Esophageal leiomyomatosis presenting as achalasia diagnosed by high-resolution manometry and endoscopic core biopsy

Abstract

m Esophageal leiomyomatosis is a rare disorder characterized by hamartomatous proliferation of the esophageal muscularis propria and leiomyomata in the esophageal wall.1 This condition may be sporadic or familial, an isolated disease or associated with Alport’s syndrome, and include leiomyomata within and outside of the GI tract.1,2 It presents with hronic dysphagia and may present anatomically with focal tricture or diffuse esophageal involvement,1-4 often diagosed at surgery. Esophageal leiomyomatosis rarely has been eported to cause “pseudoachalasia” by barium studies and y descriptive manometric data only.1,5,6 This is the first case to confirm a manometric pattern of achalasia on highresolution manometry and establish the diagnosis preoperatively by endoscopic esophageal core biopsy.