Clinical presentation

A 23-years-old Caucasian man was admitted to our institution for progressive weight loss and dysphagia. His past medical history was apparently unremarkable, including his laboratory tests, except for the presence of uninvestigated episodes of dysphagia he had since childhood.

The patient performed a barium oesophagogram which showed oesophageal dysmotility (figure 1A) followed by an oesophagogastroduodenoscopy, demonstrating the presence of multiple tubular duplications of the middle and distal third of the oesophagus, with a contextual stricture of the lumen crossable only with ultrathin endoscope (GIF XP160; Olympus, Tokyo, Japan) (figure 2 and see online supplementary video 1). The gastroduodenal mucosa appeared regular. Multiple biopsies of the proximal two-thirds of the oesophagus were performed. A thoracic CT scan, with …