Neuropsychiatric manifestations of Wilson's disease.

BACKGROUND: Wilson’s disease is a rare autosomal recessive disorder of copper metabolism, characterized by copper accumulation in many tissues, especially in the liver and the brain. PATHOPHYSIOLOGY: In the brain, pathological changes mainly involve the basal ganglia, explaining the high prevalence of movement disorders and psychiatric symptoms in Wilson’s disease patients. DIAGNOSIS: Neuropsychiatric symptoms usually appear at around 20 years of age, but the age of presentation range is very broad. Brain magnetic resonance imaging may detect intensity signal abnormalities in the basal ganglia, thalamus and/or brainstem in Wilson’s disease patients with or without neuropsychiatric symptoms. TREATMENT: Neuro-Wilson’s disease treatment includes medications leading to negative copper body balance, as well as drugs for symptomatic treatment of neuropsychiatric symptoms. CONCLUSION: Wilson’s disease includes a wide spectrum of phenotypic presentations, thus making diagnosis difficult. Since neuropsychiatric symptoms may represent the first clinical manifestation of Wilson’s disease, early diagnosis is essential to start prompt treatment.