title: L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings.
abstract: L-2-Hydroxyglutaric aciduria (L-2-HGA, MIM 236792) is a rare autosomal recessive neurodegenerative disorder characterized by psychomotor delay, cerebellar and extrapyramidal signs and subcortical leukoencephalopathy with basal ganglia and dentate nuclei involvement. Mutations in the gene L2HGDH ( C14ORF160/DURANIN/) have been identified as causative for L-2-HGA. A feature disproportionally associated with L-2-HGA is the development of malignant brain tumors. In our cohort of 40 patients with L-2-HGA, two developed medulloblastoma and glioblastoma multiforme during the course of the disease. Two missense mutations in two patients were identified in the L2HGDH gene in exon 3 (c.292C-->T) and in exon 7 (c.887T-->A). Both mutations were present in the homozygous state. Serial MR imaging findings as well as MR spectroscopy imaging is reported in a patient who developed glioblastoma multiforme.
authors.affiliation: Department of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: G
authors.initials: G
authors.lastname: Haliloglu
authors.forename: F
authors.initials: F
authors.lastname: Jobard
authors.forename: K K
authors.initials: KK
authors.lastname: Oguz
authors.forename: B
authors.initials: B
authors.lastname: Anlar
authors.forename: N
authors.initials: N
authors.lastname: Akalan
authors.forename: T
authors.initials: T
authors.lastname: Coskun
authors.forename: J O
authors.initials: JO
authors.lastname: Sass
authors.forename: J
authors.initials: J
authors.lastname: Fischer
authors.forename: M
authors.initials: M
authors.lastname: Topcu
mesh_terms: D000429:Alcohol Oxidoreductases / Q000235:genetics* / Q000378:metabolism; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D001932:Brain Neoplasms / Q000175:diagnosis* / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005977:Glutarates / Q000378:metabolism; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D020125:Mutation, Missense
chemical_list: D005977:Glutarates; C019417:alpha-hydroxyglutarate; D000429:Alcohol Oxidoreductases; C506763:L2HGDH protein, human