DOI: 10.36347/sjmcr.2018.v06i09.016

Pages: 668-673

Erdheim-Chester Disease is a rare, non-Langerhans cell histiocytosis firstly described in 1930. It may effect all age groups, but more commonly in males between the 5th and 7th decades of life. The etiopathogenesis is not clear yet but in recent years, BRAF gene mutation is found at least 50% of cases. Clinical spectrum is protean and depends on the involved organs and systems. Since the skeletal system is commonly effected and bone pain is the most common symptom in presentation, orthopedists may encounter with those patients in routine practice. Bone scintigraphy and PET/CT are the most commonly used diagnostic tools and magnetic resonance imaging of bone may provide a valuable addition to the diagnosis. Treatment mainly depends on the extent of the organ damage. In this paper, we present magnetic resonance and PET/CT imaging findings of an Erdheim-Chester Disease case with extensive bone involvement and review the related recent literature.