Glutaric aciduria type I.
CT scan of brain reveals bilateral frontotemporal atrophy, bilateral enlarged sylvian fissures and few hypodensities in the lentiform nuclei. GA is an autosomal recessive inborn error of lysine, hydroxylysine and tryptophan metabolism that results from a deficiency of glutaryl-CoA dehydrogenase.
Common features on neuroimaging include increased spaces anterior to the frontotemporal lobes (vs. frontotemporal atrophy) wide sylvian fissures, (giving a \"bat-wing\" formation) and prominent interhemispheric fissures. There may be diffuse hypodensity of the basal ganglia. A prominent clinical feature of infants and children with glutaric aciduria type 1 is macrocephaly.