Harran Üniversitesi Tıp Fakültesi Pediatrik Nöroloji BD

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.