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Intractable Diarrhea With Tufting Enteropathy: A Favorable Outcome Is Possible

Lemale, Julie*; Coulomb, Aurore; Dubern, Béatrice*; Boudjemaa, Sabah; Viola, Sheila*; Josset, Patrice; Tounian, Patrick*; Girardet, Jean-Philippe*

Journal of Pediatric Gastroenterology and Nutrition: June 2011 - Volume 52 - Issue 6 - p 734–739
doi: 10.1097/MPG.0b013e31820731db
Original Articles: Gastroenterology

Background and 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.

Patients and 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.

*Gastroenterology and Nutrition, Department of Pediatrics, France

Department of Pathology, APHP, Hôpital Armand Trousseau, Université Pierre et Marie Curie, Paris, France.

Received 6 April, 2010

Accepted 8 November, 2010

Address correspondence and reprint requests to Julie Lemale, Gastroentérologie et Nutrition Pédiatrique, Hôpital Armand Trousseau, 26 Avenue du Dr Arnold Netter, 75012 Paris, France (e-mail: julie.lemale@trs.aphp.fr).

The authors report no conflicts of interest.

Copyright 2011 by ESPGHAN and NASPGHAN