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Microvillus inclusion disease: a short review of literature
1Department of Trauma and Surgery, Midcheshire NHS Foundation Trust, United Kingdom.
Abstract:
Microvillus inclusion disease (MVD) is a rare autosomal recessive disease that was first discovered in 1978 by Davidson et al., with significant mortality and morbidity within the first year of life. It presents mainly with abdominal symptoms like diarrhoea, abdominal distension, vomiting electrolyte imbalance. Sometimes, depending on the genetic mutation involved, the phenotypic manifestation can vary. Certain genetic mutations are associated with cholestasis, dilated bowel loops, and metabolic acidosis, whereas some present with nystagmus and reduced visual acuity. Electron microscopy of the duodenal biopsy sample is used as a diagnostic tool. Absence or shortening of apical microvilli with microvillus inclusion bodies in mature enterocytes, which are pathognomonic to MVD alongside periodic acid Schiff (PAS)-positive granules or vesicles in the immature enterocytes.
Insights
Microvillus inclusion disease (MVD) is a rare genetic disorder causing severe infant gastrointestinal issues. Diagnosis relies on identifying characteristic changes in duodenal biopsies via electron microscopy.
Area of Science:
- Gastroenterology
- Genetics
- Pediatric Diseases
Background:
- Microvillus inclusion disease (MVD) is a rare, severe autosomal recessive disorder impacting infants.
- Characterized by significant early-life mortality and morbidity, primarily presenting with gastrointestinal symptoms.
Discussion:
- Clinical manifestations of MVD are diverse, influenced by specific genetic mutations.
- Symptoms include diarrhea, abdominal distension, vomiting, and electrolyte imbalances.
- Some mutations are linked to cholestasis, dilated bowel loops, metabolic acidosis, nystagmus, and vision impairment.
Key Insights:
- Diagnosis is confirmed by electron microscopy of duodenal biopsies.
- Pathognomonic findings include absent/shortened apical microvilli and microvillus inclusion bodies in mature enterocytes.
- Immature enterocytes may show periodic acid Schiff (PAS)-positive granules or vesicles.
Outlook:
- Further research into genotype-phenotype correlations can refine understanding and management.
- Exploring novel diagnostic markers and therapeutic strategies is crucial for improving outcomes.
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