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Abstract: MELAS syndrome is a mitochondrial disease which precise clinical features and enfermedad mitocondrial cuyas caracterÃsticas clÃnicas precisas y pruebas complementarias útiles para el diagnóstico aún son complementary test useful to diagnosis are still controversial. It may mimic Herpes Simplex Encephalitis. Lactic acid levels in blood and cerebrospinal fluid (elevated), neuroimaging controvertidas. Puede simular una encefalitis herpética. Los niveles de ácido láctico en sangre y lÃquido cefalorraquÃdeo (elevados), las pruebas de neuroimagen (imágenes que simulan un infarto cerebral pero el de superan un territorio (stroke-like images that did not correlate with a vascular supply), electroencephalography (background slowing with possible lateralized epileptiform discharges), muscle biopsy (ragged red fibers mostly positive for COX activity), and molecular genetics (transition of mitochondrial DNA) are helpful in the diagnosis but the absence of findings does not reject a MELAS syndrome such as it happens in the case reported. vascular), (enlentecimiento electroencefalograma fondo con posibles descargas periódicas lateralizadas), la biopsia muscular (fibras rojo rasgadas positivas para actividad COX) y los test de genética molecular (mutación puntual en el ADN mitocondrial) son útiles en el diagnóstico, pero ante la ausencia de hallazgos no se puede rechazar el diagnóstico de sÃndrome MELAS, tal y como sucede
Archivos de Medicina – iMedPub, Internet Medical Publishing
Published: Dec 27, 2009
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