Open AccessWilson’s Disease with Neurological Presentation, without Hepatic Involvement in Two Siblings
Author(s) -
Mani Kant Kumar,
Vijay Kumar,
Praphul Kumar Singh
Publication year - 2013
Publication title -
journal of clinical and diagnostic research
Language(s) - English
Resource type - Journals
eISSN - 2249-782X
pISSN - 0973-709X
DOI - 10.7860/jcdr/2013/5974.3188
Subject(s) - copper metabolism , wilson's disease , disease , presentation (obstetrics) , fleischer , medicine , mutation , case presentation , gene mutation , gastroenterology , pathology , pediatrics , gene , surgery , biology , genetics , copper , chemistry , philosophy , linguistics , organic chemistry , german
Wilson's Disease (WD) is a rare, autosomal, recessive, inborn error of the copper metabolism, which is caused by a mutation in the copper-transporting gene, ATP7B. The presentation is usually neurologic or hepatic, which is seen in 40% of the patients. The diagnosis depends primarily on the clinical features, the biochemical parameters and the presence of the Kayser - Fleischer ring. Here, we are reporting two siblings who were affected by Wilson's disease, with only neurological manifestations, without any hepatic involvement.