Microvillous atrophy: atypical presentations.

Area of Science:

• Gastroenterology
• Pediatric Pathology
• Clinical Genetics

Background:

• Microvillous inclusion disease (MVID) typically causes severe, intractable diarrhea in neonates, often requiring parenteral nutrition or intestinal transplantation.
• Classic MVID diagnosis involves characteristic histological findings on PAS staining and electron microscopy of enterocytes.

Observation:

• This study investigated 8 MVID cases with atypical clinical presentations.
• Diarrhea onset was delayed in some cases, with less severity, and some patients were weaned off parenteral nutrition.
• Associated conditions included malformations, dysmorphism, sensory disabilities, and cholestasis.

Findings:

• Histological MVID criteria were present, though sometimes focal or delayed.
• Electron microscopy confirmed MVID features in 4 patients.
• Mutations in the MYO5B gene were identified in 6 out of 8 patients.

Implications:

• The findings broaden the clinical spectrum of MVID to include milder presentations.
• This may lead to earlier diagnosis and potentially different management strategies for some MVID patients.
• Understanding genetic and morphological variations is crucial for comprehensive MVID diagnosis and care.