Rizk Ryan C, Lugo-Fagundo Elias, Yasrab Mohammad, Weisberg Edmund M, Chu Linda C, Gross John M, Fishman Elliot K
Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Duke University School of Medicine, Durham, NC, USA.
Radiol Case Rep. 2025 Jan 4;20(3):1662-1665. doi: 10.1016/j.radcr.2024.12.040. eCollection 2025 Mar.
Osteopetrosis is a rare genetic disorder that leads to increased bone density and fragility due to dysfunctional osteoclasts, which can result in narrowed bone marrow spaces, hardened cartilage, and brittle bones. This condition frequently coexists with osteoarthritis among affected individuals. When osteoarthritis results in significant pain and impairs function, surgical interventions such as total joint arthroplasty may be recommended, although these procedures come with a unique set of surgical and recovery-related hurdles. Due to its challenging preoperative diagnosis, radiological imaging plays a fundamental role in the detection of osteopetrosis, along with the evaluation of the extent of disease. Notably, though, there is a dearth of literature on osteopetrosis in the shoulder and its preoperative and postoperative management. Here, we report a case of a 64-year-old female with osteopetrosis who presented with pain in the left shoulder and underwent a reverse total left shoulder arthroplasty. We focus on the radiological imaging features to optimize diagnosis and timely treatment intervention.
骨质石化症是一种罕见的遗传性疾病,由于破骨细胞功能失调导致骨密度增加和骨质脆弱,可致使骨髓腔变窄、软骨硬化以及骨骼变脆。在受影响个体中,这种病症常与骨关节炎并存。当骨关节炎导致严重疼痛并损害功能时,可能会建议采取诸如全关节置换术等手术干预措施,尽管这些手术会带来一系列独特的手术及与恢复相关的障碍。由于其术前诊断具有挑战性,放射影像学在骨质石化症的检测以及疾病程度评估中发挥着重要作用。然而,值得注意的是,关于肩部骨质石化症及其术前和术后管理的文献匮乏。在此,我们报告一例64岁患有骨质石化症的女性病例,该患者因左肩疼痛接受了左侧反向全肩关节置换术。我们着重探讨放射影像学特征,以优化诊断并及时进行治疗干预。