Congenital tufting enteropathy : diagnostic features and management difficulties

Abstract

Congenital tufting enteropathy (CTE) is a congenital abnormality of intestinal mucosa development presenting with early-onset severe intractable diarrhea causing severe intestinal failure and requiring long-term parenteral nutrition and in some cases small bowel transplantation. We report a case of CTE diagnosed at 35 days of life to illustrate the diagnostic and management difficulties of this rare disease, to report the various complications related to the treatment and to describe the clinical, histological and genetic heterogeneity of CTE.