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

Abstract

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.