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Revista de Neuro-Psiquiatría
Print version ISSN 0034-8597
Abstract
ESCALANTE-GAVANCHO, Carlos et al. MELAS in Peru: case report. Rev Neuropsiquiatr [online]. 2015, vol.78, n.4, pp.253-257. ISSN 0034-8597.
MELAS syndrome is a rare mitochondrial cytopathy difficult to diagnose. We report the case of a 10year old girl who was admitted to the National Institute of Neurological Sciences of Lima - Peru, who presented sudden stroke like episodes and seizures. Neuroimaging studies showed infarction and genetic testing was positive for identifying the most common MELAS mutation(A3243).
Keywords : Infarction; mutation A3243G; lactic acidosis; mitochondrial myopathy.