Diffuse esophageal leiomyomatosis: another cause of pseudoachalasia

Abstract

The patient was a 22-year-old woman who had presented in early childhood with gastroesophageal reflux and who subsequently underwent surgery. It was commented upon by the surgeons at that time that the esophagus was abnormally thickened. The patient subsequently presented during her first pregnancy with a vulval tumor, which proved histologically to be a leiomyoma. She was also found to have a grossly dilated esophagus and was thought to have achalasia. However, endoscopic ultrasound imaging showed gross hypertrophy of the mid- and distal esophageal wall, with only mild symptoms of dysphagia, which had been long-standing. The appearance of the esophagus was consistent with diffuse esophageal leiomyomatosis. In view of the associated vulval leiomyoma, the patient demonstrated esophagovulvar syndrome.