Successful therapy for congenital sodium diarrhea by enteral management: A case report.

Background: Congenital sodium diarrhea (CSD) is a rare disorder causing electrolyte imbalances due to excessive diarrhea. In pediatric literature, common practice for treating CSD includes parenteral nutrition (PN) for fluid, nutrient, and electrolyte support through the first year of the patient's life. The aim of this study was to report a neonate who showed common symptoms of CSD, including a distended abdomen, large amounts of clear, yellow fluid draining from the rectum, dehydration, and electrolyte abnormalities.

Case Summary: A diagnostic gene panel was completed and confirmed heterozygous variant GUCY2C gene associated with autosomal dominant CSD. The infant was initially treated with PN to maintain fluid, nutrient, and electrolyte status, but was subsequently transitioned to full enteral feeds, showing improvement in symptoms. Frequent therapy adjustments were required to maintain appropriate electrolyte levels during the duration of the hospital stay. At discharge, the infant followed an enteral fluid maintenance plan that provided symptomatic control through the first year of life.

Conclusion: This case demonstrated the ability to maintain electrolyte levels in a patient through enteral means while avoiding long-term use of intravenous access.