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Revista de la Asociación Médica del Centro Médico ABC

2012, Número 3

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An Med Asoc Med Hosp ABC 2012; 57 (3)


Lipofuscinosis neuronal ceroidea infantil tardía. Reporte de un caso

Andrade-Bañuelos A, Jean-Tron G, Ortega-Ponce F, Arnold ST, Rana RS, Islas-García D

Idioma: Español
Referencias bibliográficas: 32
Paginas: 256-261
Archivo PDF: 586.70 Kb.


RESUMEN

Englobadas dentro de las epilepsias mioclónicas progresivas, las lipofuscinosis neuronales ceroideas son un padecimiento comúnmente pediátrico y poco frecuente de desórdenes hereditarios que conducen a regresión en el neurodesarrollo, ataxia y muerte temprana. Existen ocho tipos conocidos de mutaciones genéticas que causan esta patología, el diagnóstico es clínico en primera instancia y se corrobora mediante estudios de imagen como la tomografía computarizada y la resonancia magnética, así como hallazgos en el electroencefalograma. Las tinciones de biopsia de tejidos y la microscopía electrónica proporcionan una excelente herramienta auxiliar. En este artículo presentamos el caso de un niño de cuatro años de edad al que mediante las manifestaciones clínicas: semiología de las crisis epilépticas y aparición cronológica de las mismas, regresión en el neurodesarrollo, hallazgos en neuroimagen, neurofisiológicos y de patología, se logró confirmar el diagnóstico de lipofuscinosis neuronal ceroidea del tipo infantil tardío.


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