Neuroradiological findings in glutaric aciduria type I: report of four Japanese patients.

摘要: We examined neuroradiological computerized tomography (CT) findings and the clinical course of four Japanese children with glutaric aciduria type I (GA1) whose enzyme activity glutaryl-CoA dehydrogenase was undetectable. Brain CT in all cases showed low density white matter, fluid collection bilateral frontotemporal regions (particularly surrounding Sylvian fissures), enlargement lateral ventricles slight atrophy basal ganglia. Although these seemed to be characteristic for GA1, they were unlikely more extended, at least over 2 years after infancy. The matter observed evidently neonatal or early infantile periods than later periods. degree fissures about appeared correlate severity symptoms such as dystonia choreoathetosis. Magnetic resonance images (MRI) one case linear-shaped intensity areas external capsules putamen on a T1-weighted image. These MRI findings, well choreoathetosis dystonia, may suggest that metabolic abnormalities glutaconate, are toxic extrapyramidal tract system central nervous system, patients attributable useful diagnosis evaluation GA1 patients.