AUTHOR AND EDITOR INFORMATION

Section 1 of 11  

• Authors and Editors
• Introduction
• Indications
• Relevant Anatomy
• Contraindications
• Workup
• Treatment
• Complications
• Outcome And Prognosis
• Future And Controversies
• References

INTRODUCTION

Section 2 of 11  

• Authors and Editors
• Introduction
• Indications
• Relevant Anatomy
• Contraindications
• Workup
• Treatment
• Complications
• Outcome And Prognosis
• Future And Controversies
• References

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

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.¹
• 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.
• 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.

Etiology

The true etiology of gastrointestinal tract duplications is not known. 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 occur as a result of "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.

Clinical

Presentation depends on the size and location of the duplication.

• 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.
• 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. 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.²

INDICATIONS

Section 3 of 11  

• Authors and Editors
• Introduction
• Indications
• Relevant Anatomy
• Contraindications
• Workup
• Treatment
• Complications
• Outcome And Prognosis
• Future And Controversies
• References

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.

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

Section 4 of 11  

• Authors and Editors
• Introduction
• Indications
• Relevant Anatomy
• Contraindications
• Workup
• Treatment
• Complications
• Outcome And Prognosis
• Future And Controversies
• References

• 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.
• 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.
• 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.
• 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

Section 5 of 11  

• Authors and Editors
• Introduction
• Indications
• Relevant Anatomy
• Contraindications
• Workup
• Treatment
• Complications
• Outcome And Prognosis
• Future And Controversies
• References

• 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.

WORKUP

Section 6 of 11  

• Authors and Editors
• Introduction
• Indications
• Relevant Anatomy
• Contraindications
• Workup
• Treatment
• Complications
• Outcome And Prognosis
• Future And Controversies
• References

Imaging Studies

• Thoracic duplications are often apparent on routine chest radiography. They have a characteristic enhancing ring that can be revealed by CT scanning.
• Contrast studies are helpful in demonstrating the mass effect and displacement of normal alignment.
• In cases of gastrointestinal bleeding, heterotopic gastric lining can be detected using technetium scans.
• Ultrasonography has been successfully used in diagnosing duplications.^{4, 5, 6} In cases of colonic or presacral duplications, ultrasonography has the added benefit of revealing associated genitourinary anomalies.

Diagnostic Procedures

• In most children with intestinal duplications, the diagnosis is not made before surgery.

TREATMENT

Section 7 of 11  

• Authors and Editors
• Introduction
• Indications
• Relevant Anatomy
• Contraindications
• Workup
• Treatment
• Complications
• Outcome And Prognosis
• Future And Controversies
• References

Medical therapy

Before the treatment begins, gastrointestinal duplications must be evaluated based on their localization in terms of common blood supply and the search for heterotrophic gastric mucosa. In cervical esophageal duplications, the trachea must also be evaluated. Similarly, endoscopic evaluation of the genitourinary tract is recommended in selected hindgut duplications.

The preferred treatment of gastrointestinal duplications is excision;⁷ however, in colonic duplications, which feature communication proximally and distally between the duplication and the normal colon, administration of stool softeners and enemas can improve symptoms.

Surgical therapy

In general, excision is the preferred treatment of alimentary tract duplications. Because of the mesenteric location of most duplications, they share a common blood supply with the normal organ. If feasible, segmental resection may be performed. Otherwise, one may excise or "shell out" the cyst if an adequate plane is present. Mucosal stripping has also been described. If excision is not possible, for example, due to proximity to the biliary or pancreatic ducts, a drainage procedure may be performed. However, if this is planned, one must determine whether gastric mucosa is present (with technetium scan), and, if so, it must be excised to prevent future ulceration. In colon and rectal duplications below the peritoneal reflection, endoscopy of the urogenital tract should be performed preoperatively to rule out associated anomalies.

