{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,8]],"date-time":"2025-05-08T13:54:33Z","timestamp":1746712473772,"version":"3.40.5"},"reference-count":25,"publisher":"American Academy of Pediatrics (AAP)","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,9,1]]},"abstract":"<jats:p>Mutations in the myosin 5\u03b2, syntaxin-binding protein 2, and syntaxin 3 genes lead to microvillus inclusion disease (MVID), an autosomal recessive congenital enteropathy. This rare disease is characterized by lack of microvilli on the surface of enterocytes in the small intestine, the presence of pathognomonic intracellular microvillus inclusions, and vesicular bodies within these enterocytes. This pathology leads to the characteristic intractable, life-threatening, watery diarrhea. In the more common early-onset form, affected patients present in the first few days after birth, whereas in the late-onset form, clinical manifestations appear at approximately 2 to 3 months of age. Genetic testing can confirm the diagnosis, but the infant\u2019s medical history, clinical presentation, and small intestinal biopsy results are strongly suggestive of the diagnosis. The prevalence of MVID is thought to be higher in countries with a high degree of consanguinity. Patients with MVID cannot tolerate feedings and require continuous total parenteral nutrition. Mortality is extremely high in the early-onset type with reports of survival in patients treated with small intestinal transplantation. Medical counseling for parents of infants with MVID needs to reflect our current understanding of the various genetic forms of this disease, the feasible management, and anticipated outcomes.<\/jats:p>","DOI":"10.1542\/neo.21-9-e600","type":"journal-article","created":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T13:30:14Z","timestamp":1598967014000},"page":"e600-e604","source":"Crossref","is-referenced-by-count":3,"title":["Challenges of Microvillus Inclusion Disease in the NICU"],"prefix":"10.1542","volume":"21","author":[{"given":"Ahmed","family":"Badawy","sequence":"first","affiliation":[{"name":"Neonatal Intensive Care Unit and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manahil","family":"Elfadul","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed","family":"Aziabi","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hossain Ibrahim","family":"Ageel","sequence":"additional","affiliation":[{"name":"Gastroenterology Unit, Pediatrics Department, King Fahd Central Hospital, Gazan, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Aqeel","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit and"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[2020,9,1]]},"reference":[{"issue":"1","key":"2021121007384464200_B1","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1097\/00005176-200401000-00007","article-title":"Neonatal enteropathies: defining the causes of protracted diarrhea of infancy","volume":"38","author":"Sherman","year":"2004","journal-title":"J Pediatr Gastroenterol Nutr"},{"issue":"5","key":"2021121007384464200_B2","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1038\/nrgastro.2015.44","article-title":"Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies","volume":"12","author":"Canani","year":"2015","journal-title":"Nat Rev Gastroenterol Hepatol"},{"issue":"5","key":"2021121007384464200_B3","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1016\/0016-5085(78)90458-4","article-title":"Familial enteropathy: a syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villus atrophy","volume":"75","author":"Davidson","year":"1978","journal-title":"Gastroenterology"},{"issue":"10","key":"2021121007384464200_B4","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1056\/NEJM198903093201006","article-title":"Microvillus inclusion disease: an inherited defect of brush-border assembly and differentiation","volume":"320","author":"Cutz","year":"1989","journal-title":"N Engl J Med"},{"issue":"5","key":"2021121007384464200_B5","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1002\/humu.21224","article-title":"Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model","volume":"31","author":"Ruemmele","year":"2010","journal-title":"Hum Mutat"},{"issue":"6","key":"2021121007384464200_B6","doi-asserted-by":"crossref","first-page":"497","DOI":"10.5001\/omj.2012.119","article-title":"Diagnosis of microvillous inclusion disease: a case report and literature review with significance for oman","volume":"27","author":"Al-Sinani","year":"2012","journal-title":"Oman Med J"},{"issue":"3","key":"2021121007384464200_B7","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1159\/000479624","article-title":"Microvillus inclusion disease variant in an infant with intractable diarrhea","volume":"11","author":"Alsaleem","year":"2017","journal-title":"Case Rep Gastroenterol"},{"key":"2021121007384464200_B8","unstructured":"International Microvillus Inclusion Disease (MVID) Patient Registry.\u2008Welcome page. 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