Abstract

AGUIRRE-QUISPE, Wilfor et al. MELAS in Latin America. Rev Neuropsiquiatr [online]. 2021, vol.84, n.4, pp.316-332.  Epub Feb 02, 2022. ISSN 0034-8597.  http://dx.doi.org/10.20453/rnp.v84i4.4137.

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.

Keywords : MELAS syndrome; mitochondrial encephalomyopathies; mitochondrial diseases; mitochondrial genes.

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