Perfil neuropsicológico de la enfermedad de Niemann Pick tipo C: estudio de caso
DOI:
https://doi.org/10.25057/25005731.333Abstract
El síndrome de Niemann-Pick es una enfermedad caracterizada por falla en el metabolismo lipídico y su almacenamiento a nivel lisosomal, cuya causa esta relacionada con mutaciones específicas en los genes NPC1 y NPC2, los cuales producen acumulación de colesterol no esterificado y esfingolípidos en los lisosomas. El presente artículo expone un perfil neuropsicológico de la Enfermedad de Niemann Pick Tipo C, padecida por un paciente masculino de nueve años edad. Se realizo un estudio de caso único, los instrumentos utilizados fueron: Wisc IV, Figura de Rey, Test de ejecución auditiva continua, Subpruebas de BANFE y neuropsi atención y memoria. Los resultados arrojaron un compromiso de las funciones ejecutivas particularmente las que se asocian a las zonas prefrontales dorsolaterales.
Author Biographies
David Andres Molina, docente investigador Fundación Universitaria Luis Amigo.
Mónica Gómez, Universidad Pontificia Bolivariana
Psicóloga de Universidad Pontificia Bolivariana, Magister en neuropsicología de Universidad San
Buenaventura, Doctora Universidad Maimónides, Centro de atención en neurología pediátrica integral
(CENPI), grupo antioqueño de neurología pediátrica, Medellín, Colombia
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