AYŞE GÜLER, A. GÖKÇAY, G. KANDİLOĞLU, Ö. E. ÖZBAY, H. KARASOY

Juvenil myoklonik epilepsi kliniği ile prezente olan lafora hastalığı

Lafora Hastalığı Progressif Myoklonik Epilepsi olgularının %10 kadarını oluşturmaktadır. Sıklıkla 10-18 yaş arası ortaya çıkan ve otozomal resessif olarak kalıtılan bu hastalık, her iki cinside eşit olarak etkilemektedir. İlk semptomları sıklıkla myoklonik, tonik-klonik, atonik ya da absans nöbetleridir. Olgu: 17 yaşına kadar herhangi bir yakınması olmayan hasta yeni başlangıçlı myoklonik nöbetler nedeni ile kliniğe başvurdu. Juvenil Myoklonik Epilepsi tanısı ile izlenirken zaman içinde değişik tipte nöbetleri ortaya çıkan ve kognitif etkilenmesi gelişen hastada patolojik ve genetik incelemeler sonucu Lafora hastalığı saptandı. Yorum: Bu yazıda Juvenil Myoklonik Epilepsi kliniği ile prezente olan, patolojik inceleme ve genetik analiz ile de tanısı doğrulanan bir Lafora hastalığı olgusu literatür eşliğinde tartışılmıştır.

Lafora disease presented with juvenile myoclonic epilepsy clinical features

Lafora disease accounts for %10 of patients with Progressive Myoclonic Epilepsy. Lafora disease frequently develops 10-18 years of age and tranmission is autosomal recessive. Males and females are equally affected. The first symptoms are usually myoclonic, tonic-clonic, atonic or absence seizures. Case: The patient who had no complaints until 17 years old was admitted to the clinic with incipient myoclonic seizures. While the patient followed up with Juvenile Myoclonic Epilepsy diagnosis in the course of time different seizute types and cognitive impairment developed. With pathological and genetic analysis Lafora disease confirmed. Conclusion: This paper, accompanied by cases in literature, is about a patient presented as juvenile myoclonic epilepsy, who had Lafora disease and the diagnosis confirmed with pathological and genetic analysis.

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