Prenatal diagnosis and postnatal resection of intraabdominal enteric duplications

Journal of Pediatric Surgery (2010) 45, 1554–1558

www.elsevier.com/locate/jpedsurg

Review article

Prenatal diagnosis and postnatal resection of intraabdominal enteric duplications Pablo Laje, Alan W. Flake, N. Scott Adzick ⁎ Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA Received 29 January 2010; revised 16 March 2010; accepted 17 March 2010

Key words: Prenatal diagnosis; Enteric duplications; Postnatal resection

Abstract Purpose: The high definition provided by modern imaging techniques allows the delineation of fetal anatomy with unprecedented accuracy. The early prenatal detection of enteric duplications is possible and facilitates a prompt postnatal treatment strategy, thereby, decreasing the risk of potential complications. Materials and Methods: We retrospectively reviewed the medical records of all patients treated at our institution with a prenatally diagnosed intraabdominal enteric duplication between 2001 and 2009. Results: Eighteen patients were included in the series. The diagnosis was made as early as 20 weeks of gestational age and included gastric duplications (3 cases), jejunoileal duplications (11 cases), and duodenal duplications (4 cases). None of the patients had prenatal complications. Two patients had associated intestinal malrotation, whereas the remaining 16 had no other malformations. Postnatally, 14 patients had an uneventful clinical course until the time of surgery, 3 patients had complications within the first 2 weeks of life that required emergency surgery, and 1 patient who had been lost to follow-up presented with duodenal obstruction at 3 years of age. Four patients underwent laparoscopic resection. Conclusion: Because intraabdominal enteric duplications can cause complications, we believe that prenatally diagnosed enteric duplications should be resected after birth. © 2010 Elsevier Inc. All rights reserved.

The prenatal detection of fetal malformations became possible 3 decades ago. The high definition provided by modern imaging techniques allows the delineation of fetal anatomy with unprecedented accuracy. Enteric duplications are rare malformations that can arise at any point of the gastrointestinal tract, and their early prenatal detection is possible. Enteric duplications rarely affect the fetal outcome or require intervention in utero. A series of prenatally diagnosed and postnatally resected intraabdominal enteric ⁎ Corresponding author. Department of Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Tel.: +1 215 590 2727. E-mail address: [email protected] (N.S. Adzick). 0022-3468/$ – see front matter © 2010 Elsevier Inc. All rights reserved. doi:10.1016/j.jpedsurg.2010.03.017

duplications is presented here. All patients who underwent elective surgery had uncomplicated recoveries, with the exception of one patient who developed an ileoileal intussusception on the fifth postoperative day that required surgical reduction.

1. Material and methods We performed a retrospective review of the medical records of 18 patients treated at the Children's Hospital of Philadelphia (Pa) between 2001 and 2009 with a prenatal diagnosis of an intraabdominal enteric duplication cyst. We included in the series patients who were diagnosed and born

Intraabdominal enteric duplications at other institutions and referred to us for postnatal care; patients diagnosed at other institutions and referred to us for further prenatal imaging workup and postnatal care; and patients diagnosed at other institutions and referred to us for prenatal imaging workup, delivery, and postnatal care. All patients ultimately had operations at our institution.

2. Results A total of 18 patients were included in the series: 8 females and 10 males (Table 1). The initial prenatal diagnosis was established as early as 20 weeks of gestational age (GA), and the range was 20 to 25 weeks of GA. Ultrasound was the initial screening study in all cases. Six of the more recent patients also had a prenatal magnetic resonance imaging (MRI) study performed between the 20th and 31st week of GA. None of the patients had prenatal complications because of the presence of the enteric duplication. Only one patient was born before term (36 weeks of GA), the rest were all fullterm babies. Two patients had intestinal malrotation found incidentally at the time of operation; the remaining patients had no associated malformations. The anatomical location of the duplications was gastric in 3 cases, jejunoileal in 11 cases, and duodenal in 4 cases. Age at surgery ranged from 1 day to 37 months of life. In postnatal outcomes, 14 patients had an uneventful clinical course until the time of surgery, whereas 4 patients had complications. The first of these 4 patients presented with bilious emesis and a high-grade small bowel obstruction at 2 weeks of age. An ileal duplication 5 cm proximal to the ileocecal valve was found and resected with the adjacent ileal segment. The second patient was transferred Table 1

