Abstract
Wilson disease is a rare autosomal recessive metabolic disorder leading to tissue copper accumulation and hepatic and brain damage. Dysfunctional ATP7B gene prevents copper excretion from hepatocytes and copper incorporation into ceruloplasmin.
Clinical features of the neuropsychiatric form of Wilson disease are variable and it should be considered in case of any extrapyramidal, cerebellar or psychiatric disorder manifested between 3-55 years, namely in case of hepatal disorder history. Most common symptoms are tremor, dysarthria, depression, but also parkinsonism, ataxia, dystonia and cognitive decline.
Diagnosis is based on the presence of characteristic symptoms: Kayser-Fleischer ring, typical brain magnetic resonance abnormalities, low blood ceruloplasmin, high urine 24-hours copper excretion, free serum copper and dry-weight liver copper content. Genetic examination is also very heplful.
Diagnosis and treatment initiation should not be delayed, since there is a risk of irreversible liver and brain damage. Treatment is based on maintaining a negative copper balance.
Chelation therapy with penicillamine and zinc therapy leading to decreased copper absorption is the mainstay of Wilson disease treatment.