All issues > Volume 29(3); 1986

Case Report

J Korean Pediatr Soc. 1986;29(3):336-341. Published online March 31, 1986.

Two Cases of Wilson's Disease.

Myung Ho Kang¹, Byoung Tae Kim¹, Jae Ock Park¹, Sang Jhoo Lee¹

¹Department of Pediatrics, College of Medicine, Soon Chun Hyang University

Abstract

The authors experienced two cases of hepatic from of Wilson* s disease, which diagnosis were confirmed by family history, their characteristic clinical manifestations with hepatic symptoms, Kayser-Fleischer ring and laboratory data with decreased serum ceruloplasmin and copper level and increased urine copper excretion. Case 1： An 8 8/12 year-old boy with chief complaints of abdominal distension and jaundice showed Kayser-Fleischer ring on the corneal margin of both eyes. The laboratory findings showed low level of serum ceruloplasmin(3.0 mg%) and high level of urine copper excretion(945.5 ug/day). Of the three siblings, a 4-year-old younger sister showed 3.5 mg% of serum ceruloplasmin, 149.7 ug/day of urine copper excretion and a 2-year-old younger brother showed 103.0 unit of SGOT, 125.5 unit of SGPT, 6.8 mg% of serum ceruloplasmin, 22.8ug/day of urine copper excretion. The patient was given 500 mg of D-penicillamine and low copper diet with improvement of clinical and laboratory findings. Case 2- A 13 11/12-year-old boy with chief complaints of abdominal distension and painful mass on left upper abdomen showed icteric sclerae, Kayser-Fleischer ring, splenomegaly and pitting edema on the lower extremities. The laboratory findings showed low level of serum ceruloplasmin(7.0 mg%) and serum copper(43 ug%) and high level of urine copper excretion (327.7 ug/day). Splenoportography revealed portal hypertesion(438 mmH20), marked collateral circulation (paraumbilical vein, superior & inferior mesenteric vein, coronary and esophageal veins) and small size of liver and liver biopsy findings revealed active macro and micro-nodular cirrhosis. After splenectomy with splenorenal shunt operation, 250 mg of D-penicillamine 4 times daily and low copper diet were given, resulting in clinical improvement. The authors presented two cases of Wilson’s disease and reviewed the referential literatures.

Keywords :Wilson’s disease; Kayser-Fleischer ring; ceruloplasmin; Copper; D-penicillamine