Abstract

Abstract Wilson disease is a rare genetic autosomal recessive disorder of Copper metabolism associated with ATP 7B gene on Chromosome 13, that often manifests in the form of hepatic dysfunction in earlier stages and neuropsychiatric manifestations in later stages with evidence Kayser Fleischer ring. Early diagnosis of Wilson disease hold a prognostic value and delay in diagnosis of WD or atypical presentations adds complexities or challenges in diagnosis. We report a middle aged female who presented with neuropsychiatric symptoms for six years with mild hepatic dysfunction undergone evaluation and diagnosed as Wilson disease based on scoring system. Interestingly our case does not have Kayser Fleischer ring, which is Pathognomic of Wilson disease. More than one century after the first description of Wilson disease by Sir K. Wilson, understanding and management of Wilson disease have improved but challenges in diagnosis of atypical presentation of Wilson disease makes delay in diagnosis and thereby affecting the prognosis. In case of atypical presentation we can use Scoring system to diagnose Wilson disease.

Key Points