Upper Cervical Fusion in Children With Spondyloepiphyseal Dysplasia Congenita

Background: Paraplegia or death secondary to upper cervical spine instability and spinal cord compression are known consequences of spondyloepiphyseal dysplasia congenita (SEDC). Stabilization and occasionally decompression of the upper cervical spine are indicated to treat upper cervical instability and stenosis. The purpose of this study was to report the results of upper cervical spine fusion in children with SEDC who had upper cervical instability. Methods: Twenty children (17 females and 3 males) with SEDC who underwent upper cervical spine fusion at a mean age of 72 months were retrospectively analyzed. Three of these children were under the age of 2. Fifteen children had posterior instrumentation and fusion whereas 5 children had posterior in situ fusion without use of any implant. Thirteen of 20 children had iliac crest autograft. Radiographic and clinical results were reported. Results: The average follow-up period was 8 years and 8 months. All children with instrumentation achieved fusion. Three of 5 children who had no instrumentation had nonunion (1 child had a stable nonunion and did not need revision; 1 had a single noninstrumented revision and ended up with a stable nonunion without further intervention; and the third one had a noninstrumented revision and had to have a second, instrumented, revision to achieve fusion). Six children had thoracolumbar scoliosis or kyphoscoliosis which required surgical management. No postoperative neurological deficits were observed. Two of the 3 children with a preoperative neurological deficit showed full recovery and the third one remained unchanged. Pseudarthrosis is the main complication for the noninstrumented group. Distal junctional instability after successful fusion is seen at long-term follow-up (average= 6 y) for 13% of patients in instrumented group. Conclusions: Instrumentation and iliac bone grafting results in 100% upper cervical fusion for SEDC children who demonstrated instability before surgery.