Wilson's Disease with Neurological Presentation, without Hepatic Involvement in Two Siblings.
نویسندگان
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.
منابع مشابه
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ورودعنوان ژورنال:
- Journal of clinical and diagnostic research : JCDR
دوره 7 7 شماره
صفحات -
تاریخ انتشار 2013