title: L-2-Hydroxyglutaric aciduria: MRI in seven cases.
abstract: The MRI findings in 7 patients with L-2-Hydroxyglutaric aciduria (L-2-OHG aciduria) are described and compared with previous neuroradiological reports and the only three published pathological cases. Signal abnormalities involved peripheral subcortical white matter, basal ganglia and dentate nuclei. Cerebellar atrophy was present. Although similar appearances may be seen in other metabolic disorders, the distribution of signal abnormalities in L-2-OHG aciduria is highly characteristic and may suggest the correct diagnosis.
authors.affiliation: Department of Neuroradiology, Istituto Nazionale Neurologico C. Besta, Milan, Italy.
authors.forename: L
authors.initials: L
authors.lastname: D'Incerti
authors.forename: L
authors.initials: L
authors.lastname: Farina
authors.forename: I
authors.initials: I
authors.lastname: Moroni
authors.forename: G
authors.initials: G
authors.lastname: Uziel
authors.forename: M
authors.initials: M
authors.lastname: Savoiardo
mesh_terms: D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis*; D001284:Atrophy; D001921:Brain / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D005977:Glutarates / Q000652:urine*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male
chemical_list: D005977:Glutarates