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ISSN 0188-9796 (Impreso)

2013, Número 3

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Rev Endocrinol Nutr 2013; 21 (3)


MELAS: una serie de casos del Hospital Civil de Guadalajara «Fray Antonio Alcalde»

Muñoz-Nevárez LA, Martín-Nares E, Ontiveros-Mercado H, Alvarado-Verduzco H, Valerdi-Contreras L, Ramírez-Guzmán MG

Idioma: Español
Referencias bibliográficas: 46
Paginas: 138-147
Archivo PDF: 560.97 Kb.


RESUMEN

Introducción: MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like events, por sus siglas en inglés) es una entidad clínica integrante de la familia de las enfermedades mitocondriales, un grupo de trastornos caracterizados por mutaciones de genes del ADN mitocondrial que condicionan disfunción en la cadena respiratoria y la fosforilación oxidativa a nivel multisistémico, principalmente, en el sistema nervioso central (SNC) y el músculo. Su patrón de herencia es materno, y 80% de los casos presentan la mutación m.3243A›G. Se presenta en infantes y en adultos jóvenes, con un curso recurrente-remitente caracterizado por crisis convulsivas, cefalea y episodios de signos y síntomas parecidos a los relacionados con un evento vascular cerebral isquémico, generando un déficit neurológico agudo (de uno o varios territorios cerebrales) que conlleva a disfunción neurológica progresiva y demencia. Objetivo: A continuación presentamos una serie de tres casos en los que se estableció el diagnóstico de MELAS durante su estancia hospitalaria en el servicio de medicina interna de nuestro hospital. Conclusión: Originalmente descrito en 1984 como reporte de caso de dos pacientes con talla baja, hipoacusia, crisis convulsivas, déficit neurológico agudo, agitación psicomotriz y lactato elevado, con presencia de fibras rojas rasgadas en la biopsia muscular, el síndrome MELAS era considerado una entidad rara; sin embargo, evidencia actual sugiere que los trastornos mitocondriales son comunes en la población mundial y, por tal motivo, recomendamos considerar MELAS como diagnóstico diferencial dentro del abordaje de evento vascular cerebral en el paciente joven.


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