Familial Hepatic Copper Storage Disease: A Variant of Wilsons's Disease

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Abstract
A child is described with cirrhosis of the liver and brief reference made to 2 siblings who had died of the same condition. No neurological disturbance or Kayser-Fleischer rings w.ere found in any of these children. Serum ceruloplasmin and Cu levels were reduced in the patient to levels found in Wilson''s disease, but urinary Cu excretion was normal and Cu deposition in the liver considerably greater than that found in classical Wilson''s disease. The patient is improving on D-penicillamine treatment.