Resumen
La encefalopatía neurogastrointestinal mitocondrial (MNGIE) es una enfermedad genética que se manifiesta desde los primeros años de vida con episodios de íleo, obstrucción intestinal, trastorno de deglución, falla de medro, miopatía, neuropatía periférica y leucoencefalopatía. Sin embargo, las manifestaciones clínicas pueden ser leves o incompletas. En la mayoría de los casos es producto de una mutación de novo, pero también puede heredarse de forma autosómica recesiva. Específicamente, la mutación c.1416 se asocia a MNGIE con neuropatía periférica severa. A continuación se describe el debut, características clínicas, hallazgos bioquímicos, neuroimagen y confirmación de la mutación c.1416 de un paciente con MNGIE pero sin enfermedad de motoneurona inferior.
Citas
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