• Cervical esophageal duplications: Surgical treatment involves the excision of the cyst. Total mucosectomy is also curative.
• Thoracic and thoracoabdominal duplications: Treatment involves excision of the cyst. Combined thoracoabdominal cysts make up fewer than 2% of all duplications. If staged excision is planned, the duplication remaining after the primary excision should have a communication with the gastrointestinal tract or be drained externally to prevent compression if it expands because of hemorrhagic secretions.
• Gastric duplications: In most cases, resection can be accomplished without entering the stomach by resecting the shared wall between the stomach and the duplication. Gastric resection is generally not required.
• Duodenal duplications: Surgical resection is the treatment of choice; however, drainage of the duplication cysts into the duodenum or into a Roux limb of the jejunum is an acceptable alternative if a risk of injury to the biliary or pancreatic ductal system is observed. Preoperative endoscopic retrograde cholangiopancreatography (ERCP), percutaneous transhepatic cholangiography (PTC), or magnetic resonance cholangiography/pancreatography (MRCP) should be performed to evaluate the involvement of the biliary and pancreatic ducts. These studies may also distinguish between duodenal duplication and a choledochal cyst if the diagnosis is unclear. A cholangiogram may also be performed intraoperatively to characterize the ductal anatomy in relation to the cyst. Excision should be performed if gastric mucosa is present to avoid later ulceration. Marsupialization and external drainage have no value.
• Small-intestine duplications: Segmental resection along with the adjacent intestine is the preferred treatment for small cystic or short tubular duplications. Cystic duplications (in the absence of gastric mucosa) that cannot be resected may be drained into a Roux limb. Long tubular duplications that cannot be resected because of their length can be managed by intestinal lengthening procedures, mucosal stripping through multiple incisions (when separation is not possible), or diversion into the stomach.
• Colonic duplications
• • Cystic duplications: In cases of smaller cysts, a complete excision of the duplication and its attached normal colon is preferred. However, because long colonic duplications generally have an opening to the normal colon, enlarging these internal communications by excising a small part of the common wall to permit reentry from the duplication into the normal colon is sufficient.
  • Tubular duplications: If the duplication is fused with a normal rectum and perineal anus, the duplication can be connected transanally by excising part of the common rectal wall. Smaller duplications may also be treated by excising the fistula wall, making it part of the common rectum. Tubular duplications may also be treated by excising the lesion with the normal colon, by enlarging existing communications with the normal bowel, or by excising the common wall. Tubular duplications often extend below the peritoneal reflection, and they are associated with abnormalities of the genitourinary tract. Preoperative cystoscopy and vaginoscopy/hysteroscopy should be performed to identify duplication, fistula, or other abnormalities of the bladder, urethra, or genital tract.
• Rectal duplications: The general approach involves the transanal exposure of the cyst, incision of the posterior rectal mucosa, draining the cyst, and stripping the cyst wall mucosa. Total excision may also be performed via the transanal, posterior sagittal, or transcoccygeal (Kraske) approach.

Follow-up

• Surgical excision of gastrointestinal lesions is generally curative; however, follow-up is important after the treatment of certain types of duplications.
• Pancreatitis may occur after surgical management of gastric or duodenal duplications because of the proximity of the duplications to the pancreaticobiliary tree.
• Recurrent bleeding may occur after mucosal stripping of the duplication in cases in which complete excision is not possible.
• Patients undergoing medical therapy with stool softeners and who have had cystic colonic duplications require regular clinical evaluation.
• Severe duplications of external genitalia associated with tubular colonic duplications pose a cosmetic problem, and counseling is required.
• Continence studies (eg, rectal manometry) are advisable for patients who have been treated for rectal duplications.
• For excellent patient education resources, visit eMedicine's Procedures Center. Also, see eMedicine's patient education article Gastrointestinal Endoscopy.

COMPLICATIONS

Section 8 of 11  

• Authors and Editors
• Introduction
• Indications
• Relevant Anatomy
• Contraindications
• Workup
• Treatment
• Complications
• Outcome And Prognosis
• Future And Controversies
• References

Gastrointestinal duplications can be found along the entire length of the gastrointestinal tract; therefore, the complications that may occur after surgical excision of gastrointestinal duplications depend on the location of the lesions.

Untreated gastrointestinal duplications may lead to the following complications:

• Severe and possibly life-threatening respiratory distress may occur in patients with cervical esophageal duplications.
• Ectopic gastric mucosa in a duplication can lead to peptic ulceration, bleeding, perforation, and peritonitis.
• Recurrent pancreatitis may occur from gastric duplications communicating with the pancreatic duct.
• Neoplastic changes have been reported in patients with untreated gastrointestinal duplications.
• Hematochezia, hemorrhoids, fistulas-in-ano, or anal abscess may recur in patients with untreated rectal duplications.

OUTCOME AND PROGNOSIS

Section 9 of 11  

• Authors and Editors
• Introduction
• Indications
• Relevant Anatomy
• Contraindications
• Workup
• Treatment
• Complications
• Outcome And Prognosis
• Future And Controversies
• References

The outcome of surgical (or medical) management of gastrointestinal duplications is favorable. Metaplastic changes that have been reported in untreated gastrointestinal duplications can be prevented, depending on the location of the duplication, by appropriate surgical intervention.

The severity and types of malformations associated with gastrointestinal duplications play a significant role in determining morbidity and mortality.

FUTURE AND CONTROVERSIES

Section 10 of 11  

• Authors and Editors
• Introduction
• Indications
• Relevant Anatomy
• Contraindications
• Workup
• Treatment
• Complications
• Outcome And Prognosis
• Future And Controversies
• References

Gastrointestinal duplications have an extremely variable presentation, and the surgical management depends on the location, size, and shape of the duplication. Controversies and future management strategies are related to management of duplications, as well as the associated anomalies.

Alimentary tract duplications are uncommon and may present as solid or cystic tumors, intussusception, perforation, or gastrointestinal bleeding. A high index of suspicion is required in such cases. Appropriate investigations, including imaging techniques, should be directed toward adequate and planned surgery.

REFERENCES

Section 11 of 11

• Authors and Editors
• Introduction
• Indications
• Relevant Anatomy
• Contraindications
• Workup
• Treatment
• Complications
• Outcome And Prognosis
• Future And Controversies
• References

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Article Last Updated: Jan 16, 2008