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Revista chilena de pediatría

versão impressa ISSN 0370-4106

Resumo

SCHOEN, Kathrin et al. Microvillous inclusion disease as a cause of severe congenital diarrhea. Case report. Rev. chil. pediatr. [online]. 2017, vol.88, n.5, pp.662-667. ISSN 0370-4106.  http://dx.doi.org/10.4067/S0370-41062017000500015.

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.

Palavras-chave : Intractable diarrhea infants; Intestinal failure; Microvillous inclusion disease.

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