Alajlan Ajlan, Alkhudhayri Abdulaziz, Alshehri Salem, Almadah Mohamed, Othman Mohamed
Prince sultan military medical city, Riyadh, Saudi Arabia.
College of medicine, Qassim university, Qassim, Saudi Arabia.
Int J Surg Case Rep. 2025 Aug;133:111592. doi: 10.1016/j.ijscr.2025.111592. Epub 2025 Jun 30.
Osteopetrosis is a rare hereditary bone disorder characterized by defective osteoclastic bone resorption, leading to dense but brittle bones. These structural abnormalities predispose patients to fractures and complicate orthopedic surgeries due to obliterated medullary canals and increased cortical density. Subtrochanteric femoral fractures in such patients are rare and challenging, with limited consensus on optimal surgical management.
We present a 45-year-old male with adult-onset autosomal dominant osteopetrosis who sustained bilateral subtrochanteric femoral fractures-first on the right side, then on the left two years later. Both fractures were managed with intramedullary nailing (IMN). The procedures were technically demanding due to the sclerotic bone and canal obliteration, requiring sequential drilling and reaming with irrigation to prevent thermal necrosis. Both fractures healed without complications, with radiographic union at 9 months and early mobilization.
IMN in osteopetrotic bone is technically difficult but feasible with meticulous planning and technique. Reported complications include drill bit breakage, thermal injury, delayed union, and hardware failure. Compared to extramedullary fixation, IMN offers better mechanical stability in weight-bearing regions. Our experience aligns with other reports suggesting IMN is a viable approach when performed with necessary precautions. The lack of standardized protocols necessitates individualized planning based on anatomical and clinical considerations.
This case highlights the successful application of IMN for subtrochanteric fractures in adult osteopetrosis, emphasizing the importance of surgical expertise. Further studies are needed to guide standardized management in this rare condition.
骨质石化症是一种罕见的遗传性骨病,其特征为破骨细胞性骨吸收缺陷,导致骨骼致密但脆弱。这些结构异常使患者易发生骨折,并且由于髓腔闭塞和皮质密度增加,给骨科手术带来困难。此类患者的股骨转子下骨折罕见且具有挑战性,对于最佳手术治疗方案的共识有限。
我们报告一名45岁成年男性,患常染色体显性遗传性成人骨质石化症,双侧股骨转子下骨折——右侧先发生骨折,两年后左侧发生骨折。两处骨折均采用髓内钉固定(IMN)治疗。由于骨质硬化和髓腔闭塞,手术操作技术要求高,需要依次钻孔、扩髓并冲洗以防止热坏死。两处骨折均愈合且无并发症,9个月时影像学显示骨折愈合,并可早期活动。
在骨质石化症患者中使用髓内钉固定技术上具有挑战性,但通过精心规划和技术操作是可行的。报道的并发症包括钻头断裂、热损伤、延迟愈合和内固定失败。与髓外固定相比,髓内钉在负重区域提供更好的机械稳定性。我们的经验与其他报告一致,表明在采取必要预防措施的情况下,髓内钉固定是一种可行的方法。由于缺乏标准化方案,需要根据解剖和临床考虑进行个体化规划。
本病例突出了髓内钉固定在成人骨质石化症股骨转子下骨折中的成功应用,强调了手术专业知识的重要性。需要进一步研究以指导这种罕见疾病的标准化治疗。