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Alimentary Tract Duplications KATIE W 39 Alimentary Tract Duplications KATIE W. RUSSELL and GEORGE W. HOLCOMB III Alimentary tract duplications have been described for hun- distention, pain, obstruction, intussusception, bleeding, dreds of years, and multiple terms have been used in the perforation, respiratory compromise, or as a painless mass. literature. The term duplication of the alimentary tract was Generally, symptoms are related to size, location, and the coined by William Ladd in 1937.1 He described three com- presence of heterotopic mucosa. With advances in prenatal mon findings: a well-developed smooth muscle coat, an imaging, many of these masses are being diagnosed in utero epithelial lining, and attachment to the alimentary tract. (Fig. 39.1) and the majority are discovered before 2 years In 1952 Gross et al. reported the first large series describ- of age.4,5,15 A recent study from the Children’s Hospital of ing 67 patients with these findings.2 These duplications are Philadelphia (CHOP) found that 58% of duplications were relatively rare congenital anomalies found anywhere from diagnosed prenatally over a 25-year period.16 The major- the mouth to the anus with an incidence reported to be 1 in ity of duplications are cystic (Fig. 39.2), and the remaining 4500 births.3 Presentation is variable, and resection is usu- are tubular (Fig. 39.3). The ileum and jejunum are the most ally recommended in order to prevent worsening symptoms commonly affected locations, followed by the esophagus.5 or malignant transformation. The epithelial lining is usually native to the surrounding enteric tract, but heterotopic mucosa is found in approxi- mately one-third of duplications.5 Gastric tissue is the most Embryology common type of ectopic mucosa, followed by pancreatic tis- sue, and there are reports of respiratory epithelium being Alimentary tract duplications take many forms, and one found as well (Fig. 39.4).17 Ectopic gastric mucosa can lead unifying embryologic theory is unlikely to encompass all to peptic ulceration with subsequent hemorrhage, anemia, variations. The associated findings of vertebral, spinal cord, or perforation (Fig. 39.5). Pressure necrosis from an adja- and genitourinary (GU) malformations, as well as malrota- cent duplication also can lead to hemorrhage or perfora- tion and intestinal atresia, suggest a multifactorial process tion. Associated anomalies are described in approximately in their development.2,4,5 There are five prevailing theo- 20%, with the most common anomalies being malrotation, ries: partial twinning, split notochord, diverticular defects, intestinal atresia, spinal anomalies, and GU anomalies.18 canalization defects, and environmental factors. The par- tial twinning theory states that organs can be doubled as a result of partial twinning. This theory may be pertinent in hindgut duplications associated with GU tract duplica- tions.6,7 The split notochord theory centers around noto- chord separation in the first month of gestation. This theory postulates that gaps in the notochord develop and allow gut endoderm to herniate and form diverticula. This theory could account for the association of duplications with spi- nal defects.8–10 A persistent embryonic diverticulum from the gastrointestinal (GI) tract was the first theory described in the literature, and a defect in lumen canalization was proposed years later. The theory of defective canalization is based on the finding that GI organs begin as solid tubes and vacuolate to form lumens. During this process, diverticula form but regress during fetal life. If they persist, duplications could form.11,12 Finally, environmental factors including hypoxia, vascular accidents, and trauma have been impli- cated in the development of these anomalies.13,14 Clinical Presentation and Fig. 39.1 This T2–weighted transverse MRI image was obtained from Diagnosis a 22-weeks gestational age fetus. The white arrow identifies a hyper- intense cystic-like structure that is a gastric duplication protruding through the native gastric wall. (From Laje P, Flake AW, Adzick NS. Pre- GI duplications are found incidentally, or they can mani- natal diagnosis and postnatal resection of intraabdominal enteric duplica- fest with a wide range of symptoms, including abdominal tions. J Pediatr Surg 2010;45:1554–1558. Reprinted with permission.) 