L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: Neuroimaging findings

Haliloglu G., Jobard F., Oguz K. K., Anlar B., Akalan N., Coskun T., ...More

NEUROPEDIATRICS, vol.39, no.2, pp.119-122, 2008 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 39 Issue: 2
  • Publication Date: 2008
  • Doi Number: 10.1055/s-2008-1081217
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.119-122
  • Keywords: L-2-hydroxyglutaric aciduria, brain tumors, neuroimaging features, organic acids, chirality
  • Hacettepe University Affiliated: Yes


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.