icg/g dry weight. Clinical stage was Deiss' I and Dobyns' I or IIA. She was placed on D--penicillamine and diet therapy with eventual improvement of liver function tests.
