Wilson's disease with psychiatric manifestations case report

Abstract

Background: In the context of Wilson\'s disease, characterized by copper accumulation leading to organ dysfunction, a high prevalence of neuropsychiatric involvement is observed. This is primarily manifested as extrapyramidal and cerebellar signs, including tremor, dystonia, and ataxia. While less frequent, presentations with psychotic symptomatology, encompassing delusions and hallucinations, have been documented in the literature. Case Presentation: This case report describes a juvenile male diagnosed with Wilson\'s disease exhibiting the development of psychotic symptomatology. He was a 13-year-old boy presented with visual and auditory hallucinations and sleep disturbance. Remarkable findings before the onset of these symptoms were dangerous behavior and angry outburst. Extensive investigations, including cerebrospinal fluid, autoimmune panel and serum copper level assessment, were performed. A key finding was elevated urinary copper chelation, complemented by sonographic confirmation of hepatomegaly on abdominal imaging provided sufficient evidence for the gastroenterology team, involved since admission, to diagnose Wilson\'s disease. Prompt initiation of penicillamine therapy was subsequently recommended. Conclusion: Wilson\'s disease with neuropsychiatric symptoms primacy exhibited a temporal dissociation from hepatic involvement, resulting in extended diagnostic intervals and, consequently, a higher risk of irreversible neurological compromise relative to hepatic onset presentations. Prompt diagnosis, facilitated by proactive consideration of atypical manifestations, is essential to mitigate neurologic sequelae.