microvillus inclusion disease pathology

Microvillus inclusion disease, also known as Davidson's disease, congenital microvillus atrophy and, less specifically, microvillus atrophy (note: microvillus is often misspelled as microvillous), is a rare genetic disorder of the small intestine that is inherited in an autosomal recessive pattern. She had no evidence of significant liver or cardiopulmonary disease. The dramatic improvement in the PAS-stained specimens and the reduced (but persisting) abnormalities in the samples examined by electron microscopy, allied with her ability to thrive on an unrestricted enteral diet are, as far as we are aware, unique. (, Severe villous abnormality with crypt hypoplasia, resembling celiac sprue but without lymphocytosis, Increased enterocyte apoptosis and proliferation, bubbly vacuolated apical cytoplasm with extensive or patchy absence of brush border, absence of inflammation The item(s) has been successfully added to ", This article has been saved into your User Account, in the Favorites area, under the new folder. For more information, please refer to our Privacy Policy. We suggest that in the few patients with features of late-occurring MVID, associated with the increased presence of lateral membrane microvilli on electron microscopy, PN should be the mainstay of treatment, but regular review of small intestinal morphology and function, to include enteral challenges, should be undertaken. Microvillous inclusion disease is an uncommon congenital enteropathy characterized by severe, intractable diarrhea within the first weeks of life. MID has also been diagnosed using CD10 … Also called congenital or familial microvillous atrophy Disorder of intestinal brush border that causes intractable watery diarrhea with steatorrhea in infants Patients require total parental nutrition and rarely live beyond age 2 years Villous atrophy may be due to apoptotic cell loss (Hum Pathol 2000;31:1404) The villi were slightly short (villus-to-crypt ratio 2:1, Fig. Am J Clin Pathol 1992; 98:119–24. Affected infants often have difficulty gaining weight and growing at the expected rate (failure to thrive), developmental delay, liver and kidney problems, and thinning of the bones (osteoporosis). Registered users can save articles, searches, and manage email alerts. N2 - Microvillus inclusion disease (MID) is a rare neonatal enteropathy that is typically diagnosed using electron microscopy to show characteristic inclusions in conjunction with light microscopy and periodic acid-Schiff staining to show lack of the normal brush border on biopsies obtained endoscopically from the small bowel. She subsequently thrived, stabilizing at the 25th percentile at 20 months and subsequently (Fig. Inactivating mutations in MYO5Bcauses depolarization of enterocytes in the small intestine, which gives rise to chronic, unremitting secretory diarrhea. Onset most often occurs within the first days of life. The microvillous inclusions were readily visible throughout the sections. It could be hypothesized that the less severe subjects, such as this case, may have some defect in the regulation of the gene, which could then alter with age leading to the improvement seen. Arch Dis Child 1985; 60:135–40. For information on cookies and how you can disable them visit our Privacy and Cookie Policy. 2B); and epithelial cells with abnormal accumulation of secretory granules (Fig. 6. In vitro, this has been shown in organ culture of fetal intestinal epithelium exposed to cytochalasin, which disrupts microfilaments by binding to their elongation ends (7). Although myosin Vb is implicated in the organization of intracellular transport and cell surface … This website uses cookies. Please enable scripts and reload this page. Gastroenterology 1994; 106:771–4. Although myosin Vb is implicated in the organization of intracellular transport and cell surface … Because more of these children survive for longer periods (with improving management of PN) we believe that the use of early intestinal transplantation for the treatment of MVID should be reviewed. may email you for journal alerts and information, but is committed 1B). In contrast with the original specimens, there was a marked change with longer villi, normal brush borders, no staining of the apical cytoplasm of the enterocytes, and only small foci of enterocyte vacuolation. J Pediatr Gastroenterol Nutr 1998; 27:536–42. Inflammatory disorders: autoimmune enteropathy Behçet disease Crohn's disease diaphragm disease duodenal peptic ulcer eosinophilic enteritis / gastroenteritis ileal pouch / pouchitis … Microvillus inclusion disease (also referred to as congenital microvillus atrophy) is, with Tuft enteropathy, the best known disease of the intestinal epithelium causing intractable diarrhea of infancy, and a leading cause of secretory diarrhea in the first weeks of life. Her mother did not report significantly increased diarrhea, and a 3-day fat balance study revealed fat intake of 36 g/24 hr, and fecal fat output of 0.74 g/24 hr (absorption index, 98%), which confirmed that she did not have fat malabsorption. The abnormal