PDF(Pubmed)
Abstract：
Neurofibromatosis is an inherited disorder that causes skin discoloration and tumors. The musculoskeletal symptoms are specific, including bone deformities, dysplasia, joint instability, and osteoporosis. We present a rare case of a young patient with neurofibromatosis and multidirectional knee instability who underwent a successful complex primary knee replacement surgery. Stress right knee radiographs showed global joint instability with permanent anterior knee dislocation, excessively hypoplastic femoral condyles and patella, joint surfaces incongruency, and hypoplastic varus tibia, with intraluminal midshaft bone bridge causing severe stenosis. The patient could not walk, had an unstable recurvatum right knee, and used a wheelchair for her professional activities. The surgery involved a fully cemented rotating-hinged total knee arthroplasty with tibial and femoral stems. After three years of follow-up, the patient remains pain-free, fully ambulatory with no walking aids, a stable knee, a full range of motion, and no signs of aseptic loosening. This case highlights the decision-making difficulties and the significant surgical challenges faced during the operation.
摘要：
神经纤维瘤病是一种导致皮肤变色和肿瘤的遗传性疾病。肌肉骨骼症状是特定的，包括骨畸形,发育不良,关节不稳定性，和骨质疏松症。我们介绍了一例罕见的年轻神经纤维瘤病和多向膝关节不稳定患者，该患者接受了成功的复杂初次膝关节置换手术。右膝应力X线片显示整体关节不稳定伴永久性膝关节前脱位，过度增生的股骨髁和髌骨，接合面不一致，和发育不良的胫骨内翻,管腔中段骨桥导致严重狭窄。病人不能走路，右膝不稳定的反曲，用轮椅参加她的专业活动.手术涉及使用胫骨和股骨柄进行完全胶结的旋转铰链全膝关节置换术。经过三年的随访,病人仍然没有痛苦，完全走动，没有助行器，稳定的膝盖,全方位的运动，也没有无菌性松动的迹象.此案例突出了决策困难和手术期间面临的重大手术挑战。
