Shailendra Kumar Tiwari1, Nutan Singh2
Wilson’s Disease (hepatolenticular degeneration) is a rare, autosomal recessive disorder that can be associated with degenerative changes in the brain, liver disease, and Kayser-Fleischer rings in the cornea. The incidence is 1 in 50000 birth worldwide. It is caused by a mutation in the copper-transporting gene, ATP7B. The diagnosis depends primarily on the clinical features, the biochemical parameters and the presence of the Kayser – Fleischer ring. It is progressive and potentially fatal if untreated; specific effective treatment is available. Here, we are reporting two cases which were affected by Wilson’s disease, with only neurological manifestations, without any hepatic involvement or derangement. We also present here a review of literature on Wilson’s disease.
