Congenital Chloride Diarrhea

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.