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Academia Mexicana de Neurología, A.C.

2012, Número 5

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Rev Mex Neuroci 2012; 13 (5)


Enfermedad de Niemann-Pick tipo C

Jean-Tron G, Ortega-Ponce F, Islas-García D

Idioma: Español
Referencias bibliográficas: 42
Paginas: 281-285
Archivo PDF: 264.11 Kb.


RESUMEN

La enfermedad de Niemann-Pick es un padecimiento autosómico recesivo, caracterizado por un defecto en el metabolismo lipídico y su almacenamiento a nivel lisosomal cuya etiología es relacionada con mutaciones específicas en los genes NCP1 y NCP2, que producen acumulación de colesterol no esterificado y esfingolípidos en los lisosomas. Debido a que los estudios de laboratorio e imagen estándar suelen aparecer normales, el diagnóstico se debe sospechar por medio de las manifestaciones clínicas. Es propio de este padecimiento la heterogeneidad clínica, sin embargo, algunas manifestaciones incluyen: ataxia, disartria, disfagia y deterioro cognitivo. Hasta la fecha no se cuenta con un tratamiento específico o modificador de la enfermedad, razón por la que su manejo se limita al alivio sintomático y paliativo. En el presente artículo se expone el caso de un paciente cuya sintomatología, principalmente con curso progresivo de cataplejía y síndrome extrapiramidal concordaron con el tipo C de Niemann- Pick, corroborado con estudio de neuroimagen, electroencefalograma y aspirado de médula ósea.


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