Lafora disease
Journal Title: Ege Tıp Dergisi - Year 2017, Vol 56, Issue 1
Abstract
Lafora disease is a rare, autosomal recessive form of progressive myoclonic epilepsy, characterized by myclonic seizures, cerebellar ataxia, rapidly progressive dementia and poor prognosis. The symptoms typically start between the ages of 12 and 17 years in a previously normal mental and motor developing child. The diagnosis is made by clinical signs, electroencephalographic findings and muscle and skin biopsies. In our case a 17-year- old woman who was diagnosed as Lafora disease presented in light of the literatüre.
Authors and Affiliations
Yusuf Ehi, Hatice Özlece, İnan Gezgin, Yasemen Adalı, Ürfettin Hüseyinoğlu
Keywords
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- EP ID EP336983
- DOI 10.19161/etd.344296
- Views 109
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