1555 on the first day of life with nonbilious emesis and abdominal distension. He underwent exploratory laparotomy, and an ileal volvulus was found. An ileal duplication had acted as a focal point, most likely during fetal life because the proximal and distal ends of the volvulized segment were near-atretic and the segment was not viable. The duplication was resected along with 25 cm of ileum. A terminal ileostomy was performed and then closed a month later. The third patient presented with bilious emesis on the first day of life, and plain abdominal film showed a proximal small bowel obstruction. At laparotomy, intestinal malrotation and a jejunal duplication were found. The duplication was resected with the adjacent 2 cm of jejunum, and a Ladd's procedure was performed. The fourth patient, who had been lost to followup, presented with duodenal obstruction at 3 years of age. A computed tomographic (CT) scan showed a 7 × 7 × 6-cm right upper quadrant cyst obstructing the duodenum (Fig. 1). At laparotomy, a large duodenal duplication was identified, 150 mL of brownish fluid were aspirated, and a complete resection was performed without resecting the adjacent native duodenum. All the patients who underwent elective surgery had uncomplicated recoveries, with the exception of one patient with an ileal duplication who developed an ileoileal intussusception on the fifth postoperative day that required surgical reduction. Four patients were operated on laparoscopically: 3 with ileal duplications and 1 with a gastric duplication, and none of them were converted to open procedures. Their ages ranged from 1 to 17 months. In all laparoscopic cases, the duplications were resected without the adjacent intestinal segment. For the 3 ileal duplications that were resected laparoscopically, the resultant seromuscular

Eighteen-patient series of prenatally diagnosed and postnatally treated intraabdominal enteric duplications

Case

Age at surgery

Postnatal course

Surgery

Location

1 2a 3 4 5b 6 7 8 9 10 11 12 13 a 14 15 16 17 18

2 wk 4d 2 mo 10 mo 2 mo 1 mo 1 mo 2 wk 17 mo 6 mo 1d 7 mo 1d 1 mo 1 mo 2 mo 37 mo 3 mo

Bilious emesis at 2 wk Unremarkable Unremarkable Unremarkable Unremarkable Unremarkable Unremarkable Unremarkable Unremarkable Unremarkable Emesis, abdominal distension Unremarkable Bilious emesis at birth Unremarkable Unremarkable Unremarkable Abdominal pain and emesis Unremarkable

Open resection with adjacent segment Open resection with marsupialization, Ladd's Open resection with ileocecectomy Open resection with ileocecectomy Open resection without adjacent ileum Laparoscopic resection without adjacent ileum Laparoscopic resection without adjacent ileum Open approach, fenestration of common wall Laparoscopic resection without adjacent stomach Laparoscopic resection without adjacent ileum Open approach, bowel resection and ostomy Open resection with adjacent segment Open resection with adjacent segment; Ladd's Open resection without adjacent segment Open resection without adjacent segment Open resection without adjacent stomach Open resection without adjacent segment Open resection without adjacent stomach

Ileal Duodenal Ileal Ileal Ileal Ileal Ileal Duodenal Gastric Ileal Ileal Ileal Jejunal Duodenal Ileal Gastric Duodenal Gastric

The age at diagnosis by antenatal ultrasound ranged between 20 and 25 weeks of gestation. a Two patients had an incidental intraoperative finding of intestinal malrotation. b One patient developed a postoperative ileoileal intussusception that required surgical reduction.

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Fig. 1 Case no. 17 (duodenal duplication): 3-year-old female, CT scan. Large hypodense cystic structure in the right upper quadrant (asterisk). There is an abrupt cutoff of the stomach at its medial aspect as it abuts the cystic lesion. The stomach is markedly distended.

defect in the native ileum was closed in 1 case and left open in the 2 other cases. Twelve of the 18 duplications had gastrictype mucosa (6 ileal, 3 gastric, and 3 duodenal duplications), the other 1 duodenal, and 5 jejunoileal duplications contained small intestinal mucosa.

3. Discussion Enteric duplications are believed to occur between the fourth and eighth weeks of embryonal development. Several theories have been proposed to explain their pathophysiology, including errors in the recanalization of the primitive intestine, failure of the regression of embryonic diverticula, and errors of the splitting of the notochord. The latter is the most widely accepted hypothesis for those duplications associated with vertebral anomalies [1-3]. The characterization of enteric duplications is not simple given that there is a large range of anatomical variability. They can arise at any level of the gastrointestinal tract, from the mouth to the rectum, and can be cystic or less frequently tubular. Duplications can be single or multiple, they can rarely communicate with the lumen of the adjacent intestinal segment, or much more commonly, they are noncommunicating. Interestingly, the anatomical location does not always correlate with the type of epithelial lining. Intraabdominal duplications account for 78% of all duplications, and within those, 65% are jejunoileal, 20.5% are colonic, 8% are gastric, and 6.5% duodenal [4]. Although the actual incidence of these malformations is not known, a rough estimation of 1 case per 4500 neonatal autopsies was reported by Potter [5] in 1961. The differential diagnosis to be considered in a fetus

P. Laje et al.

Fig. 2 Case no. 18 (gastric duplication): 22-week GA ultrasound. Sagittal view of a retrogastric enteric duplication. Note the inner hyperechoic and the outer hypoechoic layers (“double-wall” sign, white arrows).

with an intraabdominal cyst includes neuroenteric cyst, anterior myelomeningocele, mesenteric cyst, choledochal cyst, and ovarian cyst. The first prenatal detection of an enteric duplication was reported by van Dam [6] in 1984 at 20 weeks of GA by ultrasound. Since then, large ultrasound surveys have shown that there are 2 sonographic signs highly suggestive of enteric duplication: the “double-wall” sign and the presence of peristalsis [7,8]. The “double-wall” sign consists of an inner hyperechoic rim correlating to the mucosa-submucosa and an outer surrounding hypoechoic layer reflecting muscularis propria. This feature was found in some of our

Fig. 3 Case no. 18 (gastric duplication): 22-week GA MRI. Note the hyperintense cystic-like structure protruding the posterior gastric wall in a T2-weighted transverse view (white arrow).

