A case report of Wilson's disease.
Wilson's disease (hepatolenticuler degeneration), an inborn error of copper metabolism, is an autosomal recessive disorder characterized by degenerative changes in brain, liver disease and Kayser Fleisher (KF) rings in the cornea. It is due to a defect of p-type ATPase which is probably required for normal extrusion of copper from cells. In this case report, we present a seven and half year old male who presented with complaints of slurring of speech, drooling of saliva, intentional tremor and dark pigmentation over face and trunk for last 9 months. On examination KF ring was present, spleen was palpable and intentional tremor was present. Laboratory investigations confirmed the diagnosis.
Manandhar
Kusum
K
Kathmandu Medical College, Sinamangal, Kathmandu, Nepal.
Manandhar
D S
DS
D002648:Child; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000378:metabolism; D006801:Humans; D008297:Male