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Montreal Neurological Institute and Hospital (Drs. Matthews. Andermann, Karpati, and Arnold) and the Montreal Children's Hospital (Dr. Silver), McGill University. Montreal, PQ, Canada, and the Genetics Laboratory (Dr. Matthews), Oxford University, Oxford, UK.
Localized brain proton MR spectra were acquired from patients with different mitochondrial encephalomyopathies (myoclonus epilepsy with ragged-red fibers [MERRF], Kearns-Sayre syndrome [KSS], and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes [MELAS]). The regional brain metabolic abnormalities in patients with these syndromes showed different features consistent with the distinct phenotypes. In MERRF, only one of four patients showed an increase in the lactate/creatine resonance intensity ratio (an index of impairment of oxidative metabolism) in spectra from central (supraventricular) or occipital brain volumes, and this was small. There were significant decreases in N-acetylaspartate/creatine (a measure of neuronal loss or dysfunction) in central cerebral volumes of demented patients and, more prominently, in occipital volumes. In the one patient in whom it was studied, the cerebellum also showed a decreased N-acetylaspartate/creatine. Spectra from two patients with KSS both showed large (four- to sevenfold) increases in lactate/creatine and large decreases in N-acetylaspartate/creatine in central brain volumes. Yet another pattern of regional metabolic abnormality was present in the MELAS syndrome, where proton spectroscopic imaging demonstrated focal localization of abnormally increased lactate/creatine and decreased N-acetylaspartate/creatine to the regions of the stroke-like lesions on conventional MR images. Serial studies emphasized that the regional metabolic abnormalities in MELAS are highly variable as the stroke-like lesions appear and evolve.
Address correspondence and reprint requests to Dr. D.L. Arnold, Montreal Neurological Institute. 3801 University Street, Montreal. PQ, Canada H3A 2B4.
Supported by the Muscular Dystrophy Association of Canada [D.L.A.), the Medical Research Council of Canada, and NIH (P.M.M.).
Received January 15, 1993. Accepted for publication in final form May 24, 1993.
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