Severe generalized dystonia in paediatric onset wilsons disease

ABSTRACT

Wilson disease (WD) is a rare autosomal recessive disorder with defect in copper transport mechanism with varied clinical manifestation predominantly hepatic, neurological, ophthalmological and multi-systemic involvement. WD in paediatrics' age group manifest differently from the adults.' In this case report, Authors have' described the first case report presenting with neurological involvement in the form of severe generalized dystonia in a paediatric onset WD. This case report is of greater significance in detecting the most often undetected paediatric WD presenting with a usual hepatic manifestation occurring early in the course.