OBJECTIVE: Congenital diarrhea is very rare, and postnatal diagnosis is often made once the condition has caused potentially lethal fluid loss and electrolyte disorders. Prenatal detection is important to improve the immediate neonatal prognosis. We aimed to describe the prenatal ultrasound and magnetic resonance (MRI) imaging findings in fetuses with congenital diarrhea. METHODS: The study reports the pre- and postnatal findings in four fetuses that presented with generalized bowel dilatation and polyhydramnios. We analyzed the fetal ultrasound and MRI examinations jointly, then compared our provisional diagnosis with the amniotic fluid biochemistry and subsequently with the neonatal stool characteristics. RESULTS: In each of the four cases an ultrasound examination between 22 and 30 weeks' gestation showed moderate generalized bowel dilatation and polyhydramnios suggesting intestinal obstruction. MRI examinations performed between 24 and 32 weeks' gestation confirmed that the dilatation was of gastrointestinal (GI) origin, with a signal indicating intraluminal water visible throughout the small bowel and colon. The expected hypersignal on T1-weighted sequences characteristic of physiological meconium was absent in the colon and rectum. This suggested that the meconium had been completely diluted and flushed out by the water content of the bowel. The constellation of MRI findings enabled a prenatal diagnosis of congenital diarrhea. The perinatal lab test findings revealed two cases of chloride diarrhea and two of sodium diarrhea. CONCLUSION: Congenital diarrhea may be misdiagnosed as intestinal obstruction on prenatal ultrasound but has characteristic findings on prenatal MRI enabling accurate diagnosis; this is important for optimal neonatal management. Copyright 2010 ISUOG. Published by John Wiley & Sons, Ltd.
OBJECTIVE:Congenital diarrhea is very rare, and postnatal diagnosis is often made once the condition has caused potentially lethal fluid loss and electrolyte disorders. Prenatal detection is important to improve the immediate neonatal prognosis. We aimed to describe the prenatal ultrasound and magnetic resonance (MRI) imaging findings in fetuses with congenital diarrhea. METHODS: The study reports the pre- and postnatal findings in four fetuses that presented with generalized bowel dilatation and polyhydramnios. We analyzed the fetal ultrasound and MRI examinations jointly, then compared our provisional diagnosis with the amniotic fluid biochemistry and subsequently with the neonatal stool characteristics. RESULTS: In each of the four cases an ultrasound examination between 22 and 30 weeks' gestation showed moderate generalized bowel dilatation and polyhydramnios suggesting intestinal obstruction. MRI examinations performed between 24 and 32 weeks' gestation confirmed that the dilatation was of gastrointestinal (GI) origin, with a signal indicating intraluminal water visible throughout the small bowel and colon. The expected hypersignal on T1-weighted sequences characteristic of physiological meconium was absent in the colon and rectum. This suggested that the meconium had been completely diluted and flushed out by the water content of the bowel. The constellation of MRI findings enabled a prenatal diagnosis of congenital diarrhea. The perinatal lab test findings revealed two cases of chloridediarrhea and two of sodiumdiarrhea. CONCLUSION:Congenital diarrhea may be misdiagnosed as intestinal obstruction on prenatal ultrasound but has characteristic findings on prenatal MRI enabling accurate diagnosis; this is important for optimal neonatal management. Copyright 2010 ISUOG. Published by John Wiley & Sons, Ltd.