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OA北大核心

Objective To explore the clinical characteristics,therapeutic strategies and outcomes of children with neurofibromatosis type 1(NF1)complicated by severe spinal deformity.Methods A retrospec-tive 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 Diag-nosis 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 inclu-sion and exclusion criteria.We summarized the key points of diagnosis and treatment as well as prognostic char-acteristics.Results She developed multiple café-au-lait spots(≥6)since childhood,a 10 cm × 10 cm plexi-form 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 in-volves posterior osteotomy plus pedicle fixation.Resection and laminectomy are recommended for plexiform neu-rofibromas.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.