Ridaura-Sanz C, León-Bojorge B, Belmont-Martínez L, Vela-Amieva M

Idioma: Español
Referencias bibliográficas: 19
Paginas: 142-147
Archivo PDF: 570.76 Kb.

RESUMEN

Se presentan los casos de dos niños mexicanos de cinco y seis meses de edad con glucogenosis tipo II, diagnosticados por autopsia. El diagnóstico se basó en los hallazgos tisulares característicos, debidos a la acumulación de glucógeno en el corazón, músculo esquelético y en las neuronas centrales y periféricas. A pesar de que el diagnóstico de laboratorio de esta enfermedad se puede realizar fácilmente en gotas de sangre depositadas en papel filtro, y que tiene tratamiento enzimático específico, desgraciadamente en nuestro país este padecimiento se sigue identificando por autopsia, por lo cual suponemos que su frecuencia está subestimada.

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