eMedicine Specialties > Pediatrics: Surgery > General Surgery

Gastrointestinal Duplications

Author: Amulya K Saxena, MD, PhD, Associate Professor, Department of Pediatric and Adolescent Surgery, Medical University of Graz, Austria
Contributor Information and Disclosures

Updated: Mar 15, 2010

Introduction

Gastrointestinal duplications are rare congenital malformations that may vary greatly in presentation, size, location, and symptoms.¹

Problem

In 1733, Calder published the first report of an intestinal duplication. In 1937, Ladd introduced the term duplication of the alimentary tract. This condition consists of a group of congenital anomalies with the following 3 characteristics:

• A well-developed coat of smooth muscle is present.
• The epithelial lining represents some portion of the alimentary tract.
• Duplications are frequently intimately attached to some portion of the gastrointestinal tract.

Frequency

Gastrointestinal duplications are observed in 1 of every 4500 autopsies, predominantly in white males. The small intestine is the most frequent site involved, whereas gastric, duodenal, rectal, and thoracoabdominal involvement is relatively rare. Synchronous gastrointestinal duplications occur in as many as 15% of patients.

• Cervical duplications: Cervical esophageal duplication cysts are the most unusual gastrointestinal duplication, with fewer than 10 cases reported.
• Thoracic and thoracoabdominal duplications: These make up 4% of all gastrointestinal duplications.
• Gastric duplications: These duplications account for 7% of all gastrointestinal duplications.
• Pyloric duplications: These are extremely rare. However, they are reported in the literature.²
• Duodenal duplications: These account for 5% of all gastrointestinal duplications.
• Small-intestine duplications: The small intestine is the most frequent site of gastrointestinal duplications, accounting for 44% of cases.³
• Colonic duplications: They may be cystic or tubular; colonic duplications represent 15% percent of duplications.
• Rectal duplications: These represent up to 5% of gastrointestinal duplications.⁴

Etiology

The true etiology of gastrointestinal tract duplications is not known.⁵ Several theories have been postulated.

The idea that the initial developmental abnormality occurs in the gastrulation stage and results in a split notochord has been proposed. During early embryogenesis, the notochord is open, and the endoderm of the yolk sac and the ectoderm of the notochord are fused; a tube called the neuroenteric canal connects the yolk sac and the amnion. As part of the development of the split notochord, an endodermal-ectodermal adhesion between the cord has been proposed to result in the persistence of an endomesenchymal tract between the yolk sac and the amnion. The endomesenchymal tract formed is responsible for the anomalies of the entire gastrointestinal system. However, not all duplications are compatible with this theory, and other etiologies have been proposed.

Some duplications of the foregut and hindgut may result from "partial twinning." These duplications may be associated with other paired structures, such as those found in the genital and urinary tract. Other duplications, especially those of the ileum, may occur as a result of persistent embryological diverticula. Some portions of the intestinal tract have a solid stage during development; therefore, duplications of these structures may result from "aberrant luminal recanalization." Finally, intrauterine environmental factors, such as trauma or hypoxia during a vascular accident, may cause duplications at any level of the gastrointestinal tract.

