Abstract

A CASE REPORT OF WILSON’S DISEASE

Dr. Anusha Ramgalla, Dr. Shourya Shaga, Dr. Vinay Aluri*, Neelam Injeti and Dr. Uma Maheshwara Rao.V

Abstract

Wilson’s disease is due to impairment in the ability of liver to incorporate copper into hepatic ceruloplasmin and to export copper from the liver into bile. This is due to the defective transport of copper by the copper-transporting P-type ATPase secondary to one of several mutations in the ATP7B gene 2519. We conclude that Wilson’s disease is not uncommon in our local population; possibly poor recognition is the cause of it’s under and delayed diagnosis. Wilson’s disease can present in children with isolated neuropsychiatric features without any hepatic manifestation. All young patients, below the age of 40 years, presenting with neurological or psychiatric features as initial manifestations should be thoroughly screened for Wilson’s disease.

Keywords: Wilson’s disease, Ceruloplasmin, Copper, Kayser-Fleischer (Kf) ring.