Korean J Obstet Gynecol.  2012 Aug;55(8):573-577. 10.5468/KJOG.2012.55.8.573.

Congenital chloride diarrhea

• Yim SM
• Jo YS
• Jang DG
• Lee JH
• Lee G

• KMID: 2078107
• DOI: http://doi.org/10.5468/KJOG.2012.55.8.573

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.

Keyword

Congenital chloride diarrhea; Ileal atresia; Polyhydramnios

MeSH Terms

Abdomen
Adult
Diarrhea
Female
Humans
Infant, Newborn
Intestinal Atresia
Intestinal Obstruction
Membranes
Metabolism, Inborn Errors
Parturition
Polyhydramnios
Potassium Chloride
Rupture
Sodium
Diarrhea
Metabolism, Inborn Errors
Potassium Chloride
Sodium

Figure

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  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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