title: Neuronal metabolic dysfunction in patients with cortical developmental malformations: a proton magnetic resonance spectroscopic imaging study.
abstract: Cortical developmental malformations are best diagnosed by MRI and are often the cause of refractory epilepsy. Little is known about the metabolic cell function on MR spectroscopy of these types of brain anomaly. We studied 23 patients with cortical developmental malformations and refractory epilepsy using proton MR spectroscopic imaging. Mean age was 28 years (range, 9 to 47 years). The lesions examined were focal cortical dysplasia (n = 5), heterotopia (four band, six periventricular, two subcortical), polymicrogyria (n = 3), tuberous sclerosis (n = 2), and polymicrogyria and periventricular nodular heterotopia (n = 1). We measured the relative signal intensity of N-acetylaspartate/creatine (NAA/Cr) in the lesion, in the perilesional region, and in the region remote from the visible lesion. The values were compared with those from similar brain regions of 25 normal control subjects. The mean NAA/Cr z score values for the 23 patients were as follows: lesion, -2.20 +/- 0.32 (mean +/- SE), n = 21; perilesional region, -1.01 +/- 0.38, n = 15; and distant region, -0.03 +/- 0.34, n = 18 (p < 0.0002). Despite the presence of a large number of neurons, heterotopia showed a relative decrease of NAA in some patients, suggesting that the neurons present were dysfunctional. The maximal NAA/Cr decrease, indicating metabolic dysfunction, colocalized to the structural malformation as defined by MRI and extended to normal-appearing regions adjacent to the visible lesion.
authors.affiliation: Department of Neurology and Neurosurgery, McGill University, and the Montreal Neurological Institute and Hospital, Quebec, Canada.
authors.forename: L M
authors.initials: LM
authors.lastname: Li
authors.forename: F
authors.initials: F
authors.lastname: Cendes
authors.forename: A C
authors.initials: AC
authors.lastname: Bastos
authors.forename: F
authors.initials: F
authors.lastname: Andermann
authors.forename: F
authors.initials: F
authors.lastname: Dubeau
authors.forename: D L
authors.initials: DL
authors.lastname: Arnold
mesh_terms: D000293:Adolescent; D000328:Adult; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D001921:Brain / Q000378:metabolism; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000254:growth & development* / Q000378:metabolism; D002648:Child; D003401:Creatine / Q000378:metabolism; D002658:Developmental Disabilities / Q000175:diagnosis / Q000378:metabolism* / Q000473:pathology; D004569:Electroencephalography; D005260:Female; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008875:Middle Aged; D009474:Neurons / Q000378:metabolism*; D012016:Reference Values
chemical_list: D001224:Aspartic Acid; C000179:N-acetylaspartate; D003401:Creatine