New mutation in EPCAM for congenital tufting enteropathy: A case report.

ABSTRACT:

Background

Congenital tufting enteropathy (CTE) is a rare cause of diarrhea in children. However, it can result in early-onset of chronic diarrhea and failure to thrive. Children with this disease have to depend on total parenteral nutrition (TPN), and eventually small intestine transplantation. The epithelial cell adhesion molecule (EPCAM) gene was identified to be associated with CTE. Here, we present a case of an infant with CTE due to a mutation not reported in the literature before.

Case summary

A 1-year and 7-mo infant boy exhibited intractable watery diarrhea and mushy stool within 1 wk after birth, for which he had required medical treatment and hospitalization several times. His sister presented similar symptoms and died at the age of two. On admission, his b

SUBMITTER: Zhou YQ 

PROVIDER: S-EPMC7642537 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature