Wilson's disease in two siblings--one with fatal outcome

The clinical and biochemical findings in two siblings with Wilson's disease are described. One of them, an 11-year-old girl, developed acute liver failure terminating in death within a few weeks. Prior to her terminal illness she had been in good health without symptoms suggestive of Wilson's disease. Copper contents of urine, liver, kidney and brain were 20-100 times above the upper normal limits. The liver showed extensive micronodular cirrhosis with nonbile pigment deposits. Her 15-year-old brother had abnormal liver function tests with urinary copper excretion 20 times above the upper normal limit. Treatment with penicillamine was started. Following a short period of deterioration his condition has steadily improved.