MELAS in Latin America

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 diagnosi...

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Detalles Bibliográficos
Autores: Aguirre-Quispe, Wilfor, Valdez-Taboada, Mariana, Urbina-Ramírez, Luis, Rivera- Valdivia, Andrea, Sarapura-Castro, Elison, Montoya, Julio, Cornejo-Olivas, Mario
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2022
País:Perú
Institución:Universidad Peruana Cayetano Heredia
Repositorio:Revistas - Universidad Peruana Cayetano Heredia
Idioma:español
OAI Identifier:oai:revistas.upch.edu.pe:article/4137
Acceso en línea:https://revistas.upch.edu.pe/index.php/RNP/article/view/4137
Access Level:acceso abierto
Palabra clave:MELAS syndrome
mitochondrial encephalomyopathies
mitochondrial diseases
mitochondrial genes
Síndrome de MELAS
enfermedades mitocondriales
genes mitocondriales
Latinoamérica
Descripción
Sumario: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.