Department of Orthopaedic Surgery, Shinshu University School of Medicine, Nagano, Japan.
Department of Medical Genetics, Shinshu University School of Medicine, Nagano, Japan.
Spine (Phila Pa 1976). 2017 Dec 1;42(23):E1380-E1385. doi: 10.1097/BRS.0000000000002170.
Case report.
We report here on an 18-month-old boy with brachytelephalangic chondrodysplasia punctata (BCDP), whose atlantoaxial instability was successfully managed with occipitocervical instrumented fusion (OCF) using screw and rod instrumentations.
Recently, there have been a number of reports on BCDP with early onset of cervical myelopathy. Surgical OCF is a vital intervention to salvage affected individuals from the life-threatening morbidity. Despite recent advancement of instrumentation techniques, however, rigid OCF is technically demanding in very young children with small and fragile osseous elements. To our best knowledge, this is the first report on application of the instrumentation technique to a toddler patient with BCDP.
A 16-month-old boy with BCDP presented with tetraplegia and swallow obstacle. Hypoplasia of the odontoid process and atlantoaxial instability were present in lateral radiographs. T2-weighted magnetic resonance (MR) images revealed a high signal region in the spinal cord at the C1-2 and C7-T1 levels. Cervical computed tomography (CT) showed that the pedicles and lateral masses in the cervical spine were small and immature, but the laminae were comparatively thick.
One week before surgery, the patient was fitted with a Halo-body jacket. We performed plate-rod placement with occipital cortical screws and C2/C3 interlaminar screws, and added an autogenous bone graft using the right 8 and 9 ribs. Rigid fixation of the occipito-cervical spine was completed successfully without major complications. Postoperative halo-body jacket immobilization was continued for 3 months, after which Aspen collar was fitted. CT confirmed occipitocervical bone fusion at 6 months after surgery. Mild clinical improvements in motor power of the affected muscles and swallowing were witnessed at 1 year postoperatively.
Rigid fixation using screw, rod, and occipital plate instrumentation was successful in an 18-month-old toddler with BCDP and atlantoaxial instability. Bone fusion was achieved at postoperative 6 months.
病例报告。
我们在此报告一例 18 个月大的短指-短掌型点状软骨发育不良（BCDP）患儿，其寰枢椎不稳定通过使用螺钉和棒进行枕颈器械融合（OCF）成功得到了治疗。
最近，有许多关于早发性颈脊髓病的 BCDP 病例报告。手术 OCF 是挽救受影响个体免受危及生命的发病率的重要干预措施。然而，尽管最近器械技术有所进步，但在骨骼元素小而脆弱的非常年幼的儿童中，刚性 OCF 在技术上要求很高。据我们所知，这是首例应用器械技术治疗 BCDP 幼儿患者的报告。
一名 16 个月大的 BCDP 男孩出现四肢瘫痪和吞咽障碍。侧位 X 线片显示齿状突发育不良和寰枢椎不稳定。T2 加权磁共振（MR）图像显示 C1-2 和 C7-T1 水平的脊髓高信号区域。颈椎 CT 显示颈椎的椎弓根和侧块较小且不成熟，但椎板相对较厚。
手术前一周，患者佩戴 Halo-body 背心。我们使用枕骨皮质螺钉和 C2/C3 椎板间螺钉进行了钢板-棒放置，并使用右侧 8 号和 9 号肋骨进行了自体骨移植。成功完成了枕颈脊柱的刚性固定，没有出现重大并发症。术后继续佩戴 Halo-body 背心固定 3 个月，然后佩戴 Aspen 颈托。术后 6 个月 CT 证实枕颈骨融合。术后 1 年，观察到受影响肌肉运动功能和吞咽功能的轻度临床改善。
使用螺钉、棒和枕骨板器械进行刚性固定在 18 个月大的 BCDP 伴寰枢椎不稳定的患儿中是成功的。术后 6 个月实现了骨融合。
5 级。
