Zhang Xin,Sui Wenyuan.Diagnosis and treatment of neurofibromatosis type 1 associated with severe spinal deformity:a literature review[J].Journal of Clinical Pediatric Surgery,2025,(04):326-330.[doi:10.3760/cma.j.cn101785-202501060-005]
Ⅰ型神经纤维瘤病伴重度脊柱侧后凸畸形的诊治及文献复习
- Title:
- Diagnosis and treatment of neurofibromatosis type 1 associated with severe spinal deformity:a literature review
- Keywords:
- Neurofibromatosis Type 1; Scoliosis and Kyphosis; Orthopedic Procedures; Laminectomy; Osteotomy; Intraoperative Complications; Postoperative Complications; Treatment Outcome
- 摘要:
- 目的 探讨Ⅰ型神经纤维瘤病伴重度脊柱侧后凸畸形的临床特征、诊疗策略及预后。方法 回顾性分析上海交通大学医学院附属新华医院收治的1例20岁女性Ⅰ型神经纤维瘤病伴脊柱侧后凸畸形患者的临床资料,结合《Ⅰ型神经纤维瘤病临床诊疗专家共识(2021版)》的诊断标准,总结其临床表现、影像学特征及分阶段手术治疗效果。同时,以“neurofibromatosis type 1 AND spinal deformity”及“Ⅰ型神经纤维瘤病和脊柱侧后凸畸形”为关键词,检索PubMed、Web of Science数据库及万方数据库、中国知网,筛选2010—2023年符合纳入排除标准的相关文献,归纳总结诊疗要点及预后特征。结果 患者为20岁女性,自幼全身散布咖啡牛奶斑(≥6处),背部有10 cm×10 cm丛状神经纤维瘤,腋窝及腹股沟区多发皮下结节。脊柱侧后凸病程11年,影像学显示Cobb角145°,伴椎体扇形变及肋骨扭曲。双下肢肌力Ⅳ级,踝阵挛阳性。经过头颅-骨盆牵引(halo-gravity traction,HGT),Cobb角为85°,实施后路经椎弓根截骨矫形术(pedicle subtraction osteotomy,PSO)与全椎弓根螺钉固定术,术后脊柱在冠状面和矢状面上保持良好平衡。随访2年,患者症状显著改善。共纳入2010—2023年公开发表的文献5篇进行分析,涉及117例伴脊柱侧后凸畸形的Ⅰ型神经纤维瘤病患者,这些患者均具有丛状神经纤维瘤。脊柱筛查间隔尚未达成共识,手术多采用后路截骨结合椎弓根固定,而丛状神经纤维瘤常采用切除和椎板切除术。前后关节融合术对营养不良性颈椎后凸畸形的矫正效果最佳。结论 Ⅰ型神经纤维瘤病伴脊柱侧后凸畸形的治疗需遵循“牵引-截骨矫形-神经功能保护”的综合策略。PSO联合全椎弓根固定能够有效矫正畸形并维持脊柱稳定性,多学科协作与术中神经电生理监测是减少并发症的关键。
- Abstract:
- Objective To explore the clinical characteristics,therapeutic strategies and outcomes of children with neurofibromatosis type 1 (NF1) complicated by severe spinal deformity.Methods A retrospective analysis was conducted for the relevant clinical data of a 20-year-old female patient with neurofibromatosis type 1 (NF1) complicated by spinal deformity.Based upon the diagnostic criteria outlined in the Clinical Diagnosis and Treatment Expert Consensus on Neurofibromatosis Type 1 (Edition 2021),the authors summarized her clinical manifestations,imaging features and the effects of staged surgery.Additionally,literature searches were performed using PubMed,Web of Science,Wanfang Database and CNKI with keywords "neurofibromatosis type 1 AND spinal deformity" for screening the relevant literature from 2010 to 2023 that fulfilled some inclusion and exclusion criteria.We summarized the key points of diagnosis and treatment as well as prognostic characteristics.Results She developed multiple café-au-lait spots (≥6) since childhood,a 10 cm×10 cm plexiform neurofibroma on her back and multiple subcutaneous nodules in axillary and groin areas.Spinal deformity had a duration of 11 years with a Cobb angle of 145°,accompanied by vertebral wedging and rib deformities.Muscle strength in both lower limbs was graded at Ⅳ with positive ankle clonus.After cranial-pelvic traction (Halo-gravity Traction,HGT),Cobb angle dropped to 85°,and posterior pedicle subtraction osteotomy (PSO) plus total pedicle screw fixation was performed.Postoperatively spine maintained good balance in both coronal and sagittal planes.During a 2-year follow-up,her symptoms had significantly improved.The literature analysis included five articles (2010-2023) involving 117 patients with NF1 and spinal deformity,all presenting with plexiform neurofibromas.There is still no consensus on the interval for spinal screening.Surgery commonly involves posterior osteotomy plus pedicle fixation.Resection and laminectomy are recommended for plexiform neurofibromas.Anterior and posterior spinal fusions are effective for correcting nutritional-related cervical kyphosis.Conclusions The treatment of NF1 complicated by spinal deformity should follow a comprehensive strategy of "traction-osteotomy-neuroprotection." PSO plus total pedicle fixation effectively may correct deformity and maintain spinal stability while multidisciplinary collaboration and intraoperative neurophysiological monitoring are crucial to reducing complications.
