A RARE PRESENTATION OF WILSON'S AMONG TWO SIBLINGS – A CASE REPORT

Abstract

Wilson's disease (Hepatolenticular degeneration) is an inherited autosomal recessive disorder of copper metabolism that produces neurologic, psychiatric, and liver manifestations, alone or in combination. It is caused by mutations in the ATP7B gene encoding a P-type ATPase on chromosome 13q14.3. Manifestations of Wilson's disease are more likely to be hepatic in early childhood, and neurologic in adolescents and young adults. Neurologic onset usually manifests in the second decade of life with tremor, rigidity and dystonia. Here we are presenting two cases of WILSON'S disease manifesting as NEUROWILSON'S among two siblings of a family born out of secondary consanguineous marriage. Both the patients presented with history of difculty in holding objects and history of tremors of both upper limbs and slurring of speech. Examination revealed a Wing beating tremor, Kayser Fleischer ring on slit lamp examination, low serum copper and low serum ceruloplasmin. Patients were treated with Penicillamine and Zinc acetate, discharged and advised regular follow up.