Presentation

Presentation depends on the size and location of the duplication.⁶

• Cervical duplications: Patients with cervical duplications present with respiratory distress that may be life-threatening and requires rapid diagnosis and treatment.
• Thoracic and thoracoabdominal duplications: Respiratory distress caused by airway compression may be noted in younger children; however, in older patients, heartburn or melena has been reported, which is probably caused by the presence of gastric mucosa in one third of patients with thoracic and thoracoabdominal duplications.
• Gastric duplications: Patients usually present when younger than 1 year with vomiting, poor feeding, failure to gain weight, and a palpable mass upon physical examination. Hypertrophic pyloric stenosis is often a misdiagnosis in such infants. The mucosal lining of the cysts is often gastric and can lead to melena or hematemesis.⁷
• Duodenal duplications: Fifteen percent of these duplications contain ectopic gastric mucosa, which predisposes the patient to ulceration. Peptic ulceration may lead to painless gastrointestinal hemorrhage that can progress to perforation. Duplications may extend into the liver or even transdiaphragmatically. These are generally diagnosed after onset of high intestinal obstruction or hemorrhage that may commonly be accompanied by icterus or pancreatitis.
• Small-intestine duplications: Clinical presentation depends on the type, size, location, and mucosal lining of the duplication.⁸ Small cystic duplications can be anchor points for intussusception or can result in volvulus, whereas long tubular duplications with proximal communication drain poorly, and retention of intestinal contents can obstruct adjacent intestine. Distal communication is more common and is more difficult to diagnose than proximal communication. Gastric mucosa in a duplication can lead to ulceration and perforation. The diagnosis is often not established before surgery.
• Colonic duplications
  • Cystic colonic duplications are either asymptomatic or present as abdominal masses that may be accompanied by pain. Bleeding may be observed despite the lower prevalence of ectopic gastric mucosa in colon duplications. Newborns may present with volvulus or acute intestinal obstruction.
  • Tubular colonic duplications are usually asymptomatic, but severe esthetic problems are observed with the duplicated genitalia.
• Rectal duplications: Presenting signs of colonic or presacral duplications may include constipation, rectal bleeding, hematochezia, rectal prolapse, hemorrhoids, fistula-in-ano, and perirectal abscess.⁴

Indications

Gastrointestinal duplications are most frequently single, tubular, or cystic and are most often located on the mesenteric side of the native alimentary tract structure. Symptoms are often related to the location of the duplication; oral and esophageal lesions can create respiratory difficulties, whereas lower gastrointestinal lesions may cause nausea, vomiting,³ bleeding, perforation, or obstruction.⁹

Patients with cervical esophageal duplications or thoracic/thoracoabdominal duplications may present with respiratory distress that is caused by compression of the airway; this can be life-threatening.

The presence of heterotopic mucosa (eg, gastric mucosa) in a duplication can lead to peptic ulcerations, bleeding, and perforation with peritonitis.

Neoplastic changes have been reported in gastrointestinal duplications.

Relevant Anatomy

• Cervical duplications: These are generally duplications of the esophagus.
• Thoracic and thoracoabdominal duplications: As many as one third of these lesions have a second or third duplication cyst below the diaphragm; therefore, the CT scan should include the abdomen. Almost all patients with thoracic/thoracoabdominal duplications have vertebral anomalies, and the CNS may be involved. The histological similarity and anatomic proximity of bronchogenic cysts and intramural esophageal duplications supports their common origin.¹⁰
• Gastric duplications: Gastric duplications are generally cystic. They are generally located on the greater curvature and have no communication to the stomach.
• Duodenal duplications: These duplications generally do not communicate with the intestinal lumen. Duodenal duplications can arise from the bile ducts or the pancreas.
• Small-intestine duplications: Most small-intestine duplications are located in the ileum. Duplications may be cystic or tubular and are located on the mesenteric border, often sharing a common muscular wall and blood supply with the native intestine. Multiple small-intestine duplications may be present.³
• Colonic duplications: Colonic cysts may be isolated or have an external fistula to the skin, urinary tract, or normal colon. Tubular colonic duplications can also occur with duplication or triplication of the colon. Tubular duplication of the colon is often associated with duplication of the anus, vagina, and penis. Multiple short-segment duplications of the colon may also be present.¹¹
• Rectal duplications: Rectal duplications occur in the retrorectal space.
• Associated anomalies common with duplications: Screening for these associated anomalies should be performed in appropriate patients.
  • Thoracoabdominal duplications - Vertebral anomalies (approximately 75%)
  • Enteric cystic duplications - Intestinal atresias
  • Tubular hindgut duplications - Genitourinary malformations

Contraindications

• Duodenal duplications: Surgical resection is the preferred method of treatment for most gastrointestinal duplications; however, for duodenal duplications, surgical resection is inadvisable because of the close proximity of such cysts to the biliary and pancreatic ductal system.
• Colonic duplications: Patients presenting with complex tubular colonic duplications may not require a surgical approach if internal communication of the duplication is adequate and the colon is normal.

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