title: Wilson's Disease with Neurological Presentation, without Hepatic Involvement in Two Siblings.
abstract: Wilson's Disease (WD) is a rare, autosomal, recessive, inborn error of the copper metabolism, which is caused by a mutation in the copper-transporting gene, ATP7B. The presentation is usually neurologic or hepatic, which is seen in 40% of the patients. The diagnosis depends primarily on the clinical features, the biochemical parameters and the presence of the Kayser - Fleischer ring. Here, we are reporting two siblings who were affected by Wilson's disease, with only neurological manifestations, without any hepatic involvement.
authors.affiliation: Assistant Professor, Department of Pediatrics.
authors.forename: Mani Kant
authors.initials: MK
authors.lastname: Kumar
authors.forename: Vijay
authors.initials: V
authors.lastname: Kumar
authors.forename: Praphul Kumar
authors.initials: PK
authors.lastname: Singh
keywords: ATP7B; Dystonia; Kayser – Fleischer ring; Wilson’s Disease