Microvillous inclusion disease (MVID) is a congenital, usually neonatal, autosomal recessive condition manifested by severe, prolonged secretory diarrhea. Intestinal biopsies reveal extensive microvilli abnormalities, typical inclusions and vesicles mainly of the apical-luminal enterocytes and colonocytes. Although diagnosis can be suspected by special stains of the mucosa (PAS, CD10), the definitive diagnosis, recommended in view of potential intestinal transplantation, requires electron microscopy. In view of the marked variability of ultrastructural changes, extensive illustration is considered valuable for diagnosis. While the pathogenesis is still unknown, a number of images illustrate the suspected "arrested-trafficking" hypothesis of microvillous abnormalities. Others micrographs support the "engulfing" mechanism of inclusion formation. The electron micrographs should help ultrastructural diagnosis in this heterogeneous disease and can confirm diagnosis even in the absence of the typical inclusions.
Bibliographical noteFunding Information:
The authors thank the Dan David Foundation and Milman Fund for Pediatric Research for their support to this study. I. Manov was also supported by the Kamea Fund. We are thankful to R. Shamir and C. Hartman for submitting biopsies for ultrastructural examination and to I. Frumin for expert technical assistance.
- Congenital enterocyte defects
- Intestinal biopsies
- Microvillous inclusion disease
ASJC Scopus subject areas
- Pathology and Forensic Medicine
- Structural Biology