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Siblings with microvillous inclusion disease
K A Nathavitharana1, N J Green, F Raafat
1Institute of Child Health, University of Birmingham.
Archives of Disease in Childhood
|July 1, 1994
Summary
Microvillous inclusion disease (MVID) is a severe infant disorder. Diagnosis is possible through retrospective analysis of archival tissue, aiding genetic counseling.
Area of Science:
- Gastroenterology
- Pediatrics
- Genetics
Background:
- Microvillous inclusion disease (MVID) is a rare, severe congenital enteropathy.
- It presents with intractable diarrhea in neonates, often leading to fatal outcomes.
- Understanding its genetic basis is crucial for diagnosis and management.
Observation:
- Two male siblings from a consanguinous Pakistani family presented with fatal diarrhea within 48 hours of birth.
- Case 1 received a diagnosis of MVID on day 6 via small intestinal biopsy, showing characteristic microscopic features.
- Case 2 was retrospectively diagnosed using archival appendiceal tissue from 10 years prior.
Findings:
- The clinical presentation and histopathological findings in both siblings were consistent with MVID.
- The family history suggested autosomal recessive inheritance for MVID.
- Retrospective diagnosis using archival tissue confirmed the disease in the second sibling.
Implications:
- This study highlights the possibility of retrospective MVID diagnosis using archival tissue.
- Such diagnoses can significantly aid in genetic counseling for affected families.
- Further research into MVID's genetic underpinnings can be facilitated by these retrospective findings.