Clinical Features

The disease is transmitted as an autosomal recessive trait and can occur from childhood through adolescence. Cardinal clinical manifestations are hepatic, neurologic, and psychiatric. Acute or chronic hepatitis and liver cirrhosis are common. During the course of the disease, splenomegaly, kidney dysfunction, and clotting abnormalities develop.

Neurologic manifestations are predominantly extrapyramidal: rigidity, dysarthria, dystonia, parkinsonian features, tremor, and choreiform and athetoid dyskine-sias. Psychiatric manifestations include behavioral changes, schizophrenic-like symptoms, and memory and cognitive decline progressing to dementia. The presence of a Kayser-Fleischer ring, a diagnostic ocular sign, resulting from copper deposits in the Descemet membrane, appears as a greenish-brown ring in the limbus cornea. Diagnostic laboratory findings are low levels of ceruloplasmin and of total copper in the serum and increased urinary excretion of copper. In biopsied liver, the copper is greatly increased. T2-weighted MRI images reveal hyperintense lesions in the striatum, globus palli-dus, and thalamus.

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