参考文献/References:
[1] Lee TSJ,Chopra M,Kim RH,et al.Incidence and prevalence of neurofibromatosis type 1 and 2:a systematic review and meta-analysis[J].Orphanet J Rare Dis,2023,18(1):292.DOI:10.1186/s13023-023-02911-2.
[2] Zhu BY,Zheng TT,Wang W,et al.Genotype-phenotype correlations of neurofibromatosis type 1:a cross-sectional study from a large Chinese cohort[J].J Neurol,2024,271(4):1893-1900.DOI:10.1007/s00415-023-12127-w.
[3] Toro G,Santoro C,Ambrosio D,et al.Natural history of scoliosis in children with NF1:an observation study[J].Healthcare (Basel),2021,9(7):881.DOI:10.3390/healthcare9070881.
[4] Suresh KV,Xu AL,Groves ML,et al.Spinal screening,malignancy,medical therapy,and surgical correction of deformity in pediatric patients with neurofibromatosis type 1:a systematic review[J].J Pediatr Orthop B,2022,31(6):572-582.DOI:10.1097/BPB.0000000000000961.
[5] Habeshian K,Saadeh-Haddad R,DeKlotz C.Plexiform neurofibromas in twins with neurofibromatosis type 1[J].J Am Acad Dermatol,2017,76(6,Supplement 1):AB200.DOI:10.1016/j.jaad.2017.04.779.
[6] Hu ZS,Liu Z,Qiu Y,et al.Morphological differences in the vertebrae of scoliosis secondary to neurofibromatosis type 1 with and without paraspinal neurofibromas[J].Spine (Phila Pa 1976),2016,41(7):598-602.DOI:10.1097/BRS.0000000000001455.
[7] Nguyen R,Dombi E,Akshintala S,et al.Characterization of spinal findings in children and adults with neurofibromatosis type 1 enrolled in a natural history study using magnetic resonance imaging[J].J Neurooncol,2015,121(1):209-215.DOI:10.1007/s11060-014-1629-5.
[8] 杨阳,王升儒,林莞锋,等.一期单纯后路矫形融合治疗Ⅰ型神经纤维瘤病伴营养不良型脊柱侧后凸1例报道[J].中华骨与关节外科杂志,2019,12(4):298-303.DOI:10.3969/j.issn.2095-9958.2019.04.013. Yang Y,Wang SR,Lin WF,et al.One-stage posterior-only approach for dystrophic scoliosis secondary to neurofibromatosis typeⅠ[J].Chin JBone Joint Surg,2019,12(4):298-303.DOI:10.3969/j.issn.2095-9958.2019.04.013.
[9] Tamura R.Current understanding of neurofibromatosis type 1,2,and schwannomatosis[J].Int J Mol Sci,2021,22(11):5850.DOI:10.3390/ijms22115850.
[10] 祁新禹,张学军,白云松,等.凸侧短段固定凹侧生长棒技术治疗小儿神经纤维瘤病脊柱侧弯[J].临床小儿外科杂志,2015,14(4):271-274.DOI:10.3969/j.issn.1671-6353.2015.04.005. Qi XY,Zhang XJ,Bai YS,et al.Treating scoliosis caused by neurofibromatosis with brief fixing on convex side combined with growing rod on concave side[J].DOI:10.3969/j.issn.1671-6353.2015.04.005.
[11] Mao SH,Li S,Ma YY,et al.How to rectify the convex coronal imbalance in patients with unstable dystrophic scoliosis secondary to type I neurofibromatosis:experience from a case series[J].BMC Musculoskelet Disord,2022,23(1):368.DOI:10.1186/s12891-022-05321-w.
[12] Tsirikos AI,Dhokia R,Wordie S.Rotatory dislocation of the spine in dystrophic kyphoscoliosis secondary to neurofibromatosis type 1[J].J Cent Nerv Syst Dis,2018,10:1179573518819484.DOI:10.1177/1179573518819484.
