MELAS with A3243G mutation presenting with occipital status epilepticus.
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.
Karkare
Shefali
S
Division of Pediatric Neurology, New York Presbyterian Hospital (Cornell Campus), New York, New York, USA. shk9027@nyp.org
Merchant
Sabiha
S
Solomon
Gail
G
Engel
Murray
M
Kosofsky
Barry
B
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*