title: Intractable diarrhea with tufting enteropathy: a favorable outcome is possible.
abstract: OBJECTIVE
  Tufting enteropathy (TE) is a congenital abnormality of intestinal mucosa development characterized by severe intestinal failure requiring parenteral nutrition (PN) and, in some cases, small bowel transplantation. A few patients have had a more favorable outcome. The objective of this study was to evaluate possible correlations between histological lesion severity in duodenal biopsies and clinical outcomes in children with TE.
  
  
  METHODS
  We retrospectively reviewed the records of patients diagnosed with TE between 1993 and 2003 at our institution based on intractable neonatal-onset diarrhea with prolonged dependence on PN and duodenal biopsy findings of villous atrophy, epithelial dysplasia with enterocyte dedifferentiation and disorganization (tufting) of the surface epithelium, and crypt abnormalities. The histological lesions were assessed semiquantitatively and compared with the clinical outcomes including dependence on PN.
  
  
  RESULTS
  Seven children, all from consanguineous parents, were studied for a median of 6.5 years. Three were permanently weaned off PN and experienced normal growth without nutritional assistance. Initial biopsies in all 3 children showed severe diffuse histological lesions. At weaning off PN, 2 of these 3 patients had persistent, although less diffuse, histological lesions.
  
  
  CONCLUSIONS
  Progressive weaning off PN is possible in some children with TE. In our experience, this favorable outcome was not predicted by histological lesion severity, although the lesions improved in some patients. New biomarkers for identifying the histological lesions and predicting the outcome would be useful.
authors.affiliation: Gastroenterology and Nutrition, Department of Pediatrics, APHP, Hôpital Armand Trousseau, Université Pierre et Marie Curie, Paris, France. julie.lemale@trs.aphp.fr
authors.forename: Julie
authors.initials: J
authors.lastname: Lemale
authors.forename: Aurore
authors.initials: A
authors.lastname: Coulomb
authors.forename: Béatrice
authors.initials: B
authors.lastname: Dubern
authors.forename: Sabah
authors.initials: S
authors.lastname: Boudjemaa
authors.forename: Sheila
authors.initials: S
authors.lastname: Viola
authors.forename: Patrice
authors.initials: P
authors.lastname: Josset
authors.forename: Patrick
authors.initials: P
authors.lastname: Tounian
authors.forename: Jean-Philippe
authors.initials: JP
authors.lastname: Girardet
mesh_terms: D003967:Diarrhea / Q000209:etiology / Q000628:therapy*; D004386:Duodenum / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007410:Intestinal Diseases / Q000150:complications / Q000473:pathology / Q000628:therapy*; D007413:Intestinal Mucosa / Q000002:abnormalities* / Q000473:pathology*; D008297:Male; D010288:Parenteral Nutrition; D012189:Retrospective Studies; D016896:Treatment Outcome