Navigating Diagnostic Challenges in Pseudoachalasia: A Case Study of Esophagogastric Junction Adenocarcinoma

BACKGROUND Pseudoachalasia is a rare condition, with up to 4% of cases presenting with achalasia-like symptoms. The early diagnosis of pseudoachalasia can be challenging due to nonspecific manifestations and the limited diagnostic yield of imaging modalities. This report presents the case of a 62-year-old man with a delayed presentation of pseudoachalasia with negative results of various diagnostic methods. CASE REPORT A 62-year-old man with long-term tobacco use and gastroesophageal reflux disease presented with a 2-year history of dysphagia, progressively worsening in the 2 months before this admission. Esophagogastroduodenoscopy (EGD) demonstrated an increased difficulty passing through the esophagogastric junction (EGJ) within a 1-month period. High-resolution manometry suggested EGJ outflow obstruction. Chest magnetic resonance imaging and a computed tomography scan showed a small nodule of the upper lobe of the left lung, suspected to be a tuberculosis lesion, no dilated esophagus, mild thickening of the muscle layer of the distal esophagus, and EGJ. An endoscopic ultrasound was performed, and no clues of malignancy were found. After a failed peroral endoscopic myotomy, a nasogastric tube was placed for nutrition support. Multiple biopsies produced normal findings. After 3 sessions of pneumatic dilation, with rapid recurrence of dysphagia and a failed stent replacement, surgical intervention was performed, revealing adenocarcinoma at the EGJ. CONCLUSIONS Pseudoachalasia due to EGJ adenocarcinoma should be suspected in patients without weight loss, regardless of the duration of symptom onset or imaging findings. Surgical exploration may be warranted early in selected patients when a definitive diagnosis of pseudoachalasia remains elusive despite extensive investigation.