Wilson's Disease: A Rare Case Report in Western Maharashtra

Copper is an essential trace element, utilized as a cofactor by numerous enzymes regulating vital cellular functions. The importance of copper for normal cell metabolism is best illustrated by the existence of genetic disorders, in which the normal distribution of copper is disrupted. Wilson's disease (WD) is a genetic disease of copper toxicity. It is also known as hepatolenticular degeneration and is an autosomal recessive inherited disorder of abnormal copper metabolism resulting from the absence or dysfunction of a copper-transporting. The disease is mainly seen in children, adolescents and young adults and is characterized by hepatobiliary, neurologic, psychiatric, and ophthalmologic Kayser-Fleischer (KF) rings manifestations. WD can be a lethal disease if left untreated. We present here a case report of WD in 12 year old child.