Case Report
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Oct 26, 2020; 8(20): 4975-4980
Published online Oct 26, 2020. doi: 10.12998/wjcc.v8.i20.4975
New mutation in EPCAM for congenital tufting enteropathy: A case report
Yan-Qiong Zhou, Guo-Sheng Wu, Yuan-Mei Kong, Xiao-Yuan Zhang, Chun-Lin Wang
Yan-Qiong Zhou, Yuan-Mei Kong, Xiao-Yuan Zhang, Chun-Lin Wang, Department of Pediatrics, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, Zhejiang Province, China
Guo-Sheng Wu, Department of Colorectal and Anal Surgery, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, Zhejiang Province, China
Author contributions: Wu GS and Wang CL substantially contributed to conception or design; Zhou YQ, Kong YM, and Zhang XY contributed to acquisition, analysis, or interpretation of data; Zhou YQ drafted the manuscript; Kong YM and Zhang XY conducted the experiment; All authors have read and approved the final manuscript.
Supported by Key Research and Development Program of Zhejiang Province, China, No. 2020C03121.
Informed consent statement: The patient’s legal guardian has provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The author(s) declared no conflicts of interests with regard to the research, authorship, and/or publication of this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Chun-Lin Wang, PhD, Chief Doctor, Department of Pediatrics, The First Affiliated Hospital, Zhejiang University School of Medicine, No. 79 Qingchun Road, Hangzhou 310003, Zhejiang Province, China. hzwangcl@zju.edu.cn
Received: June 12, 2020
Peer-review started: June 12, 2020
First decision: August 21, 2020
Revised: August 31, 2020
Accepted: September 10, 2020
Article in press: September 10, 2020
Published online: October 26, 2020
Processing time: 132 Days and 3.5 Hours
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 body weight was 5700 g (-4.8SDS) and measured 66 cm (-5.4SDS) in height. Meanwhile, he cannot speak or climb. He exhibited mild anemia, hypocalcemia, hypomagnesemia, and an infection in the upper respiratory tract. Microvilli sparse and vacuolar degeneration of epithelial cells were reported by small intestine biopsy. Whole-exome sequencing showed a novel homozygous splice mutation (c.657+1[IVS6] G>A) in the EPCAM gene. He was treated with TPN and recombinant human growth hormone. After 2 mo, his body weight was up to 8500 g and he has been waiting for small bowel transplantation.

CONCLUSION

CTE is rare but fatal. Patients with CTE require rapid diagnosis and therapy to improve their survival.

Keywords: Congenital tufting enteropathy; Congenital diarrhea; Failure to thrive; Children; Case report

Core Tip: Congenital tufting enteropathy (CTE) is a rare cause of congenital diarrheal disorders. Patients suffering from CTE are characterized by intractable watery diarrhea and severe malnutrition throughout their life. They depend on total parenteral nutrition to sustain their weight and eventually small intestine transplantation. We reported the case of an infant with severe watery diarrhea and failure to thrive who was subsequently found to have a new mutation in epithelial cell adhesion molecule gene (c.657+1[IVS6] G>A). Patients with CTE require rapid diagnosis and therapy to improve their survival.