Abstract：
The aim of this report is to describe the management of a severe spinal deformity in an adolescent with facioscapulohumeral dystrophy (FSHD) and review the available literature on the topic.
A 14-year-old patient with a genetically confirmed diagnosis of FSHD was evaluated for right thoracolumbar scoliosis (TL) and severe lumbar hyperlordosis. Spinal radiographs showed a right-sided curve of 32° and in the sagittal plane a lordotic curve T10-S1 -143°, TL junction -51.6°, LL -115°, pelvic incidence (PI) 25.5°, pelvic tilt 63.3°, PI-LL mismatch -90°, and a sagittal imbalance of -146 mm. An MRI scan evidenced atrophy of the paraspinal muscles. An instrumental gait analysis revealed significant pelvic anteversion associated with hip flexion and mild equinus. During follow-up, the patient developed a progressive inability to walk and difficulty sitting along with respiratory compromise and pain.
At the age of 16 years, a posterior T2-iliac spinal fusion was performed using pedicle screws and four iliac anchors, with a 4-rod system placed at the lumbopelvic level. Significant correction of the hyperlordosis, the PI-LL mismatch, and sagittal imbalance was achieved, and the patient improved her sitting capacity, quality of life (QoL) and self-esteem and reported a decreased perception of disability at 2-year follow-up.
This is the first published case of spinal deformity secondary to FSHD to use gait analysis to supplement the decision of optimal timing for surgery, and the second published case of spine surgery in a pediatric patient. Although spinal fusion surgery is controversial in ambulatory FSHD patients with extensive deformity, when ambulation is impaired, surgery improves function, prevents progression, and restores sagittal balance, increasing patient\'s QoL.
A 14-year-old patient with a genetically confirmed diagnosis of FSHD was evaluated for right thoracolumbar scoliosis (TL) and severe lumbar hyperlordosis. Spinal radiographs showed a right-sided curve of 32° and in the sagittal plane a lordotic curve T10-S1 -143°, TL junction -51.6°, LL -115°, pelvic incidence (PI) 25.5°, pelvic tilt 63.3°, PI-LL mismatch -90°, and a sagittal imbalance of -146 mm. An MRI scan evidenced atrophy of the paraspinal muscles. An instrumental gait analysis revealed significant pelvic anteversion associated with hip flexion and mild equinus. During follow-up, the patient developed a progressive inability to walk and difficulty sitting along with respiratory compromise and pain.
At the age of 16 years, a posterior T2-iliac spinal fusion was performed using pedicle screws and four iliac anchors, with a 4-rod system placed at the lumbopelvic level. Significant correction of the hyperlordosis, the PI-LL mismatch, and sagittal imbalance was achieved, and the patient improved her sitting capacity, quality of life (QoL) and self-esteem and reported a decreased perception of disability at 2-year follow-up.
This is the first published case of spinal deformity secondary to FSHD to use gait analysis to supplement the decision of optimal timing for surgery, and the second published case of spine surgery in a pediatric patient. Although spinal fusion surgery is controversial in ambulatory FSHD patients with extensive deformity, when ambulation is impaired, surgery improves function, prevents progression, and restores sagittal balance, increasing patient\'s QoL.
摘要：
目的：本报告的目的是描述患有面肩肱骨营养不良（FSHD）的青少年严重脊柱畸形的治疗方法，并回顾有关该主题的现有文献。
方法：对一名14岁经基因证实诊断为FSHD的患者进行右胸腰椎侧凸（TL）和严重腰椎过度前凸评估。脊柱X线照片显示右侧曲线为32°，矢状面为脊柱前凸曲线T10-S1-143°，TL接点-51.6°,LL-115°,骨盆发生率（PI）25.5°，骨盆倾斜63.3°,PI-LL不匹配-90°,矢状不平衡-146毫米。MRI扫描显示椎旁肌肉萎缩。工具步态分析显示，与髋关节屈曲和轻度马蹄有关的骨盆前倾明显。随访期间,患者逐渐无法行走，难以坐下，并伴有呼吸受损和疼痛。
结果：16岁时，使用椎弓根螺钉和四个髂锚钉进行后T2-髂脊柱融合术，将4杆系统放置在腰椎水平。过度前凸的显著矫正，PI-LL不匹配，达到矢状失衡，病人改善了她的坐姿能力，生活质量（QoL）和自尊，并报告在2年随访时残疾感知下降。
结论：这是第一例发表的继发于FSHD的脊柱畸形病例，使用步态分析来补充最佳手术时机的决定，以及第二例儿科患者的脊柱手术。尽管脊柱融合术在患有广泛畸形的非卧床FSHD患者中存在争议，当步行受损时，手术改善功能，阻止进展,恢复矢状平衡,增加患者的生活质量。
方法：对一名14岁经基因证实诊断为FSHD的患者进行右胸腰椎侧凸（TL）和严重腰椎过度前凸评估。脊柱X线照片显示右侧曲线为32°，矢状面为脊柱前凸曲线T10-S1-143°，TL接点-51.6°,LL-115°,骨盆发生率（PI）25.5°，骨盆倾斜63.3°,PI-LL不匹配-90°,矢状不平衡-146毫米。MRI扫描显示椎旁肌肉萎缩。工具步态分析显示，与髋关节屈曲和轻度马蹄有关的骨盆前倾明显。随访期间,患者逐渐无法行走，难以坐下，并伴有呼吸受损和疼痛。
结果：16岁时，使用椎弓根螺钉和四个髂锚钉进行后T2-髂脊柱融合术，将4杆系统放置在腰椎水平。过度前凸的显著矫正，PI-LL不匹配，达到矢状失衡，病人改善了她的坐姿能力，生活质量（QoL）和自尊，并报告在2年随访时残疾感知下降。
结论：这是第一例发表的继发于FSHD的脊柱畸形病例，使用步态分析来补充最佳手术时机的决定，以及第二例儿科患者的脊柱手术。尽管脊柱融合术在患有广泛畸形的非卧床FSHD患者中存在争议，当步行受损时，手术改善功能，阻止进展,恢复矢状平衡,增加患者的生活质量。
