A rare presentation of Wilson disease: a case report

Abstract

Wilson Disease results from autosomal recessive mutation in ATP7B gene which leads to reduced formation of ceruloplasmin protein in the body that acts as a copper transporter. Due to its deficiency, there is the build-up of copper in the liver and brain among other organ systems and it leads to the development of various clinical abnormalities but commonly presents either as hepatic dysfunction and/or cirrhosis in young patients with movement disorder. Here we present a case that presented with hypoglycemia and hypothermia in absence of any infection, drug abuse or metabolic abnormality. He was later diagnosed as Wilson disease. Wilson Disease is mostly thought of hepatic /neurological disease. Contrary to this Wilson’s disease is a multisystem disease affecting multiple organ system including, kidneys, endocrine system and musculoskeletal system and can present with manifestations of above-mentioned systems.