Case Report
Copyright ©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastrointest Oncol. Jul 15, 2025; 17(7): 108162
Published online Jul 15, 2025. doi: 10.4251/wjgo.v17.i7.108162
Pseudoachalasia as first manifestation of a diffusely infiltrative esophageal squamous cell carcinoma: A case report
You-Sheng He, Chi-Yu Lee, Tze-Yu Shieh
You-Sheng He, Department of Internal Medicine, MacKay Memorial Hospital, Taipei 104, Taiwan
Chi-Yu Lee, Tze-Yu Shieh, Division of Gastroenterology and Hepatology, Department of Internal Medicine, MacKay Memorial Hospital, Taipei 104, Taiwan
Co-corresponding authors: Chi-Yu Lee and Tze-Yu Shieh.
Author contributions: He YS wrote the manuscript; Shieh TY and Lee CY were involved in the clinical management and treatment of the patient, they contributed equally to this article, they are the co-corresponding authors of this manuscript; and all of the authors reviewed and approved the final version of the manuscript.
Informed consent statement: Informed consent was obtained from the patient for publication of this article and images.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Tze-Yu Shieh, MD, Division of Gastroenterology and Hepatology, Department of Internal Medicine, MacKay Memorial Hospital, No. 92 Sec. 2 Chung-Shan North Road, Taipei 104, Taiwan. range0425@gmail.com
Received: April 10, 2025
Revised: May 8, 2025
Accepted: June 9, 2025
Published online: July 15, 2025
Processing time: 95 Days and 11.4 Hours
Abstract
BACKGROUND

Pseudoachalasia closely mimics the clinical symptoms of idiopathic achalasia in both clinical symptoms and diagnostic findings, including those from high-resolution manometry and barium esophagography. The similarities often lead to misdiagnosis and the delay of appropriate treatment management. Although most malignancy-associated pseudoachalasia cases are attributed to adenocarcinoma at the gastroesophageal junction, pseudoachalasia due to esophageal squamous cell carcinoma (ESCC) should also be considered. However, the diffuse infiltrative growth patterns that can occur with ESCC can make diagnosis challenging.

CASE SUMMARY

We report the case of a 60-year-old man who presented with progressive dysphagia, weight loss, and nocturnal cough. Esophagogastroduodenoscopy, timed barium esophagogram, and high-resolution manometry were conducted. The results of these investigations supported a diagnosis of type II idiopathic achalasia. However, preoperative computed tomography revealed atypical findings, which prompted further evaluation. Repeat endoscopy with magnifying narrow-band imaging identified abnormal mucosal and vascular patterns, and endoscopic ultrasound demonstrated hypoechoic submucosal lesions with involvement of the muscularis propria. Targeted biopsies confirmed moderately differentiated ESCC. Positron emission tomography revealed extensive metastatic disease; therefore, the patient was diagnosed with stage IVB ESCC. Peroral endoscopic myotomy was aborted, and the patient was referred for palliative chemoradiotherapy.

CONCLUSION

Atypical malignant features should be critically examined. Multimodal tools such as magnifying narrow-band imaging and endoscopic ultrasound are essential for diagnosing pseudoachalasia.

Keywords: Pseudoachalasia; Achalasia; Esophageal squamous cell carcinoma; Magnifying endoscopy; Endoscopic ultrasound; Case report

Core Tip: Pseudoachalasia is a rare condition that mimics idiopathic achalasia; therefore, it is frequently misdiagnosed. We report a case of pseudoachalasia caused by diffusely infiltrative esophageal squamous cell carcinoma that was initially misdiagnosed despite conventional imaging and manometric techniques. Magnifying endoscopy and narrow-band imaging and endoscopic ultrasound were essential in identifying subtle malignancy features. This case highlights the importance of maintaining clinical suspicion and utilizing advanced diagnostics to differentiate pseudoachalasia from primary achalasia.