1Department of Neurosurgery, Vanderbilt University Medical Center, Nashville; and.
2Vanderbilt University, Nashville, Tennessee.
J Neurosurg Pediatr. 2023 Apr 28;32(2):163-172. doi: 10.3171/2023.3.PEDS22353. Print 2023 Aug 1.
Down syndrome (DS) affects 1 in 700 live births and approximately one-third of patients develop craniovertebral junction (CVJ) instability, diagnosed by clinical examination and radiological measures such as the atlantodens interval (ADI) and space available for the cord (SAC). Patients with symptomatic CVJ instability are at increased risk for spinal cord injury. There are no guidelines for surgical management of CVJ instability in DS, the existing literature is sparse, and there is a lack of consistent pediatric data. This systematic review aimed to synthesize practice patterns of the surgical management of CVJ stability in pediatric DS patients to facilitate future standardization of care.
Peer-reviewed studies reporting surgical management of CVJ instability in pediatric DS patients were systematically reviewed. Inclusion criteria were studies reporting primary data on patients younger than 18 years with DS, who had CVJ instability evaluation and underwent surgical treatment. Bias risk was assessed. Descriptive statistics of the independent patient data were presented. Interval variables were analyzed using the Wilcoxon rank-sum test.
Of 1056 records, 38 studies were included. Of the included patients, 169 (6%) underwent surgery. The surgical indication was symptomatic, radiologically confirmed CVJ instability in 81% of the patients, presenting with myelopathy (30%), weakness (25%), abnormal gait (24%), torticollis (15%), and neck pain (14%). A cutoff of ADI ≥ 4 mm or SAC ≤ 14 mm, cord compression, cord signal change, and anomalous bony anatomy were used in diagnosing CVJ instability. Surgical approaches focused on internal fixation with posterior occipitocervical or atlantoaxial instrumented fusion in 57% and 44% of patients, respectively. Autograft, wiring, and allograft constructs were used in 48%, 45%, and 9% of patients. Anterior cervical approaches were performed in 6% of patients. Preoperative and postoperative external orthoses were used in approximately 50% of patients. The surgical mortality rate was 3%, and the complication rate was 36%.
Assessment of CVJ instability in DS is based on radiographic and clinical factors. Surgery is recommended if symptoms are present, and the procedure type depends on patient factors, degree of instability, anomalous bony anatomy, and reduction results to relieve cord compression. Most commonly, posterior instrumented fusion is used. However, further research is required to determine the strength of evaluation methods, create standardized guidelines for evaluation and surgical treatment, and investigate the long-term results of different surgical techniques.
唐氏综合征（DS）的发病率为每 700 例活产儿中就有 1 例，约有三分之一的患者会出现颅颈交界区（CVJ）不稳定，通过临床检查和影像学测量（如寰齿间距（ADI）和脊髓可用空间（SAC））进行诊断。有症状的 CVJ 不稳定的患者脊髓损伤的风险增加。目前尚无 DS 患者 CVJ 不稳定的外科治疗指南，相关文献较少，且缺乏一致的儿科数据。本系统评价旨在综合小儿 DS 患者 CVJ 稳定性的外科治疗方法，以促进未来护理的标准化。
系统检索了报道小儿 DS 患者 CVJ 不稳定的外科治疗的同行评议研究。纳入标准为：报告了年龄小于 18 岁的 DS 患者的主要数据，这些患者进行了 CVJ 不稳定评估并接受了手术治疗。评估了偏倚风险。呈现了独立患者数据的描述性统计数据。使用 Wilcoxon 秩和检验分析了间隔变量。
在 1056 份记录中，有 38 项研究被纳入。在纳入的患者中，有 169 例（6%）接受了手术。手术指征为 81%的患者为有症状的、影像学证实的 CVJ 不稳定，表现为脊髓病（30%）、无力（25%）、异常步态（24%）、斜颈（15%）和颈部疼痛（14%）。ADI≥4mm 或 SAC≤14mm、脊髓压迫、脊髓信号改变和异常骨解剖用于诊断 CVJ 不稳定。手术方法主要为后路枕颈或寰枢椎内固定融合，分别占 57%和 44%；自体移植物、钢丝和同种异体移植物分别占 48%、45%和 9%。前路颈椎手术占 6%。约 50%的患者术前和术后使用外固定架。手术死亡率为 3%，并发症发生率为 36%。
DS 患者 CVJ 不稳定的评估基于影像学和临床因素。如果出现症状，则建议进行手术，手术类型取决于患者因素、不稳定程度、异常骨解剖结构和减压效果以缓解脊髓压迫。最常用的方法是后路器械固定融合。然而，需要进一步的研究来确定评估方法的强度，为评估和手术治疗制定标准化指南，并研究不同手术技术的长期结果。
