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, cilt.33, sa.12, ss.872-876, 2003 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 33 Konu: 12
  • Basım Tarihi: 2003
  • Doi Numarası: 10.1007/s00247-003-1029-z
  • Sayfa Sayıları: ss.872-876


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.