title: Microvillous inclusion disease: ultrastructural variability.
abstract: 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.
authors.affiliation: Pediatric Research and Electron Microscopy Unit, The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
authors.forename: Theodore C
authors.initials: TC
authors.lastname: Iancu
authors.forename: Muhammad
authors.initials: M
authors.lastname: Mahajnah
authors.forename: Irena
authors.initials: I
authors.lastname: Manov
authors.forename: Ron
authors.initials: R
authors.lastname: Shaoul
mesh_terms: D003968:Diarrhea, Infantile / Q000150:complications / Q000151:congenital / Q000473:pathology*; D004386:Duodenum / Q000473:pathology; D020895:Enterocytes / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure*; D007223:Infant; D007231:Infant, Newborn; D007410:Intestinal Diseases / Q000150:complications / Q000151:congenital / Q000473:pathology*; D007583:Jejunum / Q000473:pathology; D008297:Male; D046529:Microscopy, Electron, Transmission / Q000379:methods; D008871:Microvilli / Q000648:ultrastructure*