Single-voxel MR spectroscopy and diffusion-weighted MRI in two patients with L-2-hydroxyglutaric aciduria

Aydin K., Ozmen M., Tatli B., Sencer S.

PEDIATRIC RADIOLOGY, vol.33, no.12, pp.872-876, 2003 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 33 Issue: 12
  • Publication Date: 2003
  • Doi Number: 10.1007/s00247-003-1029-z
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.872-876
  • Istanbul University Affiliated: Yes


L-2-Hydroxyglutaric aciduria is a rare inherited, neurometabolic disorder. The underlying metabolic defect and the pathophysiology of L-2-hydroxyglutaric aciduria have not yet been defined. We present MR spectroscopy and cranial MR imaging findings, including diffusion-weighted sequences in two male siblings (aged 10 and 12 years). MR spectroscopy revealed a multiplet at 2.10-2.50 ppm and two broad peaks at 0.9-1.6 ppm. The multiplet at 2.10-2.50 ppm might have been created by elevated glutamate and glutamine or L-2-hydroxyglutaric acid itself, which has a similar chemical structure to glutamate. Diffusion-weighted images demonstrated increased diffusion of water molecules in the white-matter lesions.