Siblings with microvillous inclusion disease

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.