The coexistence of duodenal atresia (DA) may mask the antenatal ultrasound findings of meconium ileus (MI) and delay its postnatal diagnosis. We report a rare case of MI in a newborn infant diagnosed antenatally to have trisomy 21 and DA. The diagnosis of MI was only established intraoperatively after the patient showed persistent signs of intestinal obstruction following the surgical repair of the DA.
Meconium ileus (MI) is characterized by obstruction of the bowel with inspissated meconium which, in most cases, represents the earliest manifestation of underlying cystic fibrosis.1 The diagnosis of MI is suspected when echogenic bowel and dilated loops are detected in ultrasound screening antenatally and/or when signs of intestinal obstruction and characteristic X-ray findings are observed postnatally. The presence of a family history of cystic fibrosis is suggestive.2, 3, 4 Duodenal atresia (DA) results from failure of recanalization of the solid core of duodenum or from an interruption of its blood supply early in intrauterine development.5,6 It accounts for 25 to 40% of all cases of intestinal atresia with an incidence of 1 in 10 000 live births. The double-bubble sign in prenatal ultrasound scans and postnatal abdominal X-rays characterizes the condition.7,8 As the potential for, and the chances of the occurrence of MI with DA are very unlikely, diagnosis may be unexpected or missed and proper management may be delayed.
A full-term male infant was born to a 31-year-old gravida 2, para1 Caucasian mother whose first pregnancy resulted in a healthy full-term boy. Her antenatal ultrasound identified the double-bubble sign of DA. Subsequent amniocentesis confirmed the diagnosis of trisomy 21. She developed severe polyhydraminos requiring amnio-reduction at 38 weeks gestation. There was no echogenic bowel or dilated loops on repeat fetal ultrasounds. Family history was negative for cystic fibrosis. The baby was born by spontaneous vaginal delivery at gestational age of 39 weeks and birth weight of 2.93 kg. After birth, an abdominal X-ray confirmed the characteristic double-bubble sign of DA with no evidence of dilated bowel, ground glass opacification or calcifications (Figure 1). On his second day of age, the patient underwent duodeno-duodenostomy. For the days following the repair, he failed to pass meconium and developed progressive abdominal distension. An upper gastrointestinal contrast study on day 6 of life did not reveal any anastomotic leak, but there was no passage of the contrast beyond the small intestine. A suction rectal biopsy ruled out Hirchsprung disease. At exploratory laparotomy, the ileum was found to be impacted with copious amount of thick meconium. There was evidence of ischemic small bowel and decompressed microcolon. About 25 cm of small bowel was resected, and an ileostomy and mucous fistula were created. The diagnosis of MI was confirmed by the finding of deep inspissated mucin, and luminal obstruction with meconium on histological examination of the resected bowel. Sweat chloride tests on two occasions were insufficient but a molecular genetic analysis confirmed the diagnosis of cystic fibrosis with the commonest gene mutation of homozygous delta F508del. Fecal elastase test was consistent with pancreatic insufficiency. The infant later succumbed to multiple intra-abdominal surgical complications and intractable infection at 4 months of age.
MI occurs in up to 20% of patients with cystic fibrosis, accounting for an incidence of 0.8 in 10 000 live births.4 On the other hand, the incidence of DA is 1 in 10 000 live births.7 The theoretical coexistence of both conditions is thus estimated to be as rare as 1 in 125 million live births. From the pathophysiological point of view, the occurrence of MI in the presence of DA may not be expected but is not impossible. Meconium is composed of mucous, bile and debris that is shed from the intestinal mucosa in addition to the swallowed amniotic fluid during intrauterine life.9 As the presence of DA causes proximal obstruction for the flow of amniotic fluid to the rest of the gut early in fetal life, the formation of meconium in the distal part of the bowel is expected to be reduced but not completely stopped. Our patient had underlying cystic fibrosis, which, together with the low-fluid bowel-formed meconium and the low gut motility resulting from the proximal DA obstruction, could have facilitated the development of the viscid sticky meconium causing MI.
The diagnosis of MI in our patient was delayed for different reasons: antenatally, the proximal bowel obstruction by DA prevented the development of more distal dilated loops, commonly detected by ultrasound in MI. The coexistence of cystic fibrosis with trisomy 21 was not expected as it is very rare with only a few cases reported in the literature.10, 11, 12, 13 There has not been any previous report of the coexistence of MI with trisomy 21 or with DA. Following DA repair, it is not unexpected to have delayed signs of intestinal obstruction for a few days. As our patient was a boy with trisomy 21, the possibility of having Hirchsprung disease was reasonably entertained and lead to more diagnostic delay. In addition, there was no family history of cystic fibrosis and the postnatal abdominal X-rays did not show intra-abdominal opacifications/calcification. Consequently, the diagnosis of MI was only possible when exploratory laparotomy was done after signs of intestinal obstruction progressed and rectal biopsy revealed no evidence of Hirchsprung disease. When surgery was performed, there was already evidence of intestinal compromise and part of the bowel had to be resected.
Recent studies indicated that the long-term health outcomes of patients with cystic fibrosis and MI are no worse than those of patients with cystic fibrosis only.14, 15, 16 However, the outcome of infants with trisomy 21 and cystic fibrosis was described as being poor.11, 12, 13 Unfortunately, our patient succumbed to postoperative complications in the form of repeated intra-abdominal abscesses and intractable infection. It is not known whether the additional presence of MI in our patient with trisomy 21 and cystic fibrosis could have further worsened the prognosis. However, the potential for the early diagnosis of MI to improve the clinical course and ultimate outcomes cannot be ignored.
This report highlights the importance of considering the possible coexistence of a diagnosis like MI with DA and of MI with trisomy 21. Although the potential of having these combinations may be rare, it is important to be considered in order to optimize the management and avoid the adverse consequences of delaying or missing the proper diagnosis.
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Dr Olusegun Akinloye wrote the first draft of the manuscript. This project was conducted with no specific financial support. No honorarium, grant or other form of payment was given to anyone to produce this manuscript.
The authors declare no conflict of interest.
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Akinloye, O., Truong, W., Giacomantonio, M. et al. Coexistence of meconium ileus with duodenal atresia and trisomy 21 in a newborn: a case report. J Perinatol 34, 875–876 (2014). https://doi.org/10.1038/jp.2014.124