Microvillous atrophy Congenital enteropathy Congenital familial protracted diarrhea with enterocyte brush-border abnormalities

Microvillous inclusion disease (MVID) or microvillous atrophy is a congenital disorder of the intestinal epithelial cells that presents with persistent life-threatening watery diarrhea and is characterized by morphological enterocyte abnormalities. MVID manifests either in the first days of life (early-onset form) or in the first two months (late-onset form) of life. MVID is a very rare disorder of unknown origin, probably transmitted as an autosomal recessive trait. To date, no prevalence data are available. Ultrastructural analyses reveal: 1) a partial to total atrophy of microvilli on mature enterocytes with apical accumulation of numerous secretory granules in immature enterocytes; 2) the highly characteristic inclusion bodies containing rudimentary or fully differentiated microvilli in mature enterocytes. Light microscopy shows accumulation of PASpositive granules at the apical pole of immature enterocytes, together with atrophic band indicating microvillus atrophy and, in parallel, an intracellular PAS or CD10 positive line (marking the microvillous inclusion bodies seen on electron microscopy). Intestinal failure secondary to diarrhea is definitive. To date, no curative therapy exists and children with MVID are totally dependent on parenteral nutrition. Long-term outcome is generally poor, due to metabolic decompensation, repeated states of dehydration, infectious and liver complications related to the parenteral nutrition. As MVID is a very rare disorder, which is extremely difficult to diagnose and manage, children with MVID should be transferred to specialized pediatric gastro-intestinal centers, if possible, a center equipped to perform small bowel transplantation. Early small bowel transplantation resulting in intestinal autonomy gives new hope for disease management and outcome. Disease name and synonyms Microvillous inclusion disease Microvillous atrophy Congenital enteropathy Congenital familial protracted diarrhea with enterocyte brush-border abnormalities Definition and diagnostic criteria Microvillous inclusion disease (MVID) or microvillous atrophy (MVA) is a congenital and constitutive disorder of intestinal epithelial cells [1-6]. It is characterized by the neonatal onset of abundant watery diarrhea persisting Published: 26 June 2006 Orphanet Journal of Rare Diseases 2006, 1:22 doi:10.1186/1750-1172-1-22 Received: 12 May 2006 Accepted: 26 June 2006 This article is available from: http://www.OJRD.com/content/1/1/22 © 2006 Ruemmele et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.