CC BY-NC-ND 4.0 · AJP Rep 2023; 13(04): e61-e64
DOI: 10.1055/s-0043-1776148
Case Report

Congenital Sodium Diarrhea: Antenatal Diagnosis May Prevent Unnecessary Surgery in the Neonate

1   Department of Obstetrics and Gynecology, University of California, Irvine, Orange, California
Virginia Tancioco
1   Department of Obstetrics and Gynecology, University of California, Irvine, Orange, California
Vineet K. Shrivastava
2   Department of Obstetrics and Gynecology, Miller Children's and Women's Hospital, Long Beach, California
› Author Affiliations


Congenital sodium diarrhea (CSD) is a rare, life-threatening condition characterized by intractable diarrhea, hyponatremia, and metabolic acidosis. It presents similarly to other congenital disorders and, therefore, is often misdiagnosed and mistreated.

We present a case of CSD that presented with dilated loops of bowel and polyhydramnios at 18 weeks and was thought to be a congenital bowel obstruction. The patient was therefore managed surgically after birth with a diverting ileostomy, however was later found to have elevated stool sodium levels and metabolic derangements consistent with CSD.

Our case demonstrates the need for high index of suspicion for congenital diarrheal disorders to prevent unnecessary surgery and a delay in appropriate medical management of this rare condition.

Publication History

Received: 12 October 2020

Accepted: 08 August 2023

Article published online:
06 November 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (

Thieme Medical Publishers, Inc.
333 Seventh Avenue, 18th Floor, New York, NY 10001, USA

  • References

  • 1 Heinz-Erian P, Müller T, Krabichler B. et al. Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea. Am J Hum Genet 2009; 84 (02) 188-196
  • 2 Janecke AR, Heinz-Erian P, Yin J. et al. Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea. Hum Mol Genet 2015; 24 (23) 6614-6623
  • 3 Khan R, Sanders M, Ernst L, Egan J, Campbell W. Association between placental mineral deposition, villous architecture and fetal aneuploidy. J Obstet Gynaecol 2010; 30 (08) 800-803
  • 4 Ernst LM, Parkash V. Placental pathology in fetal Bartter syndrome. Pediatr Dev Pathol 2002; 5 (01) 76-79
  • 5 Holmberg C, Perheentupa J. Congenital Na+ diarrhea: a new type of secretory diarrhea. J Pediatr 1985; 106 (01) 56-61
  • 6 Langer JC, Winthrop AL, Burrows RF, Issenman RM, Caco CC. False diagnosis of intestinal obstruction in a fetus with congenital chloride diarrhea. J Pediatr Surg 1991; 26 (11) 1282-1284
  • 7 Lee DH, Park YK. Antenatal differential diagnosis of congenital chloride diarrhea: a case report. J Obstet Gynaecol Res 2012; 38 (06) 957-961
  • 8 Mustafa OM, Al-Aali WY. Honeycomb fetal abdomen: characteristic sign of congenital chloride diarrhea. Ultrasound Obstet Gynecol 2016; 48 (06) 797-799
  • 9 Hirakawa M, Hidaka N, Kido S, Fukushima K, Kato K. Congenital chloride diarrhea: accurate prenatal diagnosis using color Doppler sonography to show the passage of diarrhea. J Ultrasound Med 2015; 34 (11) 2113-2115
  • 10 Colombani M, Ferry M, Toga C. et al. Magnetic resonance imaging in the prenatal diagnosis of congenital diarrhea. Ultrasound Obstet Gynecol 2010; 35 (05) 560-565