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Revista de Neuro-Psiquiatría
versión impresa ISSN 0034-8597
Resumen
TIRADO-CHAVARRIA, Alicia; DONAYR-RODRIGUEZ, Eda J. y GUILLEN-PINTO, Daniel. MELAS syndrome as a cause of status epilepticus in children: Report on two brothers’ case in Peru. Rev Neuropsiquiatr [online]. 2022, vol.85, n.4, pp.319-326. Epub 14-Dic-2022. ISSN 0034-8597. http://dx.doi.org/10.20453/rnp.v85i4.4373.
MELAS Syndrome is a mitochondrial disease associated with epileptic seizures. The case of two siblings with genetically confirmed MELAS is presented, with a history of recurrent status epilepticus accompanied by neurological deficits, failure to thrive, hyperlacticaemia, and brain lesions resembling strokes. The neurological presentation with epileptic status is highlighted to be considered in the corresponding differential diagnosis in emergency rooms and pediatric hospitals.
Palabras clave : MELAS syndrome; epileptic seizures; status epilepticus; hyperlactatemia; Peru.