Enfermedad de Jansky-Bielschowsky. Reporte de un caso
Abstract
Las lipofuscinosis ceroide neuronal constituyen el grupo más frecuente de trastornos neurodegenerativos de los niños y comprenden tres trastornos que se heredan con carácter autosómico recesivo y se caracterizan desde el punto de vista clínico por crisis mioclónicas, deterioro intelectual y pérdida progresiva de la visión. Se diagnostica basándose en los datos clínicos y en la exploración neuroftalmológica. En este trabajo se presenta un caso de un niño de 10 años de edad que ingresó en el Hospital General Provincial Docente Roberto Rodríguez Fernández con la variedad clínica de lipofuscinosis ceroide neuronal infantil tardía. Se describen las características clínicas del paciente, así como los exámenes neuroftalmológicos realizados.
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