Contributed by
Ospedale Pediatrico Bambino Gesù Roma
Flavia Cobianchi Bellisari, Veronica Bordonaro, Paolo Ciancarella, Davide Curione, Carmela Napolitano, Teresa Pia Santangelo, and Aurelio Secinaro.
History
Female neonate born at term by cesarean section for meconium-stained amniotic fluid, with a prenatal diagnosis of suspected right-sided congenital pulmonary airway malformation (CPAM). At birth, she presented with cardiorespiratory depression and hypotonia and subsequently required intubation.
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Question
What is the most likely diagnosis?
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Correct answer
Enteric duplication cyst
Discussion
Esophageal duplication cysts are congenital malformations of the foregut, presenting as cystic lesions that are adherent to or embedded within the esophageal wall. They are most commonly located in the distal esophagus, followed by the middle and proximal segments, and are frequently found in the posterior mediastinum, typically in the right paravertebral region. In approximately 80% of cases, these cysts do not communicate with the esophageal lumen. Histologically, they may contain ectopic mucosa, most often gastric (reported in up to one-third of cases), and more rarely pancreatic tissue.
Imaging features of esophageal duplication cysts typically vary by modality but show consistent patterns. On chest radiography, they appear as a well-defined posterior mediastinal opacity, sometimes associated with a mass effect on the trachea or esophagus. Computed tomography, the gold standard for evaluation, usually demonstrates a round or ovoid cystic lesion with fluid attenuation (0–20 HU, which may increase in cases of proteinaceous or hemorrhagic content). The wall is thin, with no significant enhancement, although mild peripheral enhancement can occasionally be seen. These lesions characteristically have a close anatomical relationship with the esophagus and generally do not communicate with its lumen.
On MRI, signal characteristics depend on the cyst content: lesions are hypo- to hyperintense on T1-weighted images (particularly if protein-rich) and markedly hyperintense on T2-weighted images, making MRI particularly useful for content characterization. On ultrasound, when accessible, they appear as an anechoic lesion with a characteristic double-layered wall, known as the “gut signature.”
Differential diagnosis
Lymphatic malformations are the main differential diagnosis.
References
- - Wahi JE, Safdie FM. Esophageal duplication cysts: a clinical practice review. Mediastinum. 2023;7:1. doi:10.21037/med-22-33. PMID: 36926292; PMCID: PMC10011867. - Tjendra Y, Lyapichev K, Henderson J, Rojas CP. Foregut duplication cyst of the stomach: a case report and review of the literature. Case Rep Pathol. 2016;2016:7318256. doi:10.1155/2016/7318256. PMID: 26998376; PMCID: PMC4779517. - Macpherson RI. Gastrointestinal tract duplications: clinical, pathologic, etiologic, and radiologic considerations. Radiographics. 1993;13(5):1063–1080. doi:10.1148/radiographics.13.5.8210590. PMID: 8210590.