Lafora Disease: Report of a Rare Entity

Younis Al Mufargi, Asim Qureshi, Abdullah Al Asmi

نتاج البحث: المساهمة في مجلةArticleمراجعة النظراء


Lafora disease is a rare, genetic, glycogen metabolism disorder inherited as autosomal recessive characterized by the presence of inclusion bodies, known as Lafora bodies, within the cytoplasm of the cells in the heart, liver, muscle, and skin. Lafora disease presents as a neurodegenerative disorder that causes impairment in the development of cerebral cortical neurons. We present here a case of Lafora disease that presented with progressive myoclonus epilepsy (PME) and investigated at our center. She was diagnosed to have Lafora disease with typical histological findings on skin biopsy and was found to be positive for the pathogenic mutation on genetic testing.

اللغة الأصليةEnglish
الصفحات (من إلى)e6793
مستوى الصوت12
رقم الإصدار1
المعرِّفات الرقمية للأشياء
حالة النشرPublished - يناير 28 2020

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