Congenital Chloride Diarrhea Diagnosed by Gene-Sequencing: A Case Report

Abstract

We report a rare case of congenital chloride diarrhea (CCD) where a definite diagnosis was achieved by gene-sequencing examination. The boy was born at 37 weeks of gestation. He had intestinal dilatation with hydramnion identifiable by antenatal ultrasonography and magnetic resonance imaging (MRI) since 29 weeks of gestation. After birth, the patient had watery diarrhea and stool with high Cl- level of 149 mEq/ l (normal: 7–20 mEq/ l). By gene-sequencing examination, SLC26A3 gene mutation was found, and a definite diagnosis for CCD was established. If antenatal intestinal dilatation is indicated at the fetal stage, the rare disease CCD may be suspected, and differential diagnosis should be considered.