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12 February 2024 : Case report  USA

[In Press] Erdheim-Chester Disease Occult on Radiographs and CT but Visible on MRI and PET

Challenging differential diagnosis, Rare disease

Minsoo Kim ORCID logo1ABCDEF, Steven P. Rowe1DE, Tej I. Mehta1ABCDEF

DOI: 10.12659/AJCR.941169

Am J Case Rep In Press; DOI: 10.12659/AJCR.941169  

Available online: 2024-02-12, In Press, Corrected Proof

Publication in the "In-Press" formula aims at speeding up the public availability of the pending manuscript while waiting for the final publication. The assigned DOI number is active and citable. The availability of the article in the Medline, PubMed and PMC databases as well as Web of Science will be obtained after the final publication according to the journal schedule


Erdheim-Chester disease (ECD) is a rare neoplasm of histiocytes that is characterized by prominent involvement of the long bones. Approximately 1500 cases have been reported since the disease was first described in 1930. The imaging appearance of ECD can be highly variable given the numerous systems it can affect. In this case report we discuss a patient whose ECD was occult on multiple imaging modalities.
We report the case of a 60-year-old woman who presented with sub-acute left knee and calf pain that led to an MRI. She was found to have innumerable marrow-replacing lesions in the axial and appendicular skeleton visualized on the initial MRI, as well as on an ¹⁸F-FDG PET/CT scan. The patient did not have extraosseous abnormal uptake on the PET/CT. Subsequently, a lesion from the left iliac bone was histologically confirmed as ECD on the basis of positive staining for CD68 and CD163 and negative staining for CD1a. Osseous lesions in ECD have a distinct imaging appearance and are typically detected by radiography and bone scintigraphy, among other modalities; however, the lesions in this case were unexpectedly absent from those studies.
If there is a high degree of suspicion for ECD, 18F-FDG PET/CT and/or MRI may be necessary for adequate visualization of bone lesions, given that those lesions can have an infiltrative nature that may be difficult to image with other anatomic imaging modalities. Use of 18F-FDG PET/CT and/or MRI may also lead to adequate guidance of confirmatory biopsy.

Keywords: Erdheim-Chester Disease; Histiocytosis; Magnetic Resonance Imaging; Positron Emission Tomography Computed Tomography

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Challenges of Post-Venipuncture Jugular Venous Thrombosis in Patients with Secondary Hyperparathyroidism: A...

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Neurotrophic Keratopathy in Marfan Syndrome Patient After Micropulse Transscleral Cyclophotocoagulation: A ...

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Definitive Closure Using an Ovine Reinforced Tissue Matrix in Contaminated Penetrating Abdominal Trauma

Am J Case Rep In Press; DOI: 10.12659/AJCR.943188  

10 Jan 2024 : Case report  China (mainland)

Herpes Simplex Keratitis as a Complication of Pterygium Surgery

Am J Case Rep In Press; DOI: 10.12659/AJCR.942401  

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923