Abstract
ABSTRACT: Morphologic appearance and metabolic disturbances of the brain of a patient with L-2-hydroxyglutaric acidemia were investigated with use of magnetic resonance imaging and localized proton magnetic resonance spectros-copy in vivo. Whereas magnetic resonance imaging revealed increased internal and external ccrebrospinal fluid spaces as well as patchy white matter lesions, metabolic deviations included a 50% decrease of N-acetylaspartate (neuronal marker), a 75% increase of myo-inositol (glial marker), and a 40% decrease of choline-containing compounds in white matter relative to age-matched controls. A clinical deterioration of the patient was clearly reflected in a follow-up examination 22 mo later, resulting in a further reduction of N-acetylaspartate and a more pronounced enhancement of myo-inositol. No elevation of lactate was observed. The magnetic resonance spectroscopy findings are in line with a generalized neurodegcnerative process in L-2-hydroxyglutaric acidemia but also suggest a defect in phosphatidyl inositol metabolism of glial cells.
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Hanefeld, F., Kruse, B., Bruhn, H. et al. In Vivo Proton Magnetic Resonance Spectroscopy of the Brain in a Patient with L-2-Hydroxyglutaric Acidemia. Pediatr Res 35, 614–616 (1994). https://doi.org/10.1203/00006450-199405000-00015
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DOI: https://doi.org/10.1203/00006450-199405000-00015
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