Esophageal duplication cyst mimicking type I achalasia in an adult female: A rare case report with diagnostic challenges

Background

Esophageal duplication cysts (EDCs) are rare congenital anomalies typically diagnosed in infancy. Adult presentations are uncommon and may mimic other esophageal pathologies, including motility disorders such as achalasia, posing diagnostic challenges.

Case presentation

We report the case of a 45-year-old Arab female with a seven-year history of progressive dysphagia, halitosis, and retrosternal burning. Radiological and manometric findings were initially suggestive of type I achalasia. However, intraoperative findings revealed an esophageal diverticulum containing purulent material, and histopathological analysis confirmed a duplication cyst lined by respiratory-type epithelium with a well-formed muscular wall. The cyst was successfully resected laparoscopically, and symptoms resolved postoperatively.

Clinical discussion

Although achalasia has a well-defined manometric profile, rare structural anomalies such as duplication cysts can mimic its presentation. The absence of pathognomonic imaging findings, combined with non-specific clinical symptoms, may result in misdiagnosis. High-resolution manometry, while useful, may not distinguish between primary motility disorders and extrinsic or intramural mechanical causes. Surgical exploration remains the definitive diagnostic and therapeutic step in atypical or unresponsive cases.

Conclusion

Esophageal duplication cysts should be considered in the differential diagnosis of achalasia-like presentations, especially when findings are atypical or symptoms progress despite standard evaluation. Early recognition and surgical resection are key to definitive management and symptom resolution.