Edema and Cirrhosis Caused by Wilson's Disease

Figure 1 Kayser-Fleischer ring, copper deposition in Descemet’s membrane, was revealed as a crescent at the top of the cornea (arrow) by ocular slit-lamp examination. A previously healthy 11-year-old boy had puzzling pitting edema of his lower legs for 5 weeks prior to presentation, as well as progressive weight gain (46e52 kg), puffy eyelids, and scrotal edema. Laboratory tests showed severe hypoalbuminemia (1.67 g/dL), absence of urinary protein, and hypertransaminasemia (AST 311 IU/L, ALT 72 IU/L, bilirubin 0.97/0.26 mg/dL). Ocular slit-lamp examination revealed yellowish cloudy crescent Kayser-Fleischer rings at the upper cornea (Figure 1). An axial computed tomography scan of the abdomen demonstrated cirrhotic liver with encapsulated and intraperitoneal ascites (Figure 2). Wilson’s disease with Child’s class C cirrhosis was confirmed by low serum ceruloplasmin (8.65 mg/dL; normal range, 20e35 mg/dL) and high urinary copper excretion (353.8 mg in 24 hours; normal <100 mg). After the penicillamine challenge test, the 24-hour urinary copper significantly increased to 2782 mg. The patient received a low copper diet and chelating therapy with 6 weeks of D-penicillamine, which was followed by trientine dihydrochloride and zinc acetate because of pancytopenia. Normal liver function