Case Report:
This is a 20-year-old-primigravida. The two parents have a consanguineous history. The first trimester screening was normal. The second scan was also normal. At 32 weeks the patient had some uterine contractions and a scan was performed and revealed some intestinal abnormalities and polyhydramnios. An amniocentesis was performed to request a karyotype and also for uterine decompression. At 33 weeks a moderate polyhydramnios was present. The fetus had dilated, fluid filled small bowel throughout the abdomen with minimal peristalsis. The stomach seemed compressed by the small bowel dilatation. There was a unilateral hydrocele without repercussion.
Unfortunately, the patient delivered vaginally at 33 weeks. The baby was male with a slightly distended abdomen. Abdominal and contrast colon radiography were normal. The passage of meconium was not observed initially. There was no vomiting, but an abdominal distension. At day 2, the baby had loose watery stools. The baby had metabolic alkalosis and abnormal laboratory variables (serum Na+, 102 mmol/l, Serum K+, 2,5 mmol/l and serum Cl = mmol/l. Further investigation discovered a fecal concentration of Na+ (25 mmol/l), K+ (48 mmol/l), and Cl- (46 mmol/l).
The previous and following findings were suggestive of a congenital chloride diarrhea:
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polyhydramnios
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normal radiographic findings
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no vomiting, no passage of meconium and normal stools
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abdominal distension
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hyperbilirubinemia, hyponatremia, hypokalemia and hypochloremic and metabolic alkalosis.
This was confirmed by the high fecal chloride concentration. A few days later, we received the amniocentesis results (normal karyotype). But chloride levels were high.
Note the small bowel dilatation