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Enterocolitis necrosante en un paciente con enfermedad de inclusión microvellosa: reporte de un caso
Inna Spector Cohen1,2, H Golden3, O Kobi1,4
1Pediatric Gastroenterology & Nutrition Institute, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel.
Intestinal Failure (New York, N.Y.)
|February 6, 2026
Resumen
La enfermedad de inclusión microvellosa (MVID), un trastorno genético raro, puede presentarse con enterocolitis necrosante (NEC). Este caso resalta la importancia del manejo cuidadoso de la alimentación enteral en pacientes con MVID para prevenir complicaciones de la NEC.
Área de la Ciencia:
- Gastroenterología
- Medicina Pediátrica
- Genética
Sus antecedentes:
- La enfermedad de inclusión microvellosa (MVID) es un trastorno congénito raro caracterizado por diarrea infantil grave, que a menudo requiere nutrición parenteral a largo plazo.
- La MVID se debe a mutaciones en el gen MYO5B, que alteran el tráfico de proteínas del borde en cepillo esencial para la función intestinal.
- La enterocolitis necrosante (NEC) se asocia infrecuentemente con la MVID, con informes de casos previos limitados.
Objetivo del estudio:
- Presentar un caso de MVID complicado por NEC.
- Enfatizar el posible vínculo entre MVID y NEC.
- Informar la práctica clínica sobre la alimentación enteral en pacientes con MVID.
Principales métodos:
- Reporte de caso de un lactante varón de 5 meses con MVID.
- Se documentó la presentación clínica, las imágenes diagnósticas y las intervenciones de tratamiento.
- Se evaluaron las estrategias de manejo nutricional, incluidos los cambios de fórmula y la leche materna donada.
Principales resultados:
- El paciente desarrolló diarrea, deshidratación y acidosis metabólica progresivas después de la transición a la fórmula, lo que llevó al diagnóstico de NEC.
- Las imágenes revelaron hallazgos característicos de NEC: neumatosis intestinal y gas en la vena porta.
- El manejo conservador y el cambio a leche materna donada estabilizaron al lactante y mejoraron los síntomas.
Conclusiones:
- Este caso resalta el potencial de desarrollo de NEC en lactantes con MVID.
- La consideración cuidadosa de las estrategias de alimentación enteral es crucial en pacientes con MVID.
- Los médicos deben mantener un alto índice de sospecha de NEC en MVID debido a los riesgos de hipoperfusión y compromiso de la integridad de la mucosa.
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