Objective: Osteopetrosis (OP) is a rare, heritable skeletal disorder that is caused by osteoclast dysfunction, leading to failure of bone resorption and increased bone density. The fragility of such dense bone may result in an increased incidence of fractures. Furthermore, surgery in patients with OP is associated with increased technical difficulty and a higher risk of complications.
Case Report: We report a case of a 20-year-old woman with autosomal dominant OP who developed a subtrochanteric femoral fracture. The fracture was treated by open reduction and internal fixation using a dynamic hip screw. Although technical difficulties were experienced and an intraoperative femoral neck fracture occurred, the surgical outcome was satisfactory. Union of the fractures was visible on radiographs obtained 12 months postoperatively. At 2 years postoperatively, the patient was completely free of any complications resulting from her injury and treatment.
Conclusion: Open reduction and internal fixation may be an effective option for fractures in patients with OP. Orthopedic surgeons should be aware that the increased density and stiffness of osteopetrotic bone increases the risks of intraoperative technical difficulties, iatrogenic fractures, and postoperative complications.
Kgeywords: osteopetrosis, autosomal dominant osteopetrosis, subtrochanteric fracture, dynamic hip screw