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Yim, Jo, Jang, Lee, and Lee: Congenital chloride diarrhea
Case Report
Korean Journal of Obstetrics & Gynecology

Korean Journal of Obstetrics & Gynecology 2012; 55(8): 573-577.

Published online: 17 August 2012

DOI: https://doi.org/10.5468/KJOG.2012.55.8.573

Congenital chloride diarrhea

Seon Min Yim, MD1, Yun Sung Jo, MD1, Dong Gyu Jang, MD1, Jung Hyun Lee, MD2, Guisera Lee, MD1

1Department of Obstetrics and Gynecology, St. Vincent's Hospital, The Catholic University of Korea School of Medicine, Suwon, Korea.

2Department of Pediatrics, St. Vincent's Hospital, The Catholic University of Korea School of Medicine, Suwon, Korea.

Corresponding author: Guisera Lee, MD. Department of Obstetrics and Gynecology, St. Vincent's Hospital, The Catholic University of Korea School of Medicine, 93 Jungbu-daero, Paldal-gu, Suwon 442-723, Korea. Tel: +82-31-249-7300, Fax: +82-31-254-7481, leegsr@catholic.ac.kr

Received 23 December 2011       Revised 5 April 2012       Accepted 16 April 2012

Copyright © 2012. Korean Society of Obstetrics and Gynecology

(open-access):

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

A 28-year-old primigravida woman had marked polyhydramnios and multiple dilated bowel loops were seen in the fetal abdomen on prenatal ultrasound, we suspected the ileal atresia. After birth by preterm premature rupture of the membrane at 33 weeks, imaging studies showed dilated bowels without evidence of intestinal obstruction or intestinal atresia. The neonate had watery diarrhea like urine and measurement of ionic content of the stool led to the diagnosis of congenital chloride diarrhea (CCD). The neonate was placed on sodium and potassium chloride supplements, and his condition was improved. CCD is a rare, inherited condition caused by an abnormality of intestinal electrolyte transport. This case illustrates that it may present prenatally with a picture similar to that seen with intestinal obstruction including ileal atresia.

Keywords: Congenital chloride diarrhea, Ileal atresia, Polyhydramnios

Figures and Tables

Fig. 1
Antenatal sonogram of fetus at 27 weeks of gestation showing multiple dilated bowel loops.
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Fig. 2
Bowel loops are distended with gas.
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Fig. 3
Barium enema shows that colon loops were prominently distended without obstruction.
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Fig. 4
Small bowel series shows no evidence obstruction of small bowel loops.
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