title: Magnetic resonance imaging shows specific abnormalities in the MELAS syndrome.
abstract: The MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) can be difficult to identify. We report MRI abnormalities that we believe are specific to this disorder in three patients with complete or partial MELAS syndrome. The patients all showed an unusual pattern on T2-weighted MRI with multifocal areas of hyperintense signal confined to the cortex of the cerebrum, cerebellum, and adjacent white matter. Some images suggested selective cortical involvement of deeper layers only. Deep white matter was relatively spared, distinguishing this from usual cerebrovascular disease or the edema after status epilepticus. Specificity of these findings is further suggested by a good correlation of these findings with the previously described unique postmortem brain pathology of MELAS.
authors.affiliation: Montreal Neurological Institute and Hospital, Montreal, PQ, Canada.
authors.forename: P M
authors.initials: PM
authors.lastname: Matthews
authors.forename: D
authors.initials: D
authors.lastname: Tampieri
authors.forename: S F
authors.initials: SF
authors.lastname: Berkovic
authors.forename: F
authors.initials: F
authors.lastname: Andermann
authors.forename: K
authors.initials: K
authors.lastname: Silver
authors.forename: D
authors.initials: D
authors.lastname: Chityat
authors.forename: D L
authors.initials: DL
authors.lastname: Arnold
mesh_terms: D000140:Acidosis, Lactic / Q000175:diagnosis*; D000328:Adult; D001921:Brain / Q000473:pathology; D001927:Brain Diseases / Q000175:diagnosis* / Q000473:pathology; D002561:Cerebrovascular Disorders / Q000175:diagnosis*; D002648:Child; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008931:Mitochondria, Muscle; D009135:Muscular Diseases / Q000175:diagnosis*; D013577:Syndrome