Rare presentation of neurometabolic disorder (Wilson’s disease)

A case report and review of literature

Abstract

Introduction: Wilson's disease (WD) is a disorder of copper metabolism leading to the accumulation of this metal in different organs. Hepatic manifestations tend to occur in the first decade and neurological symptoms in the third decade. Neurological manifestations are said to worsen with chelation therapy. Case report: A 16-year-old male presented to our institution with recurrent episodes of seizures since last 3 months despite being on multiple anti-epileptic medications. Patient eventually progressed to having problems while moving all his four limbs which further progressed to speech arrest and extraocular muscle palsy. MRI scan confirmed typical features of Neurometabolic disorder. Metabolic parameters like Ceruloplasmin level were also evidently low. Conclusion: Wilson’s disease is an inherited metabolic disorder. Early diagnosis and appropriate management help to prevent the systemic complications. Siblings needed to be screened to prevent manifestations. It also points out the need to suspect Wilson’s disease in any young patient presented with the unexplained liver disease.