Enfermedad de MELAS en Latinoamérica: revisión temática.
DOI:
https://doi.org/10.20453/rnp.v84i4.4137Palabras clave:
Síndrome de MELAS, enfermedades mitocondriales, genes mitocondriales, LatinoaméricaResumen
Revisión temática sobre la enfermedad de MELAS y casos reportados en Latinoamérica entre 1990 y 2021, mediante búsquedas en las bases de datos LILACs, Scielo, PubMed/Medline y Scopus. De un total de 966 publicaciones, se seleccionaron 19 reportes/series de casos y se describen 51 casos (39 niños y 12 adultos), 42 de ellos en ocho países latinoamericanos y con estudios genéticos. La variante m.3243A>G fue la más frecuentemente identificada, con una edad media de 12 ± 9.7 años y un discreto predominio en mujeres. Las manifestaciones neurológicas más frecuentes fueron episodios de stroke like y epilepsia. Las lesiones más frecuentes detectadas por resonancia magnética fueron de tipo isquémico stroke like y calcificación de núcleos de la base.
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