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Congenital Fatal Diarrhea in Newborns

Swapna Lingaldinna1, Mangala Bharathi Sundaram2, C N Kamalarathnam1

  • 1Department of Neonatology, Institute of Child Health and Hospital for Children, Egmore, Chennai-8, Tamil Nadu, India.

Indian Journal of Pediatrics
|August 27, 2017
PubMed

Insights

Microvillus inclusion disease (MVID) is a rare genetic disorder causing severe diarrhea in newborns. This report details two neonatal cases diagnosed using electron microscopy of small intestinal biopsies.

Area of Science:

  • Gastroenterology
  • Pediatric Pathology
  • Genetics

Background:

  • Microvillus inclusion disease (MVID) is a rare, inherited disorder affecting the intestinal lining.
  • It presents as severe secretory diarrhea within the first two months of life.
  • Approximately 140 cases have been documented globally.

Observation:

  • This study presents two neonates diagnosed with MVID.
  • Diagnosis was confirmed through electron microscopy analysis of small intestinal biopsy samples.

Findings:

  • Electron microscopy is a key diagnostic tool for MVID in neonates.
  • The study highlights the importance of detailed histopathological examination.

Implications:

  • Early diagnosis of MVID is crucial for timely management.
  • Further research into MVID pathogenesis and treatment is warranted.
  • This case report contributes to the limited global understanding of MVID.
Keywords:
Microvillus inclusion diseaseNeonatal diarrheaSmall bowel biopsy

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