Wilson Disease in Children - a Rare but Treatable Autosomal Recessive Metabolic Disorder

Abstract

Wilson's disease (WD) is a rare autosomal recessive inborn error of copper metabolism caused by a mutation to the copper-transporting gene ATP7B. The presentation is usually neurologic or hepatic, seen in 40% of patients. Diagnosis depends primarily on clinical features, biochemical parameters and the presence of the Kayser-Fleischer ring. Here a case of Wilson disease with various neurological manifestations without any clinical involvement of the liver and clinical presentation , diagnosis and treatment is discussed.