Tubular Duplication of the Esophagus - A Rare Cause of Dysphagia in the Adult

Abstract

Purpose: Duplication of the esophagus is a rare congenital malformation caused by an error in early embryogenesis. The Dutch anatomist Gerhard Blaes first described this anomaly in the eighteenth century. The incidence is about 1 in 8200. While the cystic form is more commonly observed the tubular type of esophageal duplication seems to be extremely rare - with about 5-10% of these cases. Most of the patients suffering from esophageal duplication (70-90%) become symptomatic in childhood and are diagnosed before 2 years of age. To our knowledge, only few case reports exist with tubular esophageal duplication, incidentally discovered in adulthood. Methods: A 48-year-old male Caucasian was referred to our department, suffering from progressive dysphagia since 2 years. The findings leading to the diagnosis: “tubular duplication of the esophagus” will be presented. Results: Upper GI endoscopy revealed a stenosis of unknown origin at 25 cm from the incisors, which could not be passed with a conventional endoscope (Ø 8.8 mm). The stenosis was marked by two lumina separated by a bridge of intact mucosal epithelium. Using a filling catheter, both lumina could be explored by fluoroscopy showing that both tubular structures eventually lead into the stomach. CT scans showed extensive thickening of the esophageal wall, probably due to scarring, with formation of a septum in the esophageal lumen. After dilation therapy, upper GI endoscopy was again performed with a pediatric endoscope (Ø 5.9 ). The stenosis at 25 cm from the incisors could be passed and a normal gastro-esophageal junction was seen at 42 cm. At 38 cm from the incisors, a septum of intact mucosa was found similar to that in the proximal esophagus. Again, two lumina could be observed, however, only the larger lumen could be intubated. A guide-wire, introduced at 25cm showed communication of the two esophageal ducts at 35cm. Miniprobe endosonography revealed normal layers of the esophageal wall as well as within the septum. Kinematography showed a long-segment stenosis of the upper esophagus and an additional filiform, blind-ending lumen ventral of the esophageal main lumen. Conclusion: With regard to the present literature, surgery is the first-line treatment of tubular esophageal duplication. Esophagectomy and gastric interposition should also prevent malignant transformation, which may occur. Following this extensive operation, numerous adjustments in daily life have to be managed by the patients. PPI therapy is thought to relieve symptoms of dysphagia. In our case, dilation therapy and PPI medication have led to slight clinical improvement with satisfactory relief of the patients complaints. At the time being, the patient refuses surgery.