P22.06: Prenatal bowel dilatation and congenital chloride diarrhea: a case report

Abstract

Congenital chloride diarrhoea (CCD) is a rare autosomal recessive disorder in which the transport of chloride in the distal ileum is disrupted. This is medically treatable condition but is easy to be misdiagnosed as a surgically treatable condition such as small-bowel atresia. A 28-year-old primigravida woman was referred at 34 weeks 2 days for evaluation of fetal dilated bowel loops and polyhydramnios. Her familial and medical histories were unremarkable. A sonographic examination showed a single fetus with generalized dilatation of the bowel in right side of the abdomen and polyhydramnios (amniotic fluid index, 30.48). Serial follow-up scans showed no notable change. Fetal growth was appropriate for the gestational age. We suspected distal small bowel obstruction or ileal atresia and consulted to pediatric surgery for postnatal surgery. At 37 weeks 2 day, she was admitted for premature rupture of membrane. The next day she had an uneventful spontaneous delivery of a female infant. After birth the neonate had slightly distended abdomen and yellowish watery diarrhoea without meconium passage. An infantogram after birth showed mild bowel gas distension without evidence of intestinal obstruction, small bowel series showed no small bowel transit time delay and diffuse gas distended colon without obstruction. She had hyponatremic metabolic alkalosis and hypochloridemia. The stool chloride concentration was high, 101 mmol/L (reference value < 90 mmol/L), confirming the diagnosis of CCD. She was discharged with sodium chloride for electrolyte correction. Supporting information can be found in the online version of this abstract. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.