ArticleRadiology case reports2025
Prenatally suspected and clinically diagnosed congenital chloride diarrhea.
Article in Radiology case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder resulting from mutations in the SLC26A3 gene, leading to significant electrolyte imbalances and watery diarrhea starting in the prenatal period. Although prenatal diagnosis is ideal, many cases are identified postnatally. This case report details an 18-year-old primigravid lady in her third trimester who presented with severe polyhydramnios and fetal bowel dilation observed via ultrasound. The report underscores the necessity of maintaining a high index of suspicion for CCD during prenatal evaluations and emphasizes the importance of clinical diagnosis in resource-limited settings.
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