Diffuse esophageal leiomyomatosis: A case report with surgical correlation

A 15 year old female with a history only significant for long standing dysphagia and intermittent chest pain underwent a screening chest radiograph. Findings of a large mass prompted cross sectional imaging where extensive and marked diffuse esophageal thickening was demonstrated. The patient ultimately underwent biopsy and surgical resection for diffuse esophageal leiomyomatosis. Diffuse leiomyomatosis of the esophagus has been described in the literature for about 100 years with increasing recognition in more recent times. There is a known association with inherited syndromes such as Alport and Esophageal-Vulvar syndrome, though some cases are sporadic. This case report will demonstrate the imaging features of diffuse esophageal leiomyomatosis utilizing multiple modalities including radiography, fluoroscopy, CT, and MRI, with surgical and pathologic correlation.