Hepatolenticular degeneration, an autosomal recessive disorder of copper metabolism, is characterized by triad of cirrhosis, neurologic manifestations and Kayser-Fleischer rings. Hepatomegaly, due to excessive accumulation of copper, is the earliest manifestation.
Splenomegaly, jaundice and anorexia follow it. Edema, ascites or gastrointestinal bleeding occur sooner or later. neurologic manifestations include proximal tremors of outstretched arms and wrists (wing beating tremors), dysarthria and dystonia at an advantage stage. Serum copper and ceruloplasmin levels are reduced whereas liver tissue copper exceeds 400 mcg/g dry weight. Therapy consists in giving a chelating agent, pencillamine, and low copper diet. This has greatly improved prognosis of this fatal disease.