False diagnosis of intestinal obstruction in a fetus with congenital chloride diarrhea

Langer, Jacob C.; Winthrop, Andrea; Burrows, Robert F.; Issenman, Robert M.; Caco, Christopher

doi:10.1016/0022-3468(91)90599-o

Cited by 31 publications

(27 citation statements)

References 16 publications

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“…Polyhydramnios typically suggests obstruction of the upper gastrointestinal tract, and signs of bowel dilatation suggest lower intestinal obstruction. Thus, polyhydramnios coexisting with intestinal dilatation are findings that are observed in obstruction of the upper or lower small intestine, meconium peritonitis, Bartter syndrome, and Hirschsprung’s disease, so differentiating these conditions from CCD is difficult [9–13,19]. Lundkvist et al reported that prenatal ultrasound findings distinguishing CCD from lower intestinal atresia were: 1) severe polyhydramnios and the need for repeated amniocentesis; 2) a distended bowel noted throughout the fetus’ abdominal cavity; and 3) normal peristalsis in the distended bowel [9].…”

Section: Discussionmentioning

confidence: 99%

Congenital Chloride Diarrhea (CCD): A Case Report of CCD Suspected by Prenatal Ultrasonography and Magnetic Resonance Imaging (MRI)

Kawamura

Nishiguchi

2017

Am J Case Rep

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Patient: Male, new bornFinal Diagnosis: Congenital chloride diarrheaSymptoms: DiarrheaMedication: —Clinical Procedure: —Specialty: Obstetrics and GyneolcogyObjective:Congenital defects/diseasesBackground:Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder that is difficult to distinguish from fetal lower intestinal obstruction. A prenatal diagnosis will make a contribution to the prognosis of the newborn.Case Report:We report a rare case of congenital chloride diarrhea (CCD) prenatally suspected by ultrasound and MRI. The prenatal ultrasound revealed signs of intestinal dilatation suggesting lower intestinal obstruction. MRI findings also revealed intestinal dilatation that continued from the rectum. On T1-weighted images, fluid accumulation within the bowel was hypointense. CCD was strongly suspected rather than obstruction of the lower intestinal tract or Hirschsprung’s disease. At 37 weeks and 3 days’ gestation, cesarean section was performed because of fetal distress. The newborn was a 2396 g male with the Apgar scores 8 (1 min) and 9 (5 min). Watery diarrhea subsequently persisted, and on the 3rd day, hyponatremia and hypochloremia were present. The infant stool was hyperchloremic, so we diagnosed CCD.Conclusions:When ultrasonography reveals signs of fetal gastrointestinal dilatation, lower intestinal obstruction is considered first. CCD is infrequent and has signs of intestinal dilatation similar to those of other intestinal ailments, so distinguishing these conditions is difficult. However, if CCD is suspected early, then use of MRI will allow its diagnosis. If the condition is diagnosed before birth, the prognosis of the newborn will improve.

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Section: Discussionmentioning

confidence: 99%

Congenital Chloride Diarrhea (CCD): A Case Report of CCD Suspected by Prenatal Ultrasonography and Magnetic Resonance Imaging (MRI)

Kawamura

Nishiguchi

2017

Am J Case Rep

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“…But the prognosis is very good if diagnosed early and treated appropriately with lifelong sodium chloride and potassium chloride replacement. 3 Congenital chloride diarrhea is inherited as an autosomal recessive trait affecting both sexes. There have been 2 siblings affected in several families in Finland.…”

Section: Discussionmentioning

confidence: 99%

Congenital chloride diarrhea: antenatal ultrasonographic findings in siblings.

Kim

2001

J of Ultrasound Medicine

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“…Hydramnios and the multiple bubble sign in the fetal abdomen, presumably due to intrauterine onset of the diarrhea, is a constant prenatal sign of the disease, which may lead to suspicion of intestinal obstruction. 4 A family history may help to differentiate congenital chloride diarrhea from obstruction in a fetus with polyhydramnios. 1,4 Pediatricians should include congenital chloride diarrhea in the differential diagnosis of intestinal obstruction, so that they can begin early treatment of congenital chloride diarrhea.…”

Section: Discussionmentioning

confidence: 99%

“… 4 A family history may help to differentiate congenital chloride diarrhea from obstruction in a fetus with polyhydramnios. 1,4 Pediatricians should include congenital chloride diarrhea in the differential diagnosis of intestinal obstruction, so that they can begin early treatment of congenital chloride diarrhea. This treatment consists of lifelong administration of electrolytes.…”

Section: Discussionmentioning

confidence: 99%