Unusual presentation of Wilson’s disease in a child: a diagnostic dilemma to the clinicians

Abstract

Wilson's disease, also known as hepatolenticular degeneration, is a rare familial disorder inherited as an autosomal recessive trait with inborn error of copper metabolism leading to toxic accumulation of copper in the body particularly the liver, brain, cornea and kidney. In children, Wilson's disease (WD) presents more often with hepatic manifestations. After the age of 20 years, 75% of cases present with neurological manifestations and 25% with both hepatic and neuropsychiatric manifestations. We present a rare unusual presentation of Wilson disease in 12 year male child who presented with neuropsychiatric manifestation without hepatic involvement.