کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
8280716 1535142 2012 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Should we think of Urbach-Wiethe disease in refractory epilepsy? Case report and review of the literature
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی سالمندی
پیش نمایش صفحه اول مقاله
Should we think of Urbach-Wiethe disease in refractory epilepsy? Case report and review of the literature
چکیده انگلیسی
Urbach-Wiethe disease (UWD) is an autosomal recessive disease characterized by both neurological and dermatological manifestations. Face specially eyelids are commonly involved. Alopecia, nail dystrophy and dental anomalies have been reported as less frequent symptoms. Some patients show evidences of epilepsy and psychiatric symptoms such as schizophrenia, mood disorders, and anxiety due to calcium deposits in different parts of the brain. In this report, we describe the case of a young woman affected by UWD presenting with neurological involvements and no dermatological manifestations. This patient is a unique case of UWD as she has partial seizures and hoarseness. Also we summarize relevant data from the literature.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 320, Issues 1–2, 15 September 2012, Pages 149-152
نویسندگان
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