Indian Journal of Private Psychiatry (Jun 2022)
Atypical Psychiatric Manifestation of Primary Wilson's Disease: A Case Report
Abstract
Background: Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism. It is associated with ATP7B gene mutations, present on chromosome 13. It is primarily a liver disease, but presentation varies according to copper deposition in various organs. The diagnosis depends on clinical features, Kayser–Fleischer rings, biochemical parameters, radiological findings, liver biopsy, and gene analysis. Case: We report an atypical presentation of WD, where the patient presented with only psychiatric manifestations with two episodes of mania with duration of 3 years to evolve from psychiatric manifestations to neurological and hepatic manifestations of WD. Conclusion: A high index of suspicion is required, and early recognition of atypical presentation and initiation of the treatment can prevent a catastrophic outcome.
Keywords