Bilateral temporal arachnoid cysts and glutaric aciduria type 1 Case Report

Abstract

Glutaric aciduria type 1 is a rare metabolic disease and an inborn error of lysine hydroxylysine and tryptophan metabolism caused by deficiency of glutaryl coenzyme A dehydrogenase The clinical picture typically shows varying degrees of muscular hypotonia motor delay dystonia and dyskinesia beginning acutely or gradually in the first few years of life in often macrocephalic children Patients with glutaric aciduria type 1 appear to have a bitemporal arachnoid cysts Here we present glutaric aciduria type 1 in a 6 month old boy with bilateral temporal cysts and macrocephaly Turk Arch Ped 2008; 43: 102 4 Key words: Glutaric aciduria type 1 temporal arachnoid cyst macrocephaly

Keywords

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İki taraflı temporal araknoid kistler ve glütarik asidüri tip 1 Olgu Sunumu

Öz

Glütarik asidüri tip1 glütaril koenzim A dehidrogenaz eksikliğine bağlı olarak lizin hidroksilizin ve triptofan metabolizmasının bozulması sonucunda ortaya çıkan ender görülen metabolik hastalıktır Erken dönemde belirlenen makrosefali hayatın ilk bir kaç yılı içerisinde ortaya çıkan akut veya zaman içerisinde gelişen hipotoni motor gerilik distoni ve diskinezinin varlığı ile belirgindir Glütarik asidüri tip1 hastalarında klinik bulgulara eşlik eden temporal yerleşimli araknoid kistler bildirilmiştir Glütarik asidüri tip1 tanısı alan temporal araknoid kistleri ve makrosefalisi bulunan altı aylık erkek hasta sunulmuştur Türk Ped Arş 2008; 43: 102 4 Anahtar kelimeler: Glütarik asidüri tip 1 temporal araknoid kist makrosefali

Anahtar Kelimeler

• Glütarik asidüri tip 1, temporal araknoid kist, makrosefali

Kaynakça

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