Neurological Wilson Disease in a Young Brazilian Adult: A Case Report
Keywords:
wilson disease inborn errors in metal metabolism dystonia
Abstract
We report a rare case of Wilson's Disease with neurologic features in a 31-year-old man. This disease consists of a disturbance of copper metabolism secondary to a mutation in the gene responsible for encoding the tissue transporter and the enzyme that incorporates the excess element into bile, generating toxic accumulation in the liver, cornea, and central nervous system. According to his wife, the patient had been treated for an unspecified mood disorder. The clinical picture was characterized by depressive mood, anhedonia, and anxiety. He had his first seizure episode on December 3rd, 2021. He progressed with dysarthria, ataxic gait, dystonia of the right-hand flexor muscles, and intermittent urinary incontinence. Marked worsening was observed after the diagnosis of COVID-19 in February 2022. At the clinical evaluation on March 24th, risorius muscle dystonia (risus sardonicus), resting tremor, and Kayser Fleischer rings at slit-lamp examination was also noted.
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2023-08-02
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