Gastrointestinal Duplications Clinical Presentation

Updated: Jun 23, 2020
  • Author: Amulya K Saxena, MD, PhD, DSc, FRCS(Glasg); Chief Editor: Harsh Grewal, MD, FACS, FAAP  more...
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Presentation

History and Physical Examination

The presentation of a gastrointestinal (GI) duplication depends on its size and location. [11]

Cervical duplications

Patients with cervical duplications present with respiratory distress that may be life-threatening and necessitates 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. [12] Massive hemorrhage from gastric duplications can occur even in elderly patients. [13]

Duodenal duplications

About 15% of these duplications contain ectopic gastric mucosa, which predisposes the patient to ulceration. Peptic ulceration may lead to painless GI 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.

Pyloric duplications

These are extremely rare and can present with signs of gastric outlet obstruction. [14]

Small-intestine duplications

Clinical presentation depends on the type, size, location, and mucosal lining of the duplication. [15] 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. Cecal duplications are rare and may present as an appendicular abscess, a tumor, or necrotizing enterocolitis. [16]

Colonic duplications

Cystic colonic duplications either are 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. [9] Rectal duplications may present as unusual external cysts. [17]