Surgical treatment of atlantoaxial dysplasia and scoliosis in spondyloepiphyseal dysplasia congenita: A case report.

IF 2 Q2 ORTHOPEDICS
Yang Jiao, Jun-Duo Zhao, Xu-An Huang, Hao-Yu Cai, Jian-Xiong Shen
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Abstract

Background: Spondyloepiphyseal dysplasia congenita (SEDC) is a rare autosomal dominant hereditary disease caused by COL2A1 mutations. SEDC primarily involves the skeletal system, with typical clinical manifestations, including short stature, hip dysplasia, and spinal deformity. Due to the low incidence of SEDC, there are only a few case reports regarding the surgical treatment of SEDC complicated with spinal deformities.

Case summary: We report a case of a 16-year-old male patient with SEDC. He presented with typical short stature, atlantoaxial dysplasia, scoliosis, and hip dysplasia. Cervical magnetic resonance imaging showed spinal canal stenosis at the atlas level and cervical spinal cord compression with myelopathy. The scoliosis was a right thoracic curve with a Cobb angle of 65°. He underwent atlantoaxial reduction, decompression, and internal fixation from C1-C2 to relieve cervical myelopathy. Three months after cervical surgery, posterior correction surgery for scoliosis was performed from T3 to L4. Scoliosis was corrected from 66° to 8° and remained stable at 2-year follow-up.

Conclusion: This is the first case report of a patient with SEDC who successfully underwent surgery for atlantoaxial dysplasia and scoliosis. The study provides an important reference for the surgical treatment of SEDC complicated with spinal deformities.

先天性脊柱骺发育不良患者寰枢椎发育不良和脊柱侧弯的手术治疗:病例报告。
背景:先天性脊柱骺发育不良(SEDC)是一种罕见的常染色体显性遗传病,由 COL2A1 基因突变引起。SEDC 主要累及骨骼系统,典型的临床表现包括身材矮小、髋关节发育不良和脊柱畸形。由于 SEDC 的发病率较低,关于 SEDC 并发脊柱畸形的手术治疗仅有少数病例报道。病例摘要:我们报告了一例 16 岁的男性 SEDC 患者,他有典型的身材矮小、寰枢关节发育不良、脊柱侧弯和髋关节发育不良。颈椎磁共振成像显示寰椎水平椎管狭窄,颈脊髓受压并伴有脊髓病变。脊柱侧弯为右胸椎弯曲,Cobb角为65°。他接受了寰枢椎缩小术、减压术和C1-C2内固定术,以缓解颈椎脊髓病。颈椎手术三个月后,他接受了从 T3 到 L4 的脊柱侧弯后路矫正手术。脊柱侧弯从66°矫正到8°,并在2年的随访中保持稳定:这是首例成功接受寰枢椎发育不良和脊柱侧弯手术的 SEDC 患者的病例报告。该研究为SEDC并发脊柱畸形的手术治疗提供了重要参考。
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CiteScore
3.10
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