Jeffrey N Harr, MD, MPH, Fred Brody, MD, MBA. The George Washington University
Pseudoachalasia occurs in approximately 4% of all achalasia patients. A vast majority is caused by malignancies involving the distal esophagus and/or gastric cardia, and can mimic idiopathic achalasia. Often, manometry cannot distinguish between achalasia and pseudoachalasia, and diagnosis is dependent on endoscopic and radiologic studies.
We present a 51-year old woman with a 2-year history of progressive dysphagia. She has a significant history for stage IIB breast cancer treated by lumpectomy, axillary lymph node dissection, and chemoradiation. Over the past 2 years, she reported significant weight loss, with a current BMI of 18.6. She was initially evaluated with an UGI, which demonstrated a dilated, sigmoid esophagus, with a tapering, consistent with achalasia. Subsequently, an upper endoscopy revealed a dilated esophagus with retained food and no definitive masses. Manometry was consistent with achalasia. However, a CT scan, obtained as a result of her prior cancer history, revealed a large homogenous mass at the gastroesophageal junction involving both the distal esophagus and proximal stomach. Endoscopic ultrasound with fine needle aspiration revealed spindle cells, which were S100 positive and CD117 negative. The mass appeared to be arising from the submucosal layer and completely encircled the esophagus. The differential diagnosis included leiomyoma, leiomyosarcoma, and a gastrointestinal stromal tumor.
The patient underwent a laparoscopic excision of the gastroesophageal mass. After mobilization of the distal esophagus, the outer longitudinal and inner circular muscles were divided exposing the submucosal mass. The mass appeared to be encapsulated, and was dissected off the muscular and submucosal layers of the esophagus. The muscular layers were then reapproximated, and a paraesophagel hernia was repaired. Pathology revealed an 8.5 x 6.3 x 3.7 cm tumor with degeneration, necrosis, and calcifications. There was no significant cellularity, atypia, or mitoses. Immunohistochemistry was consistent with a benign leiomyoma.
The patient had an uncomplicated hospital course, and was discharged on post-operative day 2 on a soft mechanical. On follow-up, she had no evidence of reflux or dysphagia. Large leiomyomas of the distal esophagus or gastric cardia can be safely excised laparoscopically, even in the setting of pseudoachalasia.