Intractable Infant Diarrhea with Epithelial Dysplasia Associated with Polymalformation

Service de Gastroenterologie Pédiatrique, Hôpital Robert Debré, Paris, France.
Journal of Pediatric Gastroenterology and Nutrition (Impact Factor: 2.63). 10/1998; 27(3):348-52. DOI: 10.1097/00005176-199809000-00016
Source: PubMed
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    • "Several cases of IED have been reported as being associated with phenotypic abnormalities, for example Dubowitz syndrome or malformative syndrome [6-8]. Some affected children are reported to have dysmorphic facial features [6]. "
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    ABSTRACT: Intestinal epithelial dysplasia (IED), also known as tufting enteropathy, is a congenital enteropathy presenting with early-onset severe intractable diarrhea causing sometimes irreversible intestinal failure. To date, no epidemiological data are available, however, the prevalence can be estimated at around 1/50,000-100,000 live births in Western Europe. The prevalence seems higher in areas with high degree of consanguinity and in patients of Arabic origin. Infants develop within the first days after birth a watery diarrhea persistent in spite of bowel rest and parenteral nutrition. Some infants are reported to have associated choanal rectal or esophageal atresia. IED is thought to be related to abnormal enterocytes development and/or differentiation. Nonspecific punctuated keratitis was reported in more than 60% of patients. Histology shows various degree of villous atrophy, with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium with disorganization of surface enterocytes with focal crowding, resembling tufts. Several associated specific features were reported, including abnormal deposition of laminin and heparan sulfate proteoglycan (HSPG) in the basement membrane, increased expression of desmoglein and ultrastructural changes in the desmosomes, and abnormal distribution of alpha2beta1 integrin adhesion molecules. One model of transgenic mice in which the gene encoding the transcription factor Elf3 is disrupted have morphologic features resembling IED. Parental consanguinity and/or affected siblings suggest an autosomal recessive transmission but the causative gene(s) have not been yet identified making prenatal diagnosis unavailable. Some infants have a milder phenotype than others but in most patients, the severity of the intestinal malabsorption even with enteral feeding make them totally dependent on daily long-term parenteral nutrition with a subsequent risk of complications. IED becomes an indication for intestinal transplantation, while timing of referral for it is crucial before the onset of severe complications.
    Full-text · Article · Feb 2007 · Orphanet Journal of Rare Diseases

  • No preview · Article · Feb 2003 · Journal of Pediatric Gastroenterology and Nutrition
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    ABSTRACT: The underlying causes of chronic diarrhea beginning early in life are increasingly well defined. Infectious and post-infectious enteropathies and food sensitive/allergic enteropathy account for the majority of cases. Recent attention has focused on characterizing defined entities, which cause protracted diarrhea in infants and young children. Disorders of intestinal ion transport usually present at birth following a pregnancy complicated by polyhydramnios. Intestinal mucosal biopsies show normal architect with intact villus-crypt axis. Neonatal enteropathies, by contrast, are characterized by blunting of the villi. These include microvillus inclusion disease, tufting enteropathy, autoimmune enteropathy and IPEX syndrome - and it is these conditions that are the subject of the current review.
    Full-text · Article · Feb 2004 · Journal of Pediatric Gastroenterology and Nutrition
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