Wilson's Disease

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Abstract
The biochemical defect in Wilson''s disease is present at birth, and in a high proportion of cases the earliest clinical signs of the disease appear in childhood, although their significance is not always recognized at the time. A sister and brother with the disease are described. The former had an attack of jaundice five years before she presented with the typical picture of Wilson''s disease. She was treated with penicillamine (0.45-1.2 g. per day), a low copper diet and potassium sulphide over a period of four years, with an excellent clinical response. Minor clinical relapses were shown to be due to inadequate doses of penicillamine. The second child was diagnosed biochemically at the age of 6 when there was no other evidence of disease. Three years later no obvious symptoms or classical signs had developed, but there was evidence of liver damage, electroencephalo-graphic changes and accumulation of copper. Many independent lines of evidence thus supported the diagnosis of Wilson''s disease in an active but silent form, and the patient is symptomless after six months of penicillamine treatment. Copper clearances were a better indication of sensitivity to penicillamine than were the 24-hour copper excretion figures. In the first case the best index of long-term response to treatment was the basal copper excretion, measured on urines collected when the patient had received no penicillamine for five days. The difficulties of diagnosis in asymptomatic siblings of cases of Wilson''s disease are discussed.