Maffucci Syndrome With Extraosseous Chondrosarcoma Imaged With F-18 FDG PET-CT

Maffucci syndrome is a rare congenital mesodermal dysplasia, characterized by multiple enchondromas and hemangiomas. The syndrome is nonhereditary, and the etiology remains unknown. We present a 42-year-old man with known Maffucci syndrome who had a fluoro-deoxy-glucose positron emission tomography-computed tomography (F-18 FDG PET-CT) scan done for a growing extraosseous mass arising front a known left femoral enchondroma. The PET-CT showed intense FDG uptake in the mass, which was histologically proven to be a myxoid chondrosarcoma. Imaging of patients with Maffucci syndrome with F-18 FDG PET-CT may prove to be useful in detecting malignant transformation of enchondromas in this syndrome.