Leiomyomatosis masquerading as sigmoid achalasia: a rare occurrence.

A 34-year-old man presented with an 8-year history of dysphagia to solids and regurgitation. Evaluation by using timed barium swallow and esophageal manometry suggested a diagnosis of type I achalasia with a sigmoid configuration of the esophagus (Fig. 1). Gastroscopy revealed a dilated and tortuous esophagus with no significant resistance at the gastroesophageal junction. Peroral endoscopic myotomy was performed in this case via the posterior route (5 o’clock) using the standard technique.

Figure 1

Barium swallow and esophageal manometry suggesting the diagnosis of achalasia.

During submucosal tunneling, a whitish subepithelial tumor was visualized (Fig. 2). A submucosal tunnel was created along the upper and lower surface of the tumor to define the extent of the subepithelial lesion. However, the lateral and the distal margins of the tumor could not be delineated, even after extensive dissection along the lesion. At this point, endosonography was performed using a linear echoendoscope to delineate the size and the relations of the tumor with the surrounding structures.

Figure 2

Large subepithelial tumor identified during submucos tunneling.

Endosonography revealed a large, circumferential, heteroechoic subepithelial lesion arising from the muscularis propria (Fig. 3). The lesion appeared to be in close relation to the heart and the suprahepatic portion of inferior vena cava (Fig. 4). The lower border of the tumor extended beyond the gastroesophageal junction, and the upper border extended proximal to the subcarinal space. A snare biopsy specimen was taken from the subepithelial lesion, and the peroral endoscopic myotomy procedure was aborted in view of the circumferential nature of the tumor (Fig. 5). The mucosal incision was closed using multiple endoclips. Subsequently, contrast-enhanced CT was performed, which confirmed the findings of endosonography (Fig. 6). The histopathology results of the biopsy specimen confirmed the diagnosis of leiomyoma arising from the fourth layer of the esophagus (ie, the muscularis propria).

Figure 3

Endosonographic image revealing a large heteroechoic subepithelial tumor arising from the muscularis propria.

Figure 4

Endosonography showing the relation of subepithelial tumor with the suprahepatic inferior vena cava.

Figure 5

Snare biopsy of the subepithelial tumor.

Figure 6

CT image of the thorax revealing a large, circumferential subepithelial tumor (dashed yellow arrows).

After discussion with the patient, esophagectomy was performed. The resected esophageal specimen confirmed the preoperative diagnosis (Fig. 7). Retrospective analysis of the case along with the recorded video provided a few clues against the diagnosis of idiopathic achalasia. These included minimal resistance at the gastroesophageal junction and circumferential bulge proximal to the gastroesophageal junction (Video 1, available online at www.giejournal.org).

Figure 7

Resected esophageal specimen after esophagectomy for circumferential leiomyoma.

The coexistence of achalasia and leiomyoma is rare but has been described in the medical literature., On the other hand, diffuse involvement of the lower esophagus due to leiomyomatosis is extremely rare and can lead to pseudoachalasia.3, 4, 5 Because of the rarity of this entity, a preoperative diagnosis may be especially challenging. In our case, the clinical symptoms mimicked those of achalasia. In addition, radiological and manometry findings were suggestive of achalasia. Therefore, the diagnosis could be made only after the beginning of the submucosal tunneling procedure.

Disclosure

All authors disclosed no financial relationships.