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Microvillous inclusion disease. The importance of electron microscopy for diagnosis
S W Bell1, J A Kerner, R K Sibley
1Department of Pathology, Stanford University Medical Center, California.
Abstract:
We report two cases of microvillous inclusion disease (MID) occurring in a set of siblings. Although it is a rare disorder, MID appears to be a common cause of familial intractable secretory diarrhea. Diagnosis rests on the ultrastructural finding of intracytoplasmic inclusions that are lined by intact microvilli. These inclusions are present in the absorptive surface epithelial cells of the small and large intestine and are associated with poorly developed surface brush border microvilli. The prognosis of MID is poor and curative therapy is not currently available. Because MID appears to be a hereditary disorder, genetic counseling of affected families is essential.
Insights
Microvillous inclusion disease (MID) causes familial intractable secretory diarrhea in siblings. Diagnosis requires ultrastructural analysis of intestinal cells, and genetic counseling is crucial due to the hereditary nature of this rare disorder.
Area of Science:
- Gastroenterology
- Pediatric Gastroenterology
- Cell Biology
Background:
- Microvillous inclusion disease (MID) is a rare genetic disorder.
- It is a significant cause of intractable secretory diarrhea in infants and children.
- Familial occurrence suggests a hereditary basis.
Observation:
- Two siblings presented with symptoms consistent with MID.
- Intestinal biopsy revealed characteristic intracytoplasmic inclusions in absorptive epithelial cells.
- These inclusions were lined by intact microvilli, with poorly developed brush border microvilli.
Findings:
- The ultrastructural findings are diagnostic for microvillous inclusion disease.
- The disease affects both the small and large intestine.
- Poorly developed microvilli impair intestinal absorption.
Implications:
- MID has a poor prognosis with no current curative treatment.
- Early diagnosis through ultrastructural examination is critical.
- Genetic counseling is essential for affected families to understand inheritance patterns and recurrence risks.