Hatice Eke GÜNGÖR, Hasan ÇEÇE, Akın İŞCAN

Glutarik Asidüri Tip 1 Ve İki Taraflı Araknoid Kist Birlikteliği: Vaka Sunumu

Glutarik asidüri tip 1, glutaril-koenzim A dehidrogenaz eksikliğine bağlı olarak gelişen otozomal resesif bir hastalıktır. Glutarik asit ve 3-hidroksiglutarik asit birikimi ile ikincil karnitin eksikliğine neden olur. Çocuklarda özellikle hayatın ilk bir kaç yılı içerisinde ortaya çıkan; hipotoni, makrosefali, motor gerilik, distoni ve diskinezi başlıca klinik bulguları oluşturur. Semptomlar özellikle bazal ganglion tutulumuna bağlanmaktadır. Silvian fissürde genişleme, frontotemporal atrofi ve bazal ganglion tutulumu sıklıkla gözlenen nöroradyolojik bulgulardır. Glutarik asidüri tip 1 tanısı alan vakalarda nadiren temporal loblarda araknoid kistler bildirilmiştir. Bu çalışmada Glutarik asidüri tip 1 tanısı alan iki taraflı araknoid kist saptanan ve bazal ganglion tutulumu olan sekiz aylık kız hasta sunulmuştur

Anahtar Kelimeler:

Glutarik asidüri tip 1, bazal ganglion tutulumu, temporal araknoid kist

Glutaric aciduria type 1 associated with bilateral temporal arachnoid cysts: Case report

Glutaric aciduria type 1 is an autosomal recessive disorder resulting from a deficiency of glutaryl-CoA dehydrogenase. This leads to an accumulation of glutaric and 3-hydroxyglutaric acids and secondary carnitin deficiency. The clinical picture typically shows varying degrees of muscular hypotonia, macrocephaly, motor delay, dystonia, and dyskinesia beginning acutely or gradually in the first few years of childhood. The symptomatology is discussed, especially those resulting from lesion in the basal ganglia. Frequent neuroradiological findings include widened sylvian fissures, frontotemporal volume loss, basal ganglia lesions. Patients with glutaric aciduria type 1 a rare appear to have a bitemporal arachnoid cysts. Here, we present glutaric aciduria type 1 in a 8-month-old girl with bilateral temporal cysts and basal ganglia lesion

Keywords:

Glutaric aciduria type 1, basal ganglia lesion, temporal arachnoid cyst,

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