Epilepsy and McArdle Disease in a Child

Year 2015, Volume: 40 Number: Supplement 1, 5 - 7, 08.10.2015

Faruk İncecik , Özlem Hergüner Gülen Mert Şeyda Besen Deniz Kor Berna Yılmaz Neslihan Mungan Şakir Altunbaşak

https://doi.org/10.17826/cutf.72331

Abstract

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.

Keywords

McArdle’s disease, epilepsy, coexistence

Bir Çocukta Epilepsi ve McArdle Hastalığı

Abstract

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

Keywords

McArdle hastalığı, epilepsi, birliktelik

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