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Genetic heterogeneity is well documented in patients with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS). About 80% of typical MELAS patients harbor a heteroplasmic point mutation in the tRNALeu(UUR) gene at nucleotide position 3243 of the mitochondrial DNA (mtDNA).1 Ten other mutations have been identified to date. We report the clinical, radiologic, and histologic data of a new case of MELAS associated with a G13513A mutation in the mitochondrial ND5 gene. This association was first described in one patient,2 and more recently identified in four others.3 In our case, the remarkable features were the late age at onset and the existence of recurrent brain hematomas.
Case report.
This case history was briefly reported4 before the mtDNA mutation was identified. A nonhypertensive 31-year-old woman had presented with repeated, generalized or left-sided seizures preceded by headache. CT scan showed a right anterior border zone infarct. The carotid angiogram was normal. At age 37, neurologic examination showed gait ataxia, a spastic quadriparesis predominant on the left side, bilateral …
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