Case of the Week # 589
(1) Professor of Obstetrics & Gynecology, Haifa, Israel; (2) St Mary's Medical Center, San Francisco, CA, USA
A patient presents at 14 weeks gestation with the following findings.
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Answer
We present a case of duodenal atresia involving the fourth portion of the duodenum.
Ultrasound examination at 14 weeks and confirmed at 19 weeks demonstrated a transverse image of fetal abdomen with stomach on the left side (bigger bubble of so called “double bubble sign”) connected via thinner part of duodenum to slightly dilated distal part of duodenum (second bubble of so called “double bubble sign”). Not shown is an aberrant right subclavian artery and absent ductus venosus. Chromosome analysis, including microarray and exome sequencing, were normal. The fetus developed mild polyhydramnios at 27 weeks gestation, which progressed to severe polyhydramnios by 34 weeks.
Surgical exploration at birth revealed duodenal atresia involving the 4th portion of the duodenum. There was no intestinal malrotation identified at surgery.
Discussion
Duodenal atresia has an incidence of 1 per 5000–10,000 live births. Intrinsic duodenal atresia and stenosis most commonly occur in the first and second portions of the duodenum [1]. Those found in the third and fourth portion of the duodenum can be associated with malrotation and midgut volvulus. Ladd’s bands, caused by incomplete absorption of cecal and ascending colon mesenteries, can cause external compression of the duodenum and be associated with malrotation [1]. Duodenal obstruction can be classified as complete and incomplete. Complete duodenal obstruction usually results from bowel atresia or annular pancreas, whereas incomplete atresia can be caused by an intraluminal web [2].
Prenatal detection rates of duodenal obstruction vary between 33-48% [2,3]. In patients with complete obstruction, the rate of diagnosis before birth may be up to 73% [2]. In a study reviewing 33 cases of duodenal obstruction, no infants with incomplete obstructions were diagnosed prenatally [2]. Prenatal diagnosis of duodenal obstruction occurs at a median age of 25 weeks [2], with rare reports of early diagnosis at 14-15 weeks [4, 5].
Findings on ultrasound include a double bubble from dilation of the stomach and proximal duodenum. The differential diagnosis for a double bubble includes normal peristalsis [5], choledochal cyst [6], or duodenal duplication [7]. Establishing intestinal continuity can differentiate between duodenal atresia and choledochal cyst or duodenal duplication [3]. Additionally, fetuses with duodenal atresia can present with polyhydramnios, though the rate was only 33% in patients with complete obstruction and patients with incomplete obstruction had normal amounts of amniotic fluid [2]. Fetuses with more than two bubbles have been reported and can be found to have a combination of pathologies including malrotation and annular pancreas [8]. Evaluation by MRI [8] or 3D ultrasound [9] can further delineate the anatomy.
Duodenal atresia is often associated with other anomalies. In a study reviewing 61 cases of duodenal atresia, only 43% were isolated [3]. Associated anomalies included Down’s syndrome (46%), cardiac anomalies (31%), malrotation (10%), bowel atresia (7%), and VACTERL association (vertebral, anorectal, tracheoesophageal, renal, limb) (5%) [3]. In a review of the literature by Kimble et al, 29% of infants with duodenal atresia had malrotation. The authors hypothesize that some cases of duodenal atresia and stenosis may occur due to compression of the embryonic duodenum by crossing bands from a malrotated colon [10].
Our case is unique in that the diagnosis was made early in gestation at 14 weeks, and that the location of the stenosis occurred in the 4th portion of the duodenum without associated malrotation.
References
[1] Russo P, Huff D. “CHAPTER 8 - Congenital and Developmental Disorders of the GI Tract.” Surgical Pathology of the GI Tract, Liver, Biliary Tract, and Pancreas (Second Edition). W.B. Saunders, 2009. pg 145-168.
[2] Saalabian K, Friedmacher F, Theilen TM, et al. Prenatal Detection of Congenital Duodenal Obstruction-Impact on Postnatal Care. Children (Basel). 2022 Jan 26;9(2):160.
[3] Choudhry MS, Rahman N, Boyd P, et al. Duodenal atresia: associated anomalies, prenatal diagnosis and outcome. Pediatr Surg Int. 2009 Aug;25(8):727-30.
[4] Petrikovsky BM. First-trimester diagnosis of duodenal atresia. Am J Obstet Gynecol. 1994 Aug;171(2):569-70.
[5] Zimmer EZ, Bronshtein M. Early diagnosis of duodenal atresia and possible sonographic pitfalls. Prenat Diagn. 1996 Jun;16(6):564-6.
[6] Dewbury KC, Aluwihare AP, Birch SJ, et al. Prenatal ultrasound demonstration of a choledochal cyst. Br J Radiol. 1980 Sep;53(633):906-7.
[7] Malone FD, Crombleholme TM, Nores JA, et al. Pitfalls of the 'double bubble' sign: a case of congenital duodenal duplication. Fetal Diagn Ther. 1997 Sep-Oct;12(5):298-300.
[8] Hung JH, Shen SH, Chin TW, et al. Prenatal diagnosis of double duodenal atresia by ultrasound and magnetic resonance image. Prenat Diagn. 2007 Apr;27(4):381-3.
[9] López Ramón Y Cajal C, Ocampo Martínez R. Prenatal diagnosis of duodenal atresia with three-dimensional sonography. Ultrasound Obstet Gynecol. 2003 Dec;22(6):656-7.
[10] Kimble RM, Harding J, Kolbe A. Is malrotation significant in the pathogenesis of duodenal atresia? Pediatr Surg Int. 1995 Jul;10:325-28.
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