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Gastrointestinal microvillus inclusion disease
D E Schofield1, R M Agostini, E J Yunis
1Department of Pathology, Children's Hospital of Pittsburgh, Pennsylvania.
American Journal of Clinical Pathology
|July 11, 1992
Summary
Microvillus inclusion disease causes severe infant diarrhea, requiring extensive treatment. This study used multivisceral transplantation to map the disease
Area of Science:
- Gastroenterology
- Pediatric Surgery
- Cell Biology
Background:
- Microvillus inclusion disease (MVID) is a rare, severe congenital enteropathy characterized by intractable diarrhea in infants.
- Diagnosis typically relies on identifying characteristic microvillus inclusions within enterocytes, often via electron microscopy.
- This case highlights the diagnostic challenges and the extensive gastrointestinal (GI) involvement seen in MVID.
Observation:
- A 3-year-old girl with MVID presented with intractable diarrhea since 4 days of age, necessitating long-term hyperalimentation.
- Initial investigations included biopsies of the rectum, stomach, duodenum, and liver.
- The patient underwent a multivisceral organ transplant, allowing for a comprehensive assessment of GI tract involvement.
Findings:
- Electron microscopy confirmed microvillus inclusions in the duodenum, jejunum, ileum, and colon, indicating widespread small and large bowel disease.
- Gastric antral epithelial cells also showed some inclusions, suggesting limited upper GI involvement.
- Alkaline phosphatase staining revealed inclusions in the stomach antrum and extensively throughout the small intestine, including surface and upper crypt epithelial cells.
Implications:
- This study provides a detailed map of microvillus inclusion disease (MVID) throughout the gastrointestinal tract, crucial for understanding disease extent.
- The findings underscore the systemic nature of MVID, extending beyond the small intestine.
- Multivisceral transplantation offers a unique approach to study and potentially manage such extensive GI disorders.