Enfermedad por inclusión microvellositaria como causa de diarrea congénita severa. Caso clínico

Kathrin Schoen, Alexa Puchi, Ilse González, María Teresa Torres, Roberto Espinosa, Raúl González

Resultado de la investigación: Contribución a una revistaArtículorevisión exhaustiva

Resumen

Introduction: Congenital diarrheas correspond to a severe and low frequency digestive disease, with a high mortality. They start a few days or months after birth, leading to intestinal insufficiency and dependence on parenteral nutrition. It must be highly suspected in newborns or infants with diarrhea and severe electrolyte disorders. The diagnosis is based on clinical, endoscopic, histologic and eventually genetic findings. Treatment is supportive with intensive correction of electrolyte imbalances as well as parenteral nutrition. Objective: To present a case report of congenital diarrhea identified as microvillous inclusion disease presenting in the neonatal period. Case report: Male patient currently 3 years of age, son of consanguineous parents. At 10 days of age presents a severe secretory diarrhea, requiring treatment in a critical care unit and parenteral nutrition. Initially he also presented with Fanconi syndrome, which improved afterwards. The suspicion of congenital microvillous inclusion was confirmed later by optic and electronic microscopy, and inmunohistochemistry. A succesful evolution was later achieved maintaining home parenteral nutrition after discharge. Conclusion: We present the first known case in Chile of congenital diarrhea due to microvillous inclusión disease and his evolution.

Título traducido de la contribuciónMicrovillous inclusion disease as a cause of severe congenital diarrhea. Case report
Idioma originalEspañol
Páginas (desde-hasta)662-667
Número de páginas6
PublicaciónRevista Chilena de Pediatria
Volumen88
N.º5
DOI
EstadoPublicada - 1 sep 2017

Palabras clave

  • Intestinal failure
  • Intractable diarrhea infants
  • Microvillous inclusion disease

Áreas temáticas de ASJC Scopus

  • Pediatría, perinaltología y salud infantil

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