Perinatal/Neonatal Case Presentation

Coexistence of meconium ileus with duodenal atresia and trisomy 21 in a newborn: a case report

Abstract

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.

Introduction

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.

Case

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.

Figure 1
figure1

The preoperative abdominal X-ray of the patient showing the double-bubble sign of duodenal atresia.

Discussion

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.

References

  1. 1

    Park RW, Grand RJ . Gastrointestinal manifestation of cystic fibrosis: a review. Gastroenterology 1961; 81: 1143–1161.

    Google Scholar 

  2. 2

    Scotet V, Dugueperoux I, Audrezet MP, Audebert-Bellanger S, Muller M, Blayau M et al. Focus on cystic fibrosis and other disorders evidenced in fetuses with sonographic finding of echogenic bowel: 16-year report from Brittany, France. Am J Obstet Gynecol 2010; 203: 592.e1–6.

    Article  Google Scholar 

  3. 3

    Bahado-Singh R, Morotti R, Copel JA, Mahoney MJ . Hyperechoic fetal bowel: the perinatal consequences. Prenat Diagn 1994; 14: 981–987.

    CAS  Article  Google Scholar 

  4. 4

    Carlyle BE, Borowitz DS, Glick PL . A review of pathophysiology and management of fetuses and neonates with meconium ileus for the pediatric surgeon. J Pediatr Surg 2012; 47 (4): 772–781.

    Article  Google Scholar 

  5. 5

    O’Rahilly R, Muller F . Human Embryology and Teratology. Wiley-Liss: New York, 1996 p 229.

    Google Scholar 

  6. 6

    Louw JH, Barnard CN . Congenital intestinal atresia; observations on its origin. Lancet 1955; 269 (6899): 1065–1067.

    CAS  Article  Google Scholar 

  7. 7

    Fonkalsrud EW, de Lorimer AA, Hays DM . Congenital atresia and stenosis of the duodenum: a review compiled from the members of the surgical section. Am Acad Pediatr 1969; 43: 79–83.

    CAS  Google Scholar 

  8. 8

    Choudhry MS, Rahman N, Boyd P, Lakhoo K . Duodenal atresia: associated anomalies, prenatal diagnosis and outcome. Pediatr Surg Int 2009; 25 (8): 727–730.

    CAS  Article  Google Scholar 

  9. 9

    Rapoport S, Buchanan DJ . The composition of meconium; isolation of blood-group-specific polysaccharides; abnormal compositions of meconium in meconium ileus. Science 1950; 112 (2901): 150–153.

    CAS  Article  Google Scholar 

  10. 10

    Guy EL, Peckham DG, Brownlee KG, Conway SP, Lee TW . Cystic fibrosis co-existing with trisomy 21. J Cyst Fibros. 2010; 9 (5): 330–331.

    CAS  Article  Google Scholar 

  11. 11

    Milunsky A . Cystic fibrosis and Down's syndrome. Pediatrics 1968; 42: 501–504.

    CAS  PubMed  Google Scholar 

  12. 12

    Vetrella M, BartheImai W, Matsuda H . Down's syndrome and cystic fibrosis. Pediatrics 1969; 43: 905–906.

    CAS  PubMed  Google Scholar 

  13. 13

    Kruger C, Barmeier H, Sailer R, Harms D . Cystic fibrosis in Down's syndrome-diagnostic pitfalls and implications for the clinician. Arch Dis Child 1998; 78: 194.

    CAS  Article  Google Scholar 

  14. 14

    Munck A, Gerardin M, Alberti C, Ajzenman C, Lebourgeois M, Aigrain Y et al. Clinical outcome of cystic fibrosis presenting with or without meconium ileus: a matched cohort study. J Pediatr Surg 2006; 41: 1556–1560.

    Article  Google Scholar 

  15. 15

    Efrati O, Nir J, Fraser D, Cohen-Cymberknoh M, Shoseyov D, Vilozni D et al. Meconium ileus in patients with cystic fibrosis is not a risk factor for clinical deterioration and survival: the Israeli Multicenter Study. J Pediatr Gastroenterol Nutr 2010; 50: 173–178.

    Article  Google Scholar 

  16. 16

    Johnson JA, Bush A, Buchdahl R . Does presenting with meconium ileus affect the prognosis of children with cystic fibrosis? Pediatr Pulmonol 2010; 45: 951–958.

    Article  Google Scholar 

Download references

Acknowledgements

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.

Author information

Affiliations

Authors

Corresponding author

Correspondence to W El-Naggar.

Ethics declarations

Competing interests

The authors declare no conflict of interest.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

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

Download citation

Search

Quick links