Tufting enteropathy with EpCAM mutation: case report Enteropatia com formação de tufos epiteliais e mutação do gene EpCAM: relato de caso

ABStrACt Tufting enteropathy (TE), also known as intestinal epithelial dysplasia (IED), is a rare congenital enteropathy related to an early-onset of severe intractable diarrhea due to specific abnormalities of the intestinal epithelium and mutations of the EpCAM gene. TE is characterized by clinical and histological heterogeneity, such as with low or without mononuclear cell infiltration of the lamina propria, and abnormalities of basement membrane. TE can be associated with malformations, other epithelial diseases, or to abnormal enterocytes development and/or differentiation. The authors report a case of a Brazilian child with TE associated with c.556-14A>G mutation in the EpCAM gene (NM_002354.2).Key words: tufting enteropathy; intractable diarrhea; intestinal mucosa; epithelial cell adhesion molecule; EpCAM gene. introDuCtion Tufting enteropathy (TE), also known as intestinal epithelial dysplasia (IED), is a rare disorder that causes chronic watery diarrhea, and is characterized by the presence of focal epithelial “tufts” composed of clusters of closely packed enterocytes with round, teardrop-shaped projections in the apical cytoplasm. TE is present in the first few months of life, and most patients require total parenteral nutrition to acquire adequate caloric and fluid intake for normal growth and development