1221 - Maffucci Syndrome: A Case Study

Maffucci syndrome is a rare (less than 300 cases reported globally), non-hereditary genetic disorder in which patients can present with multiple enchondromas, soft tissue hemangiomas, and lymphangiomas. The pathogenesis involves mutations in the isocitrate dehydrogenase genes, most commonly IDH1, and sometimes IDH2. This mutation leads to abnormal proliferation of chondrocytes, causing multiple enchondromas and contributing to tumorigenesis throughout the body. Enchondromas can cause significant pain, swelling, bone deformity, limb shortening, and increase risk of pathological fractures. Maffucci syndrome is also associated with an increased risk of chondrosarcoma and visceral malignancies. A multidisciplinary team approach including orthopedics and rehabilitation is a vital component to patients’ care to allow them to function as an involved member of their community.

Conclusions: Post operatively, our patient with Maffucci syndrome continues to stay active at home participating in resistance training and aerobic exercise on an anti-gravity treadmill. This case highlights the importance of a lifelong adaptive program with orthopedics, physiatry, and physical/occupational therapy to create a personalized rehabilitation treatment plan addressing restoration of range of motion, contracture prevention, and progressive mobility.