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: G Haliloglu, F Jobard, K K Oguz, B Anlar, N Akalan, T Coskun, J O Sass, J Fischer, M Topcu
• Journal: Neuropediatrics (Neuropediatrics) Vol. 39 Issue 2 Pg. 119-22 (Apr 2008) ISSN: 0174-304X [Print] Germany
• PMID: 18671189 (Publication Type: Case Reports, Journal Article)

Chemical References

• Glutarates
• alpha-hydroxyglutarate
• Alcohol Oxidoreductases
• L2HGDH protein, human

Topics

• Alcohol Oxidoreductases (genetics, metabolism)
• Amino Acid Metabolism, Inborn Errors (complications, genetics, metabolism)
• Brain Neoplasms (diagnosis, etiology)
• Child
• Child, Preschool
• DNA Mutational Analysis
• Glutarates (metabolism)
• Humans
• Magnetic Resonance Imaging
• Magnetic Resonance Spectroscopy
• Male
• Mutation, Missense