[13] Moodley M,Lopez KR.Neurofibromatosis type 1-an update[J].Semin Pediatr Neurol,2024,52:101172.DOI:10.1016/j.spen.2024.101172.
[14] Shao XX,Huang ZF,Yang JF,et al.Efficacy and safety for combination of t-EMG with O-arm assisted pedicle screw placement in neurofibromatosis type I scoliosis surgery[J].J Orthop Surg Res,2021,16(1):731.DOI:10.1186/s13018-021-02882-9.
[15] Park BJ,Hyun SJ,Wui SH,et al.Surgical outcomes and complications following all posterior approach for spinal deformity associated with neurofibromatosis type-1[J].J Korean Neurosurg Soc,2020,63(6):738-746.DOI:10.3340/jkns.2019.0218.
[16] Wang ZC,Zhang X,Li CY,et al.Safety,pharmacokinetics and efficacy of selumetinib in Chinese adult and paediatric patients with neurofibromatosis type 1 and inoperable plexiform neurofibromas:the primary analysis of a phase 1 open-label study[J].Clin Transl Med,2024,14(3):e1589.DOI:10.1002/ctm2.1589.
[17] Jackson S,Baker EH,Gross AM,et al.The MEK inhibitor selumetinib reduces spinal neurofibroma burden in patients with NF1 and plexiform neurofibromas[J].Neurooncol Adv,2020,2(1):vdaa095.DOI:10.1093/noajnl/vdaa095.
相似文献/References:
[1]肖保辉,雷霆,曾岚,等.新型U型钉半骨骺阻滞术治疗Ⅰ型神经纤维瘤病儿童胫骨前外侧成角畸形的短期临床疗效评价[J].临床小儿外科杂志,2024,23(03):258.[doi:10.3760/cma.j.cn101785-202310026-011]
Xiao Baohui,Lei Ting,Zeng Lan,et al.Evaluation of short-term clinical efficacy of a novel U-nail semi-epiphyseal block for anterolateral tibial angulation deformity in children with type Ⅰ neurofibromatosis[J].Journal of Clinical Pediatric Surgery,2024,23(04):258.[doi:10.3760/cma.j.cn101785-202310026-011]
[2]曹隽,李海艟.儿童Ⅰ型神经纤维瘤病脊柱侧弯的诊治要点[J].临床小儿外科杂志,2025,(04):301.[doi:10.3760/cma.j.cn101785-202412060-001]
Cao Jun,Li Haichong.Clinical diagnostics and interventions of children with neurofibromatosis type 1 associated scoliosis[J].Journal of Clinical Pediatric Surgery,2025,(04):301.[doi:10.3760/cma.j.cn101785-202412060-001]
[3]杨翔宇,朱光辉.Ⅰ型神经纤维瘤病及相关骨科疾病的诊断和治疗[J].临床小儿外科杂志,2025,(04):307.[doi:10.3760/cma.j.cn101785-202502047-002]
Yang Xiangyu,Zhu Guanghui.Diagnosis and treatment of neurofibromatosis type 1 and related orthopedic diseases[J].Journal of Clinical Pediatric Surgery,2025,(04):307.[doi:10.3760/cma.j.cn101785-202502047-002]
[4]李海艟,姚子明,郭若兰,等.儿童Ⅰ型神经纤维瘤病脊柱畸形的遗传学特点及手术治疗效果研究[J].临床小儿外科杂志,2025,(04):312.[doi:10.3760/cma.j.cn101785-202410023-003]
Li Haichong,Yao Ziming,Guo Ruolan,et al.Genotypes and clinical intervention of patients with neurofibromatosis type 1 associated dystrophic scoliosis[J].Journal of Clinical Pediatric Surgery,2025,(04):312.[doi:10.3760/cma.j.cn101785-202410023-003]
[5]梁明倩,李海艟,张学军,等.传统生长棒技术治疗Ⅰ型神经纤维瘤病营养不良性脊柱侧凸的临床疗效分析[J].临床小儿外科杂志,2025,(04):320.[doi:10.3760/cma.j.cn101785-202410065-004]
Liang Mingqian,Li Haichong,Zhang Xuejun,et al.Clinical analysis of traditional growing rods technique for neurofibromatosis type 1 dystrophic scoliosis[J].Journal of Clinical Pediatric Surgery,2025,(04):320.[doi:10.3760/cma.j.cn101785-202410065-004]
备注/Memo
收稿日期:2025-2-24。
基金项目:国家自然科学基金(82472389、82002918)
通讯作者:隋文渊,Email:suiwenyuan@hotmail.com