Intraabdominal enteric duplications cases (Fig. 2). Current ultrasound technology allows detecting enteric duplications with a low false-positive rate as early as 12 weeks of gestation [9]. The rule that once a malformation is found then a search for other malformations is needed also applies to enteric duplications: approximately one third of patients with enteric duplications have associated malformations, such as spinal defects, pulmonary sequestration, congenital cystic adenomatoid malformation, and cardiac malformations [10-12]. In our opinion, when an enteric duplication (or any other malformation) is found in a fetus on a surveillance ultrasound, a prenatal MRI and echocardiogram are indicated. As fetal MRI technology has advanced, MRI is more accurate than ultrasound in delineating many aspects of fetal anatomy [13]. On fetal MRI, enteric duplications appear hyperintense on T2-weighted images and hypointense on T1-weighted images (Fig. 3). It could be argued that none of our patients had associated malformations, making the fetal MRI in retrospect, unnecessary. However, the purpose of the fetal MRI is also to help rule out associated malformations, and in the 6 patients who had a prenatal MRI, the false-negative rate was zero. In prenatal care, intraabdominal enteric duplications need serial ultrasound surveillance to assure that the size remains stable or grows in proportion with the overall fetal growth. A monthly assessment is initially appropriate, and the interval can be shortened or lengthened according to the findings. None of our patients required fetal intervention, and as far as we know, the need for it has been reported only twice for an intraabdominal duplication. In the first report, a very large ileal duplication (9 × 4.4 × 6 cm) caused a huge mass effect elevating the diaphragm (which raised concerns for pulmonary hypoplasia) and interfering with the normal fetal circulation by compressing the intraabdominal portion of the umbilical vein resulting in global fetal hypoxia. The cyst was percutaneously drained twice [14]. In the second report, a very large (8.6 × 7.6 × 7.1 cm) colonic duplication initially thought to be of ovarian origin was percutaneously drained twice to minimize the risk of ovarian torsion and avoid the risk of intestinal compression [15]. The need for prenatal therapy has been also reported once for an intrathoracic enteric duplication (2 cases that presented mediastinal shift and hydrops treated by placing shunts between the duplication and the amniotic cavity) [16]. Fetuses with prenatally diagnosed uncomplicated enteric duplications and no other malformations do not need to be delivered at a tertiary referral center. The natural history of intraabdominal enteric duplications is quite variable, ranging from causing complications that require surgery in the first day of life to being indefinitely asymptomatic. The potential complications of an intraabdominal enteric duplication are many and can be fatal. Pain is one of the most frequent forms of presentation and is usually attributed to high pressure inside the duplication because of the accumulation of secretions. Intussusception is another complication in which the duplication serves as a lead point. Intestinal obstruction because of the extrinsic

1557 compression of the adjacent bowel has been reported as well. However, perhaps the most dangerous complications that can happen are those associated with the presence of gastric mucosa, such as ulceration, perforation, and hemorrhage. Finally, malignant changes can occur in the mucosa of an enteric duplication, regardless of the mucosal type and the anatomical location [17,18]. For all of these reasons, we believe that once an enteric duplication has been diagnosed, it should be resected. With the widespread availability of prenatal diagnosis, more and more enteric duplications are diagnosed before birth but that does not necessarily mean that they must be resected within the first days of life. There is no right answer as of when is the exact time to perform the resection in asymptomatic patients, but our practice has been to operate within the first 6 months of life. Three patients in our series underwent operations later than that: one at 17 months of age because of a late referral, one at 37 months of age because of lost follow-up, and the last one (the fourth in the series, seven years ago) at 10 months of age because the cyst was initially thought to be of ovarian origin. During the analyzed period, we treated 12 patients with intraabdominal enteric duplications that were not prenatally diagnosed. Ten (83%) of them presented with complications that required a prompt surgical treatment (abdominal pain in 4 cases, intestinal obstruction in 4 cases, and bright red blood per rectum in 2 cases; 8 of these patients presented to the emergency department). Only 2 patients were asymptomatic at the time of referral and underwent elective resection: one case of a duodenal duplication was incidentally found on a CT scan performed after a trauma event, and the second case was referred to us postnatally from another institution with a prenatal finding of an ovarian cyst (on studies at our institution the cyst was thought to be an ileal enteric duplication that was resected at 2 months of age). The age at presentation in the patients who had complications ranged from 7 days to 15 years (median, 4 months). This series reinforces the idea that prenatal diagnosis is beneficial and that these lesions must be resected after being diagnosed because most of them will eventually develop complications. With regard to the type of surgical approach (laparoscopic vs open), there is no published data demonstrating the benefits of one over the other except for the widely accepted general advantages of laparoscopy in postoperative comfort and cosmesis; thus, it remains subject to the surgeon's preference.

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