title: MELAS with A3243G mutation presenting with occipital status epilepticus.
abstract: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a mitochondrial disorder commonly caused by the A3243G mutation. We report a patient who initially presented with visual hallucinations, headaches, and nonconvulsive status epilepticus originating in left occipital lobe who subsequently progressed to have multifocal seizures. His magnetic resonance imaging (MRI) showed subtle T2 hyperintensity at first presentation that subsequently fully resolved. He then had more typical diffusion restriction not conforming to vascular territories. Evolution of his neuroimaging and electroencephalogram (EEG) is discussed with a brief review of literature. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes should be suspected early with occipital lobe seizures.
authors.affiliation: Division of Pediatric Neurology, New York Presbyterian Hospital (Cornell Campus), New York, New York, USA. shk9027@nyp.org
authors.forename: Shefali
authors.initials: S
authors.lastname: Karkare
authors.forename: Sabiha
authors.initials: S
authors.lastname: Merchant
authors.forename: Gail
authors.initials: G
authors.lastname: Solomon
authors.forename: Murray
authors.initials: M
authors.lastname: Engel
authors.forename: Barry
authors.initials: B
authors.lastname: Kosofsky
mesh_terms: D000293:Adolescent; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004569:Electroencephalography; D004827:Epilepsy / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006212:Hallucinations / Q000209:etiology / Q000503:physiopathology; D006261:Headache / Q000209:etiology / Q000503:physiopathology; D006801:Humans; D017241:MELAS Syndrome / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D009778:Occipital Lobe / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology*; D013226:Status Epilepticus / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*