MELAS syndrome as a cause of status epilepticus in children: Report on two brothers’ case in Peru.

• Autores: Tirado-Chavarría, Alicia, Donayre-Rodríguez, Eda J., Guillén-Pinto, Daniel
• Formato: artículo
• Fecha de Publicación: 2022
• Institución: Universidad Peruana Cayetano Heredia
• Repositorio: Revistas - Universidad Peruana Cayetano Heredia
• Lenguaje: español
• OAI Identifier: oai:revistas.upch.edu.pe:article/4373
• Enlace del recurso: https://revistas.upch.edu.pe/index.php/RNP/article/view/4373
• Nivel de acceso: acceso abierto
• Materia: MELAS syndrome; epileptic seizures; status epilepticus; hyperlactatemia; Peru; Síndrome MELAS; crisis epiléptica; estado epiléptico; hiperlactacidemia; Perú

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.