Atypical manifestations of Wilson — Konovalov disease (clinical case) | Ukrainian Medical Journal

Wilson’s disease is a rare genetic disorder that should be considered in the differential diagnosis if the patient has neurological, psychiatric and/or hepatic manifestations. The most common manifestations of liver damage in Wilson’s disease are slowly progressive liver failure with cirrhosis, ascites, varicose veins of the esophagus, splenomegaly. Symptoms of nervous system damage are often nonspecific and include behavioral, personality, and cognitive impairment, less often tremor, dysarthria, and dysphonia. The article considers modern aspects of etiology, pathogenesis, clinic, diagnosis of Wilson’s disease, as well as our own clinical observation of the case of newly detected hepatolenticular degeneration in a 29-year-old patient. This clinical case is interesting for the lesion of the brain stem (bridge) on the background of a typical lesion of the basal ganglia.

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