accumulation of PAS material in the tissue specimens of our patient was initially seen in the epithelial cells of the upper crypt. We welcome suggestions or questions about using the website. It was first reported in 1978 and is probably of autosomal recessive inheritance. Despite this, she continued to have secretory diarrhea, possibly relating to an abnormal sodium transport system (4). Clinical presentation with secretory diarrhea in the first week of life is typical, with massive stools and electrolyte loss even when no enteral nutrition is … It is characterized by the neonatal onset of abundant watery diarrhea persisting despite total bowel rest. In those with late-onset disease, changes were first noted in the low villus epithelium. Surface enterocytes over large parts of the mucosa appeared entirely normal with well-preserved brush borders and no abnormalities of the enterocyte cytoplasm detected by PAS staining (Fig. If MVID is an abnormality of a single gene, the most severe congenital cases could have a mutation of that particular gene that does not alter with age. Pretransplant management and small bowel-liver transplantation in an infant with microvillus inclusion disease. Hum Mutat 2010. Abnormal accumulations of secretory granules were not present. Other extensive investigations did not provide a clear diagnosis, and because of persisting diarrhea and weight loss, she needed 7 days of PN. Although the appearance of the small bowel specimens were unchanged before and after this episode, colonic mucosa collected afterward was normal. Lifelong parenteral nutrition (PN) is necessary from diagnosis, and the outlook is poor. MVID is caused by mutations in the MYO5B gene, coding for the myosin Vb motor protein. 30 mins. It has been suggested that MVID is a congenital abnormality of a transport mechanism in the exocytosis of brush border–related material (10). The diagnosis of microvillus inclusion disease was established by documentation of microvillus inclusions in duodenal epithelial cells. This is not the case, in that after the reintroduction of a normal diet for more than 6 months, we have not found any clinical deterioration or change in the morphology of the tissue specimens. MVID manifests either in the first days of life (early-onset form) or in the first two months (late-onset form) of life. It was also noted that lateral membrane microvilli were readily found (Fig. Thus, this case seems to have disparate data for the clinical and pathologic phenotypes. How does cancer arise based on complexity theory? Therefore, the suggestion that food may be a factor in the development of the microscopic abnormalities (13) is questionable, and we are encouraged to attempt repeated enteral challenges in other children with this condition. It is characterized by diffuse intestinal villous atrophy with no inflammatory reaction. Without adequate water and nutrients, children with this condition can become dehydrated, suffer from malnutrition, and fail … Microvillus Inclusion Disease (MVID) is a severe form of neonatal diarrhea, caused mainly by mutations in MYO5B. The need for alternative treatment strategies is evident. She was admitted at the age of 12 days to the local hospital with drowsiness, vomiting, weight loss (from the 50th to the 10th percentile) and a 1-day history of watery green diarrhea. Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. The constitutive exocytotic pathway in microvillous atrophy. Intractable diarrhoea in infancy: a continuing challenge for the paediatric gastroenterologist. Raafat F, Green NJ, Nathavitharana KA, et al. The remaining 4 occurred between 6 and 9 weeks and were described as late onset. (, Abnormal microvillus structures at luminal border of enterocytes, Apical intracytoplasmic inclusions lined by microvilli. The jejunal mucosa showed partial villous atrophy and foci of enterocyte cytoplasmic vacuolation most prominent at the apices of villi. Microvillous inclusion disease (MVID) is a congenital defect of the intestinal epithelial brush border leading to severe intractable diarrhea of infancy. Some patients with microvillus inclusion disease due to myosin 5B (MYO5B) mutations may develop cholestasis characterized by a progressive familial intrahepatic cholestasis‐like phenotype with normal serum gamma‐glutamyl transferase activity.So far MYO5B deficiency has not been reported in patients with such a cholestasis phenotype in the absence of intestinal disease. Ruemmele FM, Müller T, Schiefermeier N, Ebner HL, Lechner S, Pfaller K, et al. We report a child with MVID who, at the age of 5 years, is thriving on a normal unrestricted diet and in whom the most recent small bowel biopsy specimens showed pathologic abnormalities significantly less marked than those found at diagnosis. Unexpectedly, her weight rapidly climbed to above the 50th percentile (Fig. Effects of colchicine on the intestinal transport of endogenous lipid: ultrastructural, biochemical, and radiochemical studies in fasting rats. 4) that suggest that there is an underlying continuing pathologic process. 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