The Indian Journal of Pediatrics

, Volume 84, Issue 12, pp 953–954 | Cite as

Congenital Fatal Diarrhea in Newborns

  • Swapna Lingaldinna
  • Mangala Bharathi Sundaram
  • C. N. Kamalarathnam
  • Sumathi Bavanandam
Clinical Brief
  • 108 Downloads

Abstract

Microvillus inclusion disease is a rare autosomal recessive disorder of intestinal epithelium causing intractable secretary diarrhea in the first two months of life and about 140 cases have been reported worldwide till now. Here authors report 2 cases of Microvillus inclusion disease (MVID) diagnosed in neonates by electron microscopy study of small intestinal biopsy.

Keywords

Microvillus inclusion disease Neonatal diarrhea Small bowel biopsy 

Notes

Acknowledgments

The authors acknowledge Dr. Anna B. Pulimood, Christian Medical College, Vellore for helping them in arriving at the diagnosis.

Contributions

SL, MBS, SB: managed the baby; SL reviewed the literature and drafted the initial version of the manuscript; MBS, CNK, SB: contributed to literature review and critically revised the manuscript; SB did the duodenal mucosal biopsy. All the authors contributed to drafting of the manuscript and approved the final version of the manuscript. MBS will act as guarantor for the paper.

Compliance with Ethical Standards

Conflict of Interest

None.

Source of Funding

None.

References

  1. 1.
    Davidson GP, Cutz E, Hamilton JR, Gall DG. Familial enteropathy: a syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villus atrophy. Gastroenterology. 1978;75:783–90.PubMedGoogle Scholar
  2. 2.
    Van der Velde KJ, Dhekne HS, Swertz MA, et al. An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations. Hum Mutat. 2013;34:1597–605.CrossRefPubMedGoogle Scholar
  3. 3.
    Muller T, Hess MW, Schiefermeier N, et al. MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. Nat Genet. 2008;40:1163–5.CrossRefPubMedGoogle Scholar
  4. 4.
    Ruemmele FM, Schmitz J, Goulet O. Microvillus inclusion disease (microvillus atrophy). Orphanet J Rare Dis. 2006;1:22.CrossRefPubMedPubMedCentralGoogle Scholar
  5. 5.
    Schillingford NM, Calicchio ML, Teot LA, et al. Villin immunohistochemistry is a reliable method for diagnosing microvillus inclusion disease. Am J Surg Pathol. 2015;39:245–50.CrossRefGoogle Scholar
  6. 6.
    Bunn SK, Beath SV, McKeirnan PJ, et al. Treatment of microvillus inclusion disease by intestinal transplantation. J Pediatr Gastroenterol Nutr. 2000;31:176–80.CrossRefPubMedGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2017

Authors and Affiliations

  • Swapna Lingaldinna
    • 1
  • Mangala Bharathi Sundaram
    • 1
  • C. N. Kamalarathnam
    • 1
  • Sumathi Bavanandam
    • 2
  1. 1.Department of NeonatologyInstitute of Child Health and Hospital for ChildrenChennai-8India
  2. 2.Department of Pediatric GastroenterologyInstitute of Child Health and Hospital for ChildrenChennai-8India

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