Abstract：
Osteogenesis imperfecta (OI) is a heterogeneous disorder characterised by bone fragility. Herein, we report a case of OI diagnosed after subchondral insufficiency fracture (SIF) of bilateral femoral heads. A 37-year-old woman was referred to Saitama Medical University Hospital due to left hip pain without any trauma that lasted for 2 months. She was subsequently diagnosed with SIF of the left femoral head. After 3 months, she further developed SIF of the right hip without any trauma. Magnetic resonance imaging of the bilateral hips showed linear low-signal changes of the subchondral bone and bone marrow oedema of the femoral head on T2-weighted coronal and sagittal images, diagnosing of both SIFs. The bone mineral density was 0.851 g/cm2 (T-score, -1.3) at the lumbar spine, 0.578 g/cm2 (T-score, -1.9) at the right femoral neck, and 0.582 g/cm2 (T-score, -1.9) at the left femoral neck. Considering that the patient had multiple histories of fracture, blue sclera, and mild bilateral sensorineural hearing loss, she satisfied the diagnostic criteria for OI. Genetic testing revealed a mutation in COL1A1 (NM_000088.3, c.3806G>A: p. Trp1269*). After 7 months of conservative therapy, her symptoms improved. After 4 years, both hips were pain-free with no evidence of osteoarthritis progression. OI can result in insufficiency fractures due to bone fragility in adolescence and adulthood or later, and none of the cases of OI, except for the current case, were diagnosed as a result of bilateral SIF.
摘要：
成骨不全症（OI）是一种以骨骼脆性为特征的异质性疾病。在这里，我们报告了一例双侧股骨头软骨下功能不全骨折（SIF）后诊断为OI的病例。一名37岁的妇女因左髋部疼痛而被转诊到Sa玉医科大学医院，该疼痛持续了2个月，没有任何创伤。她随后被诊断为左股骨头SIF。三个月后,她在没有任何创伤的情况下进一步发展了右髋关节的SIF。在T2加权冠状和矢状图像上，双侧髋关节的磁共振成像显示软骨下骨和股骨头骨髓水肿的线性低信号变化，诊断这两个SIF。骨密度为0.851g/cm2（T评分，-1.3）在腰椎处，0.578g/cm2（T分数，-1.9）在右股骨颈处，和0.582g/cm2(T分数，-1.9）在左股骨颈处。考虑到患者有多处骨折史,蓝色巩膜,轻度双侧感音神经性听力损失,她满足OI的诊断标准。基因检测揭示了COL1A1(NM_000088.3,c.3806G>A:p.Trp1269*)中的突变。经过7个月的保守治疗，她的症状有所改善。四年后,两髋无疼痛,无骨关节炎进展的证据.OI可导致青春期和成年期或以后由于骨脆性引起的骨折不全，没有OI的案例，除了目前的情况,被诊断为双侧SIF的结果。
