Antenatal differential diagnosis of congenital chloride diarrhea: A case report

• Published in: The journal of obstetrics and gynaecology research Vol. 38; no. 6; pp. 957 - 961
• Main Authors: Lee, Dae Hyung, Park, Yoon Ki
• Format: Journal Article
• Language: English
• Published: Melbourne, Australia Blackwell Publishing Asia 01.06.2012
• Subjects: Adult; antenatal differential diagnosis; congenital chloride diarrhea; Diagnosis, Differential; Diarrhea - congenital; Diarrhea - diagnostic imaging; Diarrhea - embryology; Diarrhea - physiopathology; Diarrhea - therapy; Female; fetal ultrasound; Fluid Therapy; honeycomb; Humans; Infant, Newborn; Intestines - diagnostic imaging; Intestines - embryology; Male; Metabolism, Inborn Errors - diagnostic imaging; Metabolism, Inborn Errors - embryology; Metabolism, Inborn Errors - physiopathology; Metabolism, Inborn Errors - therapy; polyhydramnios; Polyhydramnios - etiology; Pregnancy; Treatment Outcome; Ultrasonography, Prenatal
• ISSN: 1341-8076; 1447-0756; 1447-0756
• DOI: 10.1111/j.1447-0756.2012.01876.x

Congenital chloride diarrhea (CCD) is a rare disease characterized by profound, watery diarrhea. It is inherited as an autosomal recessive trait and is caused by a dysfunction of electrolyte transport in the brush border of the ileum. CCD is a medically treatable condition but is frequently misdiagnosed as a surgically treatable condition, such as bowel obstruction, because of similar antenatal ultrasonographic findings. Therefore, a correct diagnosis is of upmost importance before treatment initiation. Although some methods for antenatal differential diagnosis were reported, antenatal diagnosis of CCD remains difficult. Here, we report the case of a patient with CCD, which was presumed antenatally and confirmed postnatally. We also discuss the results of antenatal ultrasonography and amniocentesis and provide some tips regarding ultrasonographic findings for the antenatal differential diagnosis of CCD. Further, we present a brief literature review.