Total shoulder arthroplasty in a patient with osteopetrosis: A case report

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.