Harindhanavudhi Tasma, Takahashi Takashi, Petryk Anna, Polly David W
AACE Clin Case Rep. 2020 Aug 6;6(6):e305-e310. doi: 10.4158/ACCR-2020-0222. eCollection 2020 Nov-Dec.
Dystrophic scoliosis is a serious skeletal manifestation of neurofibromatosis 1 (NF1). The condition requires surgical intervention that is frequently associated with poor outcome due to the high rate of impaired bone healing, pseudoarthrosis, and loosening of the spinal instrumentation. New therapeutic approaches are needed to improve surgical outcomes.
Clinical, laboratory, and radiographic data are presented.
A 54-year-old woman with severe NF1 related dystrophic scoliosis and 3 prior surgical interventions underwent revision of lumbar fusion with intraoperative recombinant human bone morphogenetic protein (rhBMP-2) for loosening and a fracture of the left vertical rod at the L4 pedicle screw connection. Two days after surgery, a computed tomography (CT) scan revealed a left posterior iliac periscrew fracture. Given a high risk of mechanical failure, zoledronic acid and asfotase alfa were also administered at 3 and 7 months after surgery. At 14 months after surgery, back pain improved, and a CT scan showed stable spinal fusion and a healed left posterior iliac screw fracture.
Combination therapy including asfotase alfa with rhBMP-2 and bisphosphonate resulted in solid arthrodesis after spinal surgery in NF1-related dystrophic scoliosis.
营养不良性脊柱侧凸是1型神经纤维瘤病（NF1）的严重骨骼表现。这种情况需要手术干预，但由于骨愈合受损、假关节形成和脊柱内固定松动的发生率较高，手术结果往往不佳。需要新的治疗方法来改善手术效果。
展示了临床、实验室和影像学数据。
一名54岁患有严重NF1相关营养不良性脊柱侧凸且曾接受过3次手术干预的女性，因L4椎弓根螺钉连接处左侧垂直杆松动和骨折，接受了术中使用重组人骨形态发生蛋白（rhBMP-2）的腰椎融合翻修手术。术后两天，计算机断层扫描（CT）显示左侧髂后螺钉周围骨折。鉴于机械性失败风险较高，术后3个月和7个月还给予了唑来膦酸和阿伏糖苷酶α。术后14个月，背痛改善，CT扫描显示脊柱融合稳定，左侧髂后螺钉骨折愈合。
在NF1相关营养不良性脊柱侧凸的脊柱手术后，包括阿伏糖苷酶α与rhBMP-2和双膦酸盐的联合治疗导致了牢固的关节融合。
