Single-voxel MR spectroscopy and diffusion-weighted MRI in two patients with l-2-hydroxyglutaric aciduria.
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.
Aydin
Kubilay
K
Department of Radiology, Istanbul Medical School, Istanbul University, 03400, Istanbul, Turkey. dr.aydink@superonline.com
Ozmen
Meral
M
Tatli
Burak
B
Sencer
Serra
S
D001921:Brain / Q000473:pathology; D001923:Brain Chemistry; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis* / Q000378:metabolism; D002648:Child; D005977:Glutarates / Q000378:metabolism*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D009682:Magnetic Resonance Spectroscopy / Q000379:methods; D008297:Male
D005977:Glutarates; C019417:alpha-hydroxyglutarate