A Case of CLD Diagnosed In a Newborn After Surgical Treatment of Ileus

Background: Congenital chloride diarrhea (CLD) is a rare autosomal recessive genetic disorder. The main symptom is osmotic diarrhea with high chloride content due to the mutations in solute carrier family 26 member 3 (SLC26A3) gene encoding the intestinal Cl^-/HCO₃^- exchanger. In Korea and other East Asian countries, only a couple of cases have been reported.

Case report: The patient was born at 34 weeks and 5 days of gestation and had a birthweight of 3.13 kg. He had a history of polyhydramnios and a noticeable dilated fetal bowel loops before birth. On day 1 of birth, the patient exhibited severe abdominal distension, vomiting, and biliary reflux. Because of suspected ileus, surgery was performed, and the surgical findings were ileus caused by Meckel`s diverticulum and consequent band formation. Wedge resection (diverticulum resection) of the ileum was performed, and the patient was discharged from the NICU with reduced symptoms. After discharge, however, he was hospitalized several times with intermittent postoperative abdominal distension and metabolite imbalances.

The patient, a 5-month-old male infant, was admitted with repeated vomiting and abdominal distension, accompanied with watery stool confused with urine. We suspected CLD and measured chloride level in stool. Watery stool was collected using a rectal tube, and the chloride level was 137 mEq/L, confirming excessive chloride in watery stool. On genetic testing, we confirmed SLC26A3 gene mutation, and CLD was diagnosed.

Discussion: This case report describes an infant who initially underwent surgical treatment for ileus induced by Meckel`s diverticulum and congenital band. Even after surgery, the patient continued to exhibit abdominal distension. The initial suspicion should be made on prenatal ultrasound, and patients with severe abdominal distension and chronic diarrhea should be tested for the possibility of CLD. Stool examination confirmed high-chloride content diarrhea and genetic testing led to a final diagnosis of CLD.