Lafora hastalığı
Lafora hastalığı, miyoklonik nöbetler, serebellar ataksi, hızlı ilerleyici demans ve kötü prognoz ile karakterize, progresif myoklonik epilepsi sendromlarının nadir görülen, otozomal resesif bir formudur. Semptomlar, tipik olarak öncesinde motor ve mental gelişim açısından normal olan çocuklarda, 12- 17 yaşlar arasında başlar. Hastalığın tanısı klinik özellikler, elektroensefalografi bulguları, kas ve deri biyopsileri ile konulmaktadır. Çalışmamızda, Lafora hastalığı tanısı konulan, 17 yaşında bayan hasta literatür eşliğinde sunulmuştur.
Lafora disease
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.
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