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Microvillus inclusion disease: progressive mucosal pathology. A scanning and transmission electron microscopic study,

J R Poley1

  • 1Section of Pediatric Gastroenterology, Hepatology and Nutrition, Brody School of Medicine, East Carolina University, Greenville, NC 27834, USA. POLEYR@ecu.edu

Journal of Submicroscopic Cytology and Pathology
|September 6, 2007
PubMed

Insights

Microvillus inclusion disease (MID) is a severe congenital diarrheal disorder. This case highlights the rapid progression of MID in an infant, leading to complications and ultimately, sepsis and multi-organ failure.

Area of Science:

  • Gastroenterology
  • Pediatric Pathology
  • Genetics

Background:

  • Microvillus inclusion disease (MID) is a rare, inherited disorder of the small intestine.
  • It is characterized by congenital secretory diarrhea, leading to severe malnutrition and failure to thrive.
  • Early diagnosis and management are crucial for affected infants.

Observation:

  • An infant of African-American descent presented with secretory diarrhea shortly after birth.
  • Electron microscopy confirmed microvillus inclusion disease (MID) in small intestinal biopsies.
  • Repeat biopsies at 15 months showed significant disease progression and loss of normal mucosal architecture.

Findings:

  • The infant could not tolerate enteral nutrition due to the severity of MID.
  • Despite consideration for small intestinal transplantation, the patient's condition deteriorated.
  • The infant succumbed to overwhelming sepsis, resulting in multi-organ failure.

Implications:

  • This case underscores the aggressive nature and rapid progression of microvillus inclusion disease.
  • It highlights the challenges in managing MID, including nutritional support and surgical interventions.
  • The fatal outcome emphasizes the critical need for further research into effective treatments for MID.

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