Prenatal Differential Diagnosis of Congenital Chloride Diarrhea: The Importance of a Dilated Fluid-Filled Rectum

Introduction

Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder which results from a dysfunction in electrolyte transport across the brush border of the bowel wall [1] [2]. Prenatal ultrasonographic features of CCD include multiple dilated bowel loops and polyhydramnios [3] [4]. However, these findings frequently lead to a misdiagnosis of bowel obstruction, which is a surgically treatable condition. We describe here the more specific ultrasonographic findings that can be used to correctly diagnose CCD prenatally.

References

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