A rare case of Erdheim-Chester disease with esophageal involvement: unusual imaging findings

Erdheim-Chester disease (ECD) is an uncommon non-Langerhan cell histiocytosis that affects multiple systems and most commonly involves the bones. A 34-year-old patient with a three-month history of progressive dysphagia, underwent the gastroscopy which revealed esophageal mucosal constriction 34 cm from the incisor and external pressure stenosis. Enhanced computed tomography (CT), magnetic resonance imaging (MRI), and 2-[fluorine-18] fluoro-2-deoxy-d-glucose (18F-FDG) positron emission tomography (PET)/CT findings confirmed diffuse soft-tissue infiltration filled periesophageal space and excluded lesions involving the bone and other organs within the scanning range. The patient was later diagnosed with esophageal involvement of ECD by thoracotomy surgery and paraesophageal soft tissue biopsy. Progressive dysphagia, a rare clinical manifestation of ECD, has been reported in only two cases. It is the first demonstration of MRI and PET/CT imaging findings of ECD esophageal invasion as far as we known. Through the comparison of multiple images, we have a preliminary recognition of characteristic radiological features of gastrointestinal infiltration in ECD.