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Erdheim-Chester Disease: A Case Report

Rare disease, Educational Purpose (only if useful for a systematic review or synthesis)

Jean Alexiou, Jean Klastersky

Department of Radiology, Institut Jules Bordet, Brussels, Belgium

Am J Case Rep 2015; 16:361-366

DOI: 10.12659/AJCR.892750

Available online:

Published: 2015-06-11

BACKGROUND: The diagnosis of Erdheim-Chester disease, a rare illness, is difficult and requires increased awareness.
CASE REPORT: We report the case of a 56-year-old woman who initially presented with a mesenteric panniculitis and 8 years later developed neurological manifestations and bone lesions that led to a diagnosis of Erdheim-Chester disease.
CONCLUSIONS: The rather characteristic aspect of the bone lesions as well as the presence of foamy cells in involved tissue biopsies should suggest the diagnosis. No therapy is available at present but recent biological data might suggest new approaches for the understanding and therapy of this condition.

Keywords: Diagnosis, Differential, Biopsy, Erdheim-Chester Disease - diagnosis, Female, Humans, Magnetic Resonance Imaging, Middle Aged, Tomography, X-Ray Computed