Author/Authors :
ehi, yusuf kafkas üniversitesi - tıp fakültesi - nöroloji anabilim dalı, Türkiye , özlece, hatice köse edirne devlet hastanesi - nöroloji kliniği, Türkiye , gezgin, inan kafkas üniversitesi - tıp fakültesi - nöroşirürji anabilim dalı, Türkiye , adalı, yasemen kafkas üniversitesi - tıp fakültesi - patoloji anabilim dalı, Türkiye , hüseyinoğlu, ürfettin kafkas üniversitesi - tıp fakültesi - anesteziyoloji ve reanimasyon anabilim dalı, Türkiye
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.