629 630 Holcomb and Ashcraft’s Pediatric Surgery mass, which requires further workup with either CT or MRI. Contrast studies may show a mass effect or com- munication with the alimentary tract and can help with the diagnosis, particularly in hindgut and foregut lesions. Technetium-99m scintigraphy may be used as adjuvant imaging but is likely unnecessary in most cases.24,25 The presence of a vertebral abnormality and a duplication is best investigated with MRI to evaluate communication with the spinal canal.26 Classification and Treatment by Location To better understand the wide presentation and surgical treatment of duplications, they are best discussed accord- Fig. 39.2 Most alimentary tract duplications are cystic. In this laparo- ing to anatomic location. A compilation of major case series scopic photograph, note the cystic duplication being grasped by the reported in the last 75 years from 23 different institutions Maryland instrument. Its blood supply can be seen just below the tip is seen in Table 39.1.2,4,5,16,18,27–44 The goal of operative of the instrument. As opposed to a Meckel diverticulum, which is found management is to remove the duplication, but the surgi- on the antimesenteric side of the bowel, duplications are located on the mesenteric side. cal procedure should not be more radical than necessary to eliminate the patient’s complaints and prevent recurrence. Simple cyst resection without violating the native GI tract is one option, but because most share a common blood sup- ply to the native alimentary tract, resection with primary anastomosis is often needed and curative, depending on the location. In the recent CHOP 25-year review, bowel resection was required in 34% of the cases.16 Long tubular, thoracoab- dominal, and gastroduodenal duplications may present a more difficult challenge as resection can carry significant morbidity. Partial excision with mucosal stripping may be the best option in these situations. Overall prognosis is favorable, but associated malformations, location, and pre- senting illness can factor into the final outcome. ESOPHAGEAL DUPLICATIONS Approximately 16% of duplications arise from the esopha- * gus (see Table 39.1). Although cervical and abdominal esophageal duplications occur, the majority are located along the thoracic esophagus and in the right chest. Most are cystic and share a muscular wall with the esophagus Fig. 39.3 This operative photograph shows a child with a tubular colonic duplication (solid arrow). The duplications are always on the but do not communicate with the lumen. Clinical presenta- mesenteric side of the native colon. In this photograph, the cecum is tion will depend on whether there is a mass effect. Esopha- marked by the asterisk and the native colon is identified with the dot- geal compression can lead to dysphagia or regurgitation ted arrow. (Photo courtesy Dr. Michael Rollins.) while respiratory symptoms such as cough or pneumonia can result from airway or lung compression. Almost 40% Although duplications are benign, the potential for malig- of esophageal duplications contain ectopic gastric mucosa nant degeneration remains a concern.19–21 (Table 39.2), so peptic ulceration leading to anemia or Multiple imaging modalities are utilized to make the hematemesis can be seen, albeit rare. Esophageal dupli- diagnosis. Prenatal ultrasound (US) can be followed with cations also can have respiratory epithelium or primitive US postnatally, which may be sufficient, especially for dis- lung tissue associated with the lesion (Fig. 39.7). Despite tal small bowel lesions. The typical sonographic appear- the wide range of potential clinical manifestations, esopha- ance of a duplication (the double wall sign) demonstrates geal duplications are most commonly asymptomatic and a cystic rim of hyperechoic serosa and an inner hyper- diagnosed incidentally either prenatally or during workup echoic rim of mucosa and submucosa with a hypoechoic for an unrelated problem such as a respiratory infection or muscular layer sandwiched between the two hyperechoic trauma. Duplications should be included in the differential layers (Fig. 39.6).22 For foregut lesions, more information diagnosis for any patient presenting with a posterior medi- in the form of computed tomography (CT) or magnetic astinal mass. resonance imaging (MRI) may prove valuable in operative Once a duplication is suspected, axial imaging with either planning.23 Plain radiographs may reveal a mediastinal CT or MRI is helpful (Fig. 39.8). When a thoracic duplication 39 • Alimentary Tract Duplications 631 A B Fig. 39.4 These two histologic images were taken from a tubular jejunal duplication. On the left (A) the low-power image shows two lumens that are separated by a singular muscular wall. On the right (B), the medium-power image shows the gastric mucosa from the duplication (left) and the small intestinal mucosa with villi from the native jejunum (right). (Photo courtesy Dr. Walter Pipkin. From Cunningham AJ, Ham PB, King, RG, et al. Congenital jejunal tubular duplication in a patient with a congenital thoracic meningocele. Am Surg 2015;81:E332–E333.) * * Fig. 39.5 This infant presented with abdominal distention and free air. Laparotomy was performed,
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