Coexistence of Meconium Ileus with Duodenal Atresia and Trisomy 21 in a Newborn: a Case Report

PERINATAL/NEONATAL CASE PRESENTATION Coexistence of meconium ileus with duodenal atresia and trisomy 21 in a newborn: a case report

OW Akinloye1, W Truong2, M Giacomantonio2, D Mateos3 and W El-Naggar1

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.

Journal of Perinatology (2014) 34, 875–876; doi:10.1038/jp.2014.124

INTRODUCTION of the contrast beyond the small intestine. A suction rectal biopsy Meconium ileus (MI) is characterized by obstruction of the bowel ruled out Hirchsprung disease. At exploratory laparotomy, the with inspissated meconium which, in most cases, represents the ileum was found to be impacted with copious amount of thick earliest manifestation of underlying cystic fibrosis.1 The diagnosis meconium. There was evidence of ischemic small bowel and of MI is suspected when echogenic bowel and dilated loops are decompressed microcolon. About 25 cm of small bowel was detected in ultrasound screening antenatally and/or when signs resected, and an ileostomy and mucous fistula were created. The of intestinal obstruction and characteristic X-ray findings are diagnosis of MI was confirmed by the finding of deep inspissated observed postnatally. The presence of a family history of cystic mucin, and luminal obstruction with meconium on histological fibrosis is suggestive.2–4 Duodenal atresia (DA) results from failure examination of the resected bowel. Sweat chloride tests on two of recanalization of the solid core of duodenum or from an occasions were insufficient but a molecular genetic analysis interruption of its blood supply early in intrauterine develop- confirmed the diagnosis of cystic fibrosis with the commonest ment.5,6 It accounts for 25 to 40% of all cases of intestinal atresia gene mutation of homozygous delta F508del. Fecal elastase test with an incidence of 1 in 10 000 live births. The double-bubble was consistent with pancreatic insufficiency. The infant later sign in prenatal ultrasound scans and postnatal abdominal X-rays succumbed to multiple intra-abdominal surgical complications characterizes the condition.7,8 As the potential for, and the and intractable infection at 4 months of age. chances of the occurrence of MI with DA are very unlikely, diagnosis may be unexpected or missed and proper management may be delayed. 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, CASE the incidence of DA is 1 in 10 000 live births.7 The theoretical A full-term male infant was born to a 31-year-old gravida 2, para1 coexistence of both conditions is thus estimated to be as rare as 1 Caucasian mother whose first pregnancy resulted in a healthy full- in 125 million live births. From the pathophysiological point of term boy. Her antenatal ultrasound identified the double-bubble view, the occurrence of MI in the presence of DA may not be sign of DA. Subsequent amniocentesis confirmed the diagnosis of expected but is not impossible. Meconium is composed of trisomy 21. She developed severe polyhydraminos requiring mucous, bile and debris that is shed from the intestinal mucosa amnio-reduction at 38 weeks gestation. There was no echogenic in addition to the swallowed amniotic fluid during intrauterine bowel or dilated loops on repeat fetal ultrasounds. Family history life.9 As the presence of DA causes proximal obstruction for the was negative for cystic fibrosis. The baby was born by sponta- flow of amniotic fluid to the rest of the gut early in fetal life, the neous vaginal delivery at gestational age of 39 weeks and birth formation of meconium in the distal part of the bowel is expected weight of 2.93 kg. After birth, an abdominal X-ray confirmed to be reduced but not completely stopped. Our patient had the characteristic double-bubble sign of DA with no evidence of underlying cystic fibrosis, which, together with the low-fluid dilated bowel, ground glass opacification or calcifications bowel-formed meconium and the low gut motility resulting from (Figure 1). On his second day of age, the patient underwent the proximal DA obstruction, could have facilitated the develop- duodeno-duodenostomy. For the days following the repair, he ment of the viscid sticky meconium causing MI. failed to pass meconium and developed progressive abdominal The diagnosis of MI in our patient was delayed for different distension. An upper gastrointestinal contrast study on day 6 of reasons: antenatally, the proximal bowel obstruction by DA life did not reveal any anastomotic leak, but there was no passage prevented the development of more distal dilated loops,

1IWK Health Centre, Department of Pediatrics, Dalhousie University, Halifax, NS, Canada; 2Department of Surgery, Dalhousie University, Halifax, NS, Canada and 3Department of Respirology, Dalhousie University, Halifax, NS, Canada. Correspondence: Dr W El-Naggar, IWK Health Centre, Department of Pediatrics, Dalhousie University, 5850/5980 University Avenue, PO Box 9700, Halifax, NS, Canada B3K 6R8. E-mail: [email protected] Received 28 February 2014; revised 12 May 2014; accepted 14 May 2014 Coexistence of duodenal atresia OW Akinloye et al 876 with trisomy 21. Although the potential of having these com- binations 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.

CONFLICT OF INTEREST The authors declare no conﬂict of interest.

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.

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