An Intramedullary Approach to the Management of Pathological Distal Femur Fracture in Genochondromatosis: A Case Report.

Genochondromatosis is a rare disorder characterized by symmetrical enchondromas, most commonly affecting the knee joint. Although benign, the presence of cartilaginous lesions weakens the bone, predisposing individuals to pathological fractures that present significant management challenges due to altered anatomy, limited treatment guidelines, and restricted implant options. We present the first documented case of managing a pathological distal femur fracture in a 22-year-old male patient with genochondromatosis. The patient presented with an inability to bear weight following a fall. Clinical and radiological evaluation revealed multiple metaphyseal lesions involving the femur, tibia, humerus, clavicle, radius, and ulna, consistent with genochondromatosis. A family history of similar skeletal abnormalities suggested a hereditary pattern. Due to the abnormal morphology of the distal femur, conventional extramedullary fixation was unsuitable. An intramedullary implant was selected for its biomechanical benefits, offering comprehensive stabilization across the femur and promoting optimal healing. Surgical challenges included the flared distal fragment and the absence of normal anatomical landmarks. Postoperative follow-up showed a progressive union of the fracture. The patient was allowed full weight bearing at three months and achieved complete functional recovery by 12 months. This case demonstrates the effective use of an intramedullary implant in a complex pathological fracture associated with genochondromatosis and underscores the importance of individualized pre-operative planning and fundamental fracture management principles in the setting of benign skeletal dysplasias.