Intestinal Epithelial Cell Dysplasia (IED), also known as Congenital Tufting Enteropathy (CTE), is a rare autosomal recessive disorder characterized by early-onset severe intractable diarrhea that may cause irreversible intestinal failure. The prevalence is still unknown, however, it seems that it is higher among Arabs than other populations. IED exhibits a clinical and histological heterogeneity. It is also associated with malformations or other epithelial diseases, and related to abnormal enterocytes development and/or differentiation.
Diagnosis is based on performing repeated intestinal biopsies; revealing the characteristic tufts. Detection also depends on specific abnormalities of basement membrane components in parts of mucosa, but these are rare and difficult to detect in the absence of tufts.
Congenital Tufting Enteropathy is a life-threatening disease, due to the rapid dehydration and electrolyte imbalance, with subsequent metabolic decompensation within a few days after birth because of diarrhea. This neonatal diarrhea, resists all treatments, it requires permanent parenteral nutrition, also intestinal transplant is usually recommended in severe cases.
Salomon et al. (2011) reported seven multiplex consanguineous Kuwaiti and Qatari families affected with Congenital Tufting Enteropathy (CTE).
[See: Kuwait > Salomon et al., 2011].