Rella Robert T, Brandon Arcole S, Garrison Ian A, Young Patrick, McDonald Tyler C
College of Medicine, University of South Alabama College of Medicine, Mobile, USA.
Orthopedic Surgery, University of South Alabama College of Medicine, Mobile, USA.
Cureus. 2023 Apr 3;15(4):e37068. doi: 10.7759/cureus.37068. eCollection 2023 Apr.
Osteogenesis Imperfecta (OI) is a rare hereditary disorder that leads to fragile bone mineralization and is most often due to a genetic defect in type I collagen, the primary collagen subtype that comprises bone. Patients with OI suffer from a significant burden of fractures and bony deformities. It has been recognized in countries throughout the world and has a variable age and severity of presentation depending on the subtype of OI. Recognition of this disorder requires a high index of suspicion on the part of the clinician, as it can easily be mistaken for non-accidental trauma in children. The current approach to care for patients with this disorder comprises surgical care with intramedullary rod fixation, cyclic bisphosphonate therapy, and rehabilitation to maximize the patient's quality of life and function. This case report demonstrates the importance of considering OI in the differential diagnosis of a child presenting with recurrent fractures so that appropriate testing and treatment interventions can be implemented. The case presented here is that of a male patient with osteogenesis imperfecta who suffered from recurrent long bone fractures, including his femurs bilaterally. His index fracture occurred after a visit to the pediatric ER for an unrelated issue, where his mother claimed that the boy demonstrated pain in his affected leg shortly after the visit. There was a delay in his diagnosis, and the patient suffered multiple fractures before undergoing the insertion of Fassier-Duval rods bilaterally into his femurs to prevent further injury.
成骨不全症（OI）是一种罕见的遗传性疾病，会导致骨矿化脆弱，最常见的原因是I型胶原蛋白（构成骨骼的主要胶原蛋白亚型）存在基因缺陷。OI患者承受着骨折和骨骼畸形的巨大负担。它在世界各国都有发现，根据OI的亚型不同，发病年龄和严重程度也有所不同。认识这种疾病需要临床医生有高度的怀疑指数，因为它很容易被误诊为儿童的非意外创伤。目前对这种疾病患者的护理方法包括髓内棒固定手术治疗、周期性双膦酸盐治疗以及康复治疗，以最大限度地提高患者的生活质量和功能。本病例报告表明，在对反复骨折的儿童进行鉴别诊断时考虑OI的重要性，以便能够实施适当的检测和治疗干预措施。这里介绍的病例是一名患有成骨不全症的男性患者，他双侧股骨等长骨反复骨折。他的首次骨折发生在因无关问题前往儿科急诊室就诊之后，他的母亲称男孩在就诊后不久患侧腿部就出现了疼痛。他的诊断出现了延误，在双侧股骨插入法西耶 - 杜瓦尔棒以防止进一步受伤之前，患者遭受了多次骨折。
