MELAS in Latin America

• Autores: Aguirre-Quispe, Wilfor, Valdez-Taboada, Mariana, Urbina-Ramírez, Luis, Rivera- Valdivia, Andrea, Sarapura-Castro, Elison, Montoya, Julio, Cornejo-Olivas, Mario
• 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/4137
• Enlace del recurso: https://revistas.upch.edu.pe/index.php/RNP/article/view/4137
• Nivel de acceso: acceso abierto
• Materia: MELAS syndrome; mitochondrial encephalomyopathies; mitochondrial diseases; mitochondrial genes; Síndrome de MELAS; enfermedades mitocondriales; genes mitocondriales; Latinoamérica

A thematic review on MELAS in Latin America between 1990 and 2021 was conducted through a systematic literature search on LILACs, Scielo, PubMed/Medline and Scopus databases. Nineteen case reports/series out of 966 publications were selected and included 51 patients, 42 of them with genetic diagnosis reported in eight Latin American countries. The m.3243A> G variant was the most frequently reported, the mean age at onset being 12 ± 9.7 years, with a mild female predominance. The most frequent neurological features were stroke-like episodes and seizures. Neuroimaging tests highlighted ischemic stroke-like lesions as well as calcified lesions in the basal ganglia.