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, .

Palabras clave: epilepsia, convulsiones febriles, discapacidad intelectual, leucoencefalopatías, encefalopatías

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).

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  • Blair Ortiz Grupo de Neurología Infantil, Universidad de Antioquia, Medellín, Colombia
  • Yesyka Jaramillo Grupo de Neurología Infantil, Universidad de Antioquia, Medellín, Colombia
  • Christian Rojas Facultad de Salud, Universidad del Valle, Cali, Colombia

Referencias

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Cómo citar
Ortiz, B., Jaramillo, Y., & Rojas, C. (2018). Síndrome epiléptico ligado al cromosoma X por mutación de la protocaderina 19 (OMIM 300088) asociado con leucoencefalopatía y tractopatía posterior reversible. Biomédica, 38(4), 463-466. https://doi.org/10.7705/biomedica.v38i4.3900
Publicado
2018-12-01
Sección
Presentación de caso