Olgu bildirisi

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