Psychiatric Presentation in Wilson disease - Report of Two Cases

Nazariah Aiza H, Aisah AR, Anita C, Yeoh SH, Ng CG


Wilson disease is an inherited metabolic disorder. It is an autosomal recessive disorder caused by mutation of ATP7B gene, which results in excessive accumulation of copper in the body and deposition in various organs. The clinical presentation varies and neuropsychiatric manifestations are common. It is a diagnostic challenge in the initial phase where it mimics other psychiatric conditions and the diagnosis of Wilson disease is based on a combination of laboratory tests and clinical features. Wilson disease treatment comprises of copper chelating therapy such as D-Penicillamine and zinc sulphate wheras the behavior and mood symptoms response well with atypical antipsychotic treatment. The present report illustrates two cases of Wilson disease in middle-aged patients. The first presentation involved changes in behavior and personality. There was some delay in making the diagnosis in the initial stage. Both cases were diagnosed to have Wilson disease after further investigations. Their condition improved with the combination of copper chelating agent and atypical antipsychotic. In conclusion, it emphasizes the awareness of psychiatric manifestations as the initial presentation of Wilson disease.


Wilson disease, Psychiatric manifestation, Atypical antipsychotic, Chelating therapy

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