Case report of tufting-enteropathy: course of the disease, complexity of morphological diagnosis

Abstract

Tufting enteropathy (TE) is a rare autosomal recessive disease characterized by diarrhea starting in the neo-natal period. This disease was first described in 1994 by Reifen R.M. et al. The disease is caused by muta-tions in the cell adhesion molecule EpCAM. TE is characterized by alterations in the intestinal epithelium: surface enterocytes are primarily affected, and they form tufts. At the ultrastructural level, this disease is characterized by an increase in the length and number of desmosomes. This paper presents a clinical case of TE in a 3-month-old boy who was diagnosed based on clinical and morphological, electron microscopy findings. Diarrheal syndrome developed in the patient from the second day of life and persisted regardless of enteral nutrition and led to severe exsicosis. Keywords: tufting enteropathy, diarrhea, desmosome, enterocyte, microvilli