Hepatocerebral Dystrophy

a disease characterized by degeneration of the liver and brain. It was first described in 1883 by the German physician C. Westphal, who called it pseudosclerosis. In 1912 it was named hepatolenticular degeneration by the English physician S. Wilson. The Soviet physician N. V. Konovalov demonstrated that pseudosclerosis and hepatolenticular degeneration were the same disease and proposed the name “hepatocerebral dystrophy.”

Hepatocerebral dystrophy is classified as a hereditary disease; it often afflicts several children in a family in which the parents do not suffer from the disease. (In such cases, distant ancestors had the disease.) The patients develop cirrhosis of the liver and focuses of malacia, particularly in the subcortical ganglia and the cerebral cortex. Severe protein and copper metabolism disorder is typical, involving low blood levels of the copper-containing protein ceruloplasmin, free copper, and prothrombin and excessive excretion of copper and amino acids with the urine. The tissues—especially in the liver and brain—contain substantial deposits of copper, which have a toxic effect and impair the activity of various organs.

Hepatocerebral dystrophy occurs primarily in children and young people. The patients develop hepatitis, jaundice, hemorrhagic diathesis, and digestive disorders. The symptoms of lesions of the nervous system appear much later and are manifested by motor disorders (tremors of the extremities, head, and trunk, increased muscle tonus, sluggish movements, stiffness, sometimes involuntary weeping and laughter, paralysis, and in some cases, epileptic seizures). Many patients develop psychic disorders. A typical symptom of the disease is the appearance of a ring of greenish brown pigment (copper) around the cornea. The disease progresses inexorably.

Treatment involves systematic use of thiol preparations —unithiol and penicillamine, which increase the excretion of copper with urine. The diet should spare the liver. The members of a family that includes individuals suffering from hepatocerebral dystrophy should be kept under special medical observation in a clinic.