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Journal of Case Reports
Erdheim-Chester Disease: Multisystem Involvement
Christina Konstantopoulos, Ritu Gill
Department of Radiology, Beth Israel Deaconess Medical Center, 330 Brookline Ave. Boston MA 02215, Massachusetts, United States.
Corresponding Author:
Dr. Christina Konstantopoulos 
Email: ckonstan@bidmc.harvard.edu
Received: 15-MAR-2020 Accepted: 08-JUL-2020 Published Online: 05-AUG-2020
DOI: http://dx.doi.org/10.17659/01.2020.0042
Background: Erdheim-Chester disease is a rare disease characterized by multi-organ infiltration of non-Langerhans cell histiocytes. The diagnosis can be difficult and a high index of suspicion is required to combine the constellation of multi-organ imaging features. Recent research has detected a mutated proto-oncogene BRAFV600E in over half of the cases. Case Report: We report a case of a 75-year-old woman who presented with 5 months of left knee pain. On further workup, she was found to have to multi-organ involvement for Erdheim-Chester disease. Conclusion: Erdheim-Chester disease requires a high index of suspicion along with awareness of the various clinical and radiological manifestations for accurate diagnosis.
Keywords : Erdheim-Chester disease, Histiocytes, Pain, Proto-Oncogenes, Radiology.
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