Congenital tufting enteropathy is a inherited disorder of the small intestine that presents with intractable diarrhoea in young children.
The first cases appears to have been reported in 1978 by Davidson et al.[1] These authors reported a five cases of intractable diarrhoea four of whom died. Post mortum showed a thin and dilated intestine with flat small bowel mucosa. A number of jejunal biopsies had been taken during life and these showed partial villous atrophy with by crypt hyperplasia and an increased number of mitotic figures in the crypts. Normal numbers and types of mononuclear cells were present in the lamina propria. Most notably focal epithelial tufts were found on the surface epithelium. These tufts were composed of closely packed enterocytes with apical rounding of the plasma membrane, resulting in a teardrop configuration of the cells. Inclusion bodies or secretory granules were not visualised on transmission electron microscopy within the cytoplasm of the villous enterocytes.
Reifen et al reported 2 additional cases in 1994 and coined the name congenital tufting enteropathy.[2]