Honeycomb-like abdomen and polyhydramnios: congenital chloride diarrhea in fetal ultrasound. A case report

Introduction Congenital chloride diarrhea (CCD), a rare autosominal recessive disorder underlies a mutation in the SLC26A3 gene. It manifests in utero with polyhdramnios and severe bowel dilatation due to disturbed fluid absorption in the gastrointestinal tract. Watery diarrhea with high Cl^- levels, electrolyte imbalance and metabolic acidosis occur, which, if left untreated, will cause severe morbidity and even neonatal mortality. Treatment consists of a lifelong salt substitution. This report aims to describe the typical sonographic prenatal signs of a rare disease, the CCD.

Case report A healthy 29-years old IIG IIP in the 29 6/7 weeks of gestation (GW) with regular pregnancy history showed increasing amniotic fluid (AF). The 20-week ultrasound scan showed honeycomb-like dilated bowels and an AF index of 33 cm. Oral glucose tolerance test was repeated and TORCH infections screening test was performed, both displaying negative results. By 30 GW, the patient complained about rising dyspnea due to increasing AF. She was admitted to our clinic in order to perform fetal lung maturation and amniocentesis for AF drainage. Array-CGH analyses showed normal results. The results of the trio exome sequencing however revealed a homozygous SLC26A3 mutation, coding for CCD. At 35 GW preterm premature rupture of the membranes with meconium-stained AF occurred, labour started with the delivery of a 2800g female newborn with an Apgar of 7-8-8. The newborn was admitted to the neonatology unit, where respiratory support was provided until the 3rd postnatal day. An electrolyte substitution with NaCl and KCl was set up immediately and subsequently integrated to a normal diet.

Conclusion CCD is a rare genetic disorder with early and typical manifestation in utero. Single case reports have described the same sonographic findings of polyhydramnios going along with honeycomb-like dilated bowls. Awareness about these typical ultrasound findings and thus prenatal diagnosis of CCD allows a prompt and adequate neonatal treatment to reduce the risk of neonatal morbidity and mortality.

 

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Publication History

Article published online:
15 November 2023