L-2-Hydroxyglutaric Aciduria and Brain Tumors in Children with Mutations in theL2HGDHGene: Neuroimaging Findings

• DOI: 10.1055/s-2008-1081217
• Publication Date: 2008-07-31T20:38:33Z
• Authors: G. Haliloglu; F. Jobard; K. Oguz; B. Anlar; N. Akalan; T. Coskun; J. Sass; J. Fischer; M. Topcu
• Keywords: Male; 0303 health sciences; Magnetic Resonance Spectroscopy; Brain Neoplasms; DNA Mutational Analysis; Mutation, Missense; Magnetic Resonance Imaging; 3. Good health; Glutarates; Alcohol Oxidoreductases; 03 medical and health sciences; Child, Preschool; Humans; Child; Amino Acid Metabolism, Inborn Errors

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.