Erdheim ‑Chester disease of multisystem involvement with delayed diagnosis: A case report and literature review

Exp Ther Med. 2024 Feb 22;27(4):159. doi: 10.3892/etm.2024.12447. eCollection 2024 Apr.ABSTRACTErdheim-Chester disease (ECD) is a rare tumor of histiocytic origin, characterized by foamy or lipid-laden histiocytes mixed or surrounded by fibrosis that infiltrate multiple organs. Misdiagnosis is common due to the diversity of clinical presentations. The present study reported a case of ECD with the involvements of bone, cardiac, aorta and retroperitoneum. The patient had no obvious clinical symptoms and no noteworthy foamy histiocytes or Touton giant cells were found on pathological examination, delaying the diagnosis. The patient was a young male found to have pericardial effusion on physical examination, and computed tomography (CT) revealed soft tissue infiltrates in the retroperitoneum and around the aorta. A mediastinal biopsy revealed fibrous connective tissue with small-vessel hyperplasia and acute-chronic inflammatory cell infiltration. The initial diagnosis was retroperitoneal fibrosis (RPF), and hormonal and tamoxifen treatments were administered. The patient presented with oliguria, eyelid edema and fever four years later. A repeat CT revealed an increase in the extent of tissue infiltration and pericardial effusion compared with the previous CT. Subsequent cardiac magnetic resonance imaging revealed massive thickening in the form of fibrotic tissue infiltrating the heart and surrounding thoracic and abdominal aorta. Single photon emission CT revealed multiple areas ...
Source: Experimental and Therapeutic Medicine - Category: General Medicine Authors: Source Type: research