What is the diagnosis and treatment for a duplication cyst (congenital anomaly)?

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Last updated: March 14, 2025View editorial policy

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From the Guidelines

Duplication cysts should be treated with surgical excision, regardless of symptoms, to prevent future complications such as malignant transformation, bleeding, or obstruction, as recommended by the most recent and highest quality study 1.

Diagnosis and Treatment

A duplication cyst is a rare congenital abnormality that forms during embryonic development when a portion of the gastrointestinal tract duplicates abnormally. These cysts can occur anywhere along the digestive tract from the mouth to the anus, but most commonly affect the ileum, followed by the esophagus, jejunum, and colon.

Key Characteristics

  • Duplication cysts typically contain mucosa similar to the adjacent gastrointestinal segment and have a smooth muscle wall.
  • Symptoms vary depending on location and size but may include abdominal pain, nausea, vomiting, bleeding, obstruction, or a palpable mass.
  • In some cases, they remain asymptomatic and are discovered incidentally.

Diagnostic Approaches

  • Diagnosis usually involves imaging studies such as ultrasound, CT scan, or MRI, which can show the characteristic double-wall sign.
  • Endoscopic ultrasound may also be helpful for certain locations, as it can show an anechoic, smooth, spherical, or tubular structure with a well-defined wall 1.

Treatment Recommendations

  • The recommended treatment for symptomatic duplication cysts is surgical excision, which typically involves complete removal of the cyst while preserving the adjacent normal bowel.
  • For asymptomatic cysts, surgical removal may still be recommended to prevent future complications, as suggested by the most recent study 1.
  • EUS-FNA is often not required to establish the diagnosis and should be avoided for mediastinal lesions because mediastinitis is a recognized complication 1.

Embryological Basis

The embryological basis for these cysts likely involves errors in recanalization, split notochord theory, or abnormal diverticulation during fetal development. Some key points to consider when diagnosing and treating duplication cysts include:

  • Characteristic endosonographic appearance, which can help differentiate them from other subepithelial lesions 1.
  • The presence of a smooth muscle wall and mucosa similar to the adjacent gastrointestinal segment.
  • The potential for complications such as malignant transformation, bleeding, or obstruction, which can inform treatment decisions.

From the Research

Diagnosis of Duplication Cysts

  • Duplication cysts are rare congenital malformations that can be diagnosed using contrast-enhanced computed tomography (CT) scans or other imaging studies 2, 3, 4.
  • The diagnosis of duplication cysts can be challenging, especially in cases where the cyst is completely isolated from the digestive tract 2.
  • A definitive diagnosis of duplication cysts is often made after surgical resection and histopathological examination of the cyst 2, 3, 4.

Treatment of Duplication Cysts

  • Surgical excision is the recommended treatment for duplication cysts, as it can help prevent potential complications such as malignancy, ulcerative bleeding, and perforation 2, 3, 5, 6, 4.
  • Laparoscopic surgery is a favorable approach for the treatment of duplication cysts, as it is minimally invasive and allows for intraoperative inspection 2, 3, 6.
  • Robotic-assisted surgery is also a viable option for the excision of duplication cysts, as it can provide a safe and precise excision of the cyst without bowel resection 5.
  • Complete excision of the cyst is the treatment of choice, either by the open method or laparoscopic method, to prevent potential complications 5, 6, 4.

Considerations for Duplication Cysts

  • Duplication cysts should be considered in the differential diagnosis of abdominal masses, especially in cases where more common diagnoses have been excluded 3, 4.
  • Comprehensive imaging studies and histopathological examination are essential for accurate diagnosis and treatment of duplication cysts 4.
  • The possibility of malignancy, ulcerative bleeding, and perforation should be considered when diagnosing and treating duplication cysts 2, 4.

References

Guideline

Guideline Directed Topic Overview

Dr.Oracle Medical Advisory Board & Editors, 2025

Research

A unique case of enteric duplication cyst in a neonate: A case report study.

International journal of surgery case reports, 2025

Research

Laparoscopic and Laparoscopy-Assisted Resection of Enteric Duplication Cysts in Children.

Journal of laparoendoscopic & advanced surgical techniques. Part A, 2015

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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