Esophageal leiomyomatosis -- an unusual cause of pseudoachalasia

Abstract

Esophageal leiomyomatosis is a rare hamartomatous disorder with varied presentation. In the literature, it is described mostly in children, and is associated with Alport's syndrome. A case of leiomyomatosis that presented as achalasia not associated with Alport's syndrome is described in a 35-year-old woman with a 16-year history of dysphagia. Barium swallow showed a smooth narrowing at the lower end of the esophagus with a longer than usual stricture length. Endoscopy showed a dilated esophagus with a submucosal nodule in the region of the cardia. A computed tomography scan revealed circumferential thickening of the esophagus involving the gastroesophageal junction, with fat planes maintained with the adjacent structure. Endoscopic ultrasound demonstrated a lesion arising from the muscularis propria. The manometry findings were suggestive of achalasia. She underwent transhiatal esophagectomy with gastric pull-up. Leiomyomatosis should be considered as a cause of psuedoachalasia in patients with symptoms suggestive of achalasia and atypical barium findings. Attempts should be made to confirm the diagnosis preoperatively using computed tomography and/or endoscopic ultrasound. Esophagectomy is the treatment of choice.

Figure 1)

A Barium swallow study, showing a dilated esophagus with a smooth narrowing (arrow) at the gastroesophageal junction. B Computed tomography scan, showing a circumferential wall thickening (arrow) in the region of the gastroesophageal junction with a proximal dilated esophagus

Figure 2)

A Microphotograph, showing esophageal mucosa on the right with an unencapsulated spindle cell lesion in the submucosa (hematoxylin and eosin stain, original magnification × 40). B Higher-power microphotograph, demonstrating intersecting fascicles of spindle cells possessing eosinophilic cytoplasm and normochromatic elongated nuclei. Note the absence of pleomorphism, mitotic activity or necrosis (hematoxylin and eosin stain, original magnificaion ×200)

Figure 3)

Photomicrographs from the esophagectomy specimen, showing leiomyomatous nodules (N) beneath the mucosa (M) (A and B); a higher-power view, showing spindle cells with eosinophilic cytoplasm and elongated nuclei (C); and diffuse infiltration of the leiomyomatous proliferation between the normal muscle fibres (arrow in D)