Thoracic, abdominal and musculoskeletal involvement in Erdheim-Chester disease: CT, MR and PET imaging findings

Abstract

BackgroundErdheim-Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis with characteristic radiological and histological features. This entity is defined by a mononuclear infiltrate consisting of lipid-laden, foamy histiocytes that stain positively for CD68 and negatively for CD1a. Osseous involvement is constant and characteristic. Extra-osseous lesions may affect the retroperitoneum, lungs, skin, heart, brain and orbits.MethodsBoth radiography and technetium-99m bone scintigraphy may reveal osteosclerosis of the long bones, which is a typical finding in ECD. For visceral involvement, computed tomography (CT) is most useful, while magnetic resonance (MR) imaging is more sensitive for cardiovascular lesions; 2-[fluorine-18] fluoro-2-deoxy-d-glucose (FDG) positron emission tomography (PET)/CT scanning is useful in assessing the extension of ECD lesions.ResultsThe prognosis is extremely variable and is often worse when there is cardiovascular system involvement. Diagnosis is based on the combination of radiographic, CT, MR imaging and nuclear medicine features and a nearly pathognomonic immunohistochemical profile.ConclusionThe aims of this work are to perform a systematic review of Erdheim-Chester disease as seen on imaging of the chest, abdomen and musculoskeletal system and to discuss the diagnostic workup and differential diagnoses according to the imaging presentation.Teaching points• Bone involvement is usually present in patients, and the imaging findings are pathognomonic of ECD.• The circumferential periaortic infiltration may extend to its branches, sometimes becoming symptomatic.• Cardiac involvement—the pericardium, right atrium and auriculoventricular sulcus—worsens its prognosis.• Perirenal infiltration extending to the proximal ureter is highly suggestive of this disease.

The role of 18FDG, 18FDOPA PET/CT and 99mTc bone scintigraphy imaging in Erdheim–Chester disease

“…Furthermore, CT is also the most widely technique used for image-guided biopsy. However, none of these imaging modalities is able to provide a global assessment of the extent and activity of the disease [27]. In this vein, the sensitivity varied greatly among the different sites of involvement we studied, but 18FDG-PET scanning showed excellent specificity when compared with most other imaging modalities.…”

Heterogeneous Manifestations of Four Cases with Erdheim-Chester Disease by Nuclear Medicine Imaging Modalities:Case Report

“…Compared to conventional CT imaging or X-ray, nuclear medicine imaging methods, such as whole body bone scintigraphy and positron emission tomography/computed tomography (PET-CT), are better in identifying the majority of lesions and are more accurate in mapping-out the disease. 19 Isolated or common bone pain is the most frequent symptom of ECD. 20 Tc-99m MDP scintigraphy showed typical bone lesions affecting the appendicular skeleton consisting of the femur, tibia and fibula and less frequently the ulna, radius and humerus in the four cases we reported.…”

En kvinne med residiverende feber, tørrhoste og ascites

“…Symmetrisk osteosklerose i diafysene og metafysene i lange rørknokler, inflammatoriske forandringer rundt aorta (coated aorta) og perirenal infiltrasjon av histiocytter (hårete nyrer) er typiske radiologiske funn (25,28,29). Sistnevnte er naermest patognomonisk for tilstanden og en viktig grunn til at diagnosen tidlig ble mistenkt hos vår pasient.…”