RESUMEN

We report 2 patients with confirmed Niemann-Pick disease, type B, with previous diagnoses of glycogen storage disease based on excessive glycogen on liver biopsy specimens. These cases emphasize the importance of a complete evaluation, including biochemical confirmation, for patients with suspected metabolic storage diseases.

Asunto(s)

Glucógeno Hepático/metabolismo , Hígado/metabolismo , Enfermedades de Niemann-Pick/metabolismo , Preescolar , Diagnóstico Diferencial , Femenino , Enfermedad del Almacenamiento de Glucógeno/diagnóstico , Humanos , Lactante , Masculino , Enfermedades de Niemann-Pick/diagnóstico