Deniz KOR, Gülen MERT, Şakir ALTUNBAŞAK, Neslihan Ö. MUNGAN, Faruk İNCECİK, Şeyda BESEN, Özlem M. HERGÜNER, Berna S. YILMAZ

Epilepsy and McArdle Disease in a Child

McArdle hastalığı, çizgili kasta glikojen fosforilaz enziminin eksikliği sonucu gelişen, otozomal resesif kalitim gösteren bir hastalık olarak tanımlanmaktadır. Hastalar genellikle çabuk yorulma ve egzersiz sonrası güçsüzlük ile birlikte, kas krampları, ağrı ve azalmış egzersiz toleransından yakınırlar. Uzun süreli efor sonrası kontraktür, rabdomiyoliz ve miyoglobinüri oluşabilir. Merkezi sinir sistemi belirtileri McArdle hastalığında nadiren bildirilmiştir. Burada, epilepsi ve McArdle hastalığı olan 13 yaşındaki bir çocuk sunulmuştur.

Bir Çocukta Epilepsi ve McArdle Hastalığı

McArdle's disease, defined by the lack of functional glycogen phosphorylase in striated muscle, is inherited as an autosomal recessive trait. Patients typically suffer from reduced exercise tolerance, with muscle cramps and pain provoked by exercise, along with easy fatigability and weakness after exercise. Following prolonged exertion, contractures, rhabdomyolysis, and myoglobinuria may occur. Central nervous system symptoms have rarely been reported in McArdle disease.In this case report, a 13-year-old boy with epilepsy and McArdle's disease is presented.

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