Erdheim-Chester disease and nuclear medicine imaging. A case report and brief review

Erdheim-Chester disease (ECD) is a rare clonal myeloid neoplasm typically affecting adults over 50 years old, with bone lesions in almost all patients. The prognosis is poor in most cases if left untreated. Clinical manifestations are not specific, which hinders early diagnosis. The disease has dist...

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Bibliographic Details
Published in:Skeletal radiology 2025-02, Vol.54 (2), p.359-365
Main Authors: Bountas, D., Bountas, M., Exadactylou, P., Tziafalia, C., Dimitriadis, C., Doumas, A.
Format: Article
Language:English
Subjects:
Arthralgia
Biopsy
Bone imaging
Bone lesions
Case Report
Case reports
Diagnosis
Diagnosis, Differential
Differential diagnosis
Epiphysis
Erdheim-Chester Disease - diagnostic imaging
Female
Histiocytosis
Humans
Imaging
Magnetic Resonance Imaging - methods
Medical imaging
Medicine
Medicine & Public Health
Middle Aged
Nuclear Medicine
Orthopedics
Pathology
Patients
Radioactive tracers
Radiology
Radionuclide Imaging - methods
Radiopharmaceuticals
Scintigraphy
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Description
Summary:Erdheim-Chester disease (ECD) is a rare clonal myeloid neoplasm typically affecting adults over 50 years old, with bone lesions in almost all patients. The prognosis is poor in most cases if left untreated. Clinical manifestations are not specific, which hinders early diagnosis. The disease has distinct radiological features. However, three-phase bone scintigraphy exhibits the most typical pattern of all imaging modalities, which is the prominent strikingly symmetrical radiotracer uptake in the distal ends of the femurs and proximal and distal ends of the tibiae, sparing the epiphyses. We report a case of a 54-year-old female patient, presenting with atypical persistent knee joint pain. After an MRI scan, she underwent a three-phase bone scan, revealing the characteristic pattern, thus indicating a possible ECD diagnosis, which was eventually confirmed in biopsy material. Novel aspects of the pathophysiology and treatment of the disease, as well as a differential diagnosis from the perspective of an MSK radiologist and nuclear medicine physician, are also discussed.
ISSN:0364-2348
1432-2161
1432-2161
DOI:10.1007/s00256-024-04718-z