Wilson's Disease with Neurological Presentation, without Hepatic Involvement in Two Siblings.

نویسندگان

  • Mani Kant Kumar
  • Vijay Kumar
  • Praphul Kumar Singh
چکیده

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.

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عنوان ژورنال:
  • Journal of clinical and diagnostic research : JCDR

دوره 7 7  شماره 

صفحات  -

تاریخ انتشار 2013