DOI: https://doi.org/10.7705/biomedica.v38i4.3900

Síndrome epiléptico ligado al cromosoma X por mutación de la protocaderina 19 (OMIM 300088) asociado con leucoencefalopatía y tractopatía posterior reversible

Blair Ortiz, Yesyka Jaramillo, Christian Rojas

Resumen


La epilepsia con retardo mental ligado al cromosoma X por mutación del gen PCDH19, es una condición que solo se presenta en las mujeres. El cuadro clínico suele verse complicado con retardo global del desarrollo y epilepsia. En la edad adulta puede manifestarse con discapacidad intelectual y hasta 20 % de las mujeres afectadas no presentan convulsiones ni retardo intelectual. Se presenta el caso de una niña con epilepsia, retardo del desarrollo y conversión autista, asociados con leucoencefalopatía y tractopatía posterior reversible por mutación del PCDH19 (c.142G>T/ p.Glu48X).


Palabras clave


epilepsia; convulsiones febriles; discapacidad intelectual; leucoencefalopatías; encefalopatías

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Referencias


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Revista Biomédica -  https://doi.org/10.7705/issn.0120-4157
ISSN 0120-4157

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