Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and Chiari malformation Type I in patients with hereditary disorders of connective tissue
Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and Chiari malformation Type I in patients with hereditary disorders of connective tissue
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DOI：
10.3171/spi-07/12/601
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发表时间：
2007-12-01
影响因子：
2.8
通讯作者：
Francomano, Clair A.
中科院分区：
文献类型：
--
作者：
Milhorat, Thomas H.;Bolognese, Paolo A.;Francomano, Clair A.
目的。 I 型 Chiari 畸形 (CM-I) 通常被认为是轴旁中胚层的疾病。作者报告了 CM-I 与遗传性结缔组织疾病 (HDCT) 之间的关联，这种疾病可能会因枕寰枢椎过度活动和颅骨沉降而出现下脑干症状。方法。 HDCT 的患病率是在 2813 名 CM-I 患者的前瞻性队列中确定的。所有患者都接受了详细的医学和神经放射学检查，包括关节活动度评估。使用重建 3D 计算机断层扫描和平片 X 射线图像对 114 例 HDCT/CM-I 患者的颅颈交界处骨结构进行形态测量研究，并将结果与 CM-I 患者（55 例）和健康对照个体（55 例）获得的结果进行比较。结果。 2813例中，有357例（12.7%）符合Ehlers-Danlos综合征和相关HDCT的诊断标准。遗传性通常与具有可变表达性的常染色体显性遗传模式兼容。 HDCT/CM-I 的诊断特征与 CM-I 的区别在于结缔组织病的临床特征、女性比例更高（8:1 与 3:1 相比，p < 0.001）、下脑干症状发生率更高（0.41 与 0.11 相比，p < 0.001）、齿状血管翳形成（0.71 与 0.11 相比，p < 0.001）。 0.001）和口咽发育不全（0.44 与 0.02 相比，p < 0.001）。健康对照者和 CM-1 患者在仰卧位和直立位时，基部 - 齿状突间距、基部 - 寰椎间距、寰椎 - 齿状突间距、齿状突 - 寰椎间距、斜坡角、斜坡轴角和寰椎轴角的测量结果相同。在 HDCT/CM-1 患者中，基底-齿状点间隔缩短（3.6 毫米，p < 0.001），基底-寰椎间隔增大（3.0 毫米，p < 0.001），斜坡轴角减小（10.8 度，p < 0.001），斜坡-寰椎角减小（5.8 度，p < 0.001）。 0.001），以及假设直立位置时寰椎轴角度（5.3 度，p < 0.001）。这些变化可以通过颈椎牵引或恢复仰卧位来减轻。结论。对 357 名 CM-I 患者进行 HDCT 鉴定，确定了两种可能不相关的中胚层疾病之间的关联。该队列中的形态测量证据——颅骨沉降、枕骨髁向后滑动以及直立位时斜坡轴角、斜坡-寰椎角和寰椎-轴角的减小——表明枕寰关节和寰枢关节的过度活动有助于齿状突后血管翳的形成和与基底印迹相关的症状。
Object. Chiari malformation Type I (CM-I) is generally regarded as a disorder of the paraxial mesoderm. The authors report an association between CM-I and hereditary disorders of connective tissue (HDCT) that can present with lower brainstem symptoms attributable to occipitoatlantoaxial hypermobility and cranial settling.Methods. The prevalence of HDCT was determined in a prospectively accrued cohort of 2813 patients with CM-I. All patients underwent a detailed medical and neuroradiological workup that included an assessment of articular mobility. Osseous structures composing the craniocervical junction were investigated morphometrically using reconstructed 3D computed tomography and plain x-ray images in 114 patients with HDCT/CM-I, and the results were compared with those obtained in patients with CM-I (55 cases) and healthy control individuals (55 cases).Results. The diagnostic criteria for Ehlers-Danlos syndrome and related HDCT were met in 357 (12.7%) of the 2813 cases. Hereditability was generally compatible with a pattern of autosomal dominant transmission with variable expressivity. The diagnostic features of HDCT/CM-I were distinguished from those of CM-I by clinical stigmata of connective tissue disease, a greater female preponderance (8:1 compared with 3: 1, p < 0.001), and a greater incidence of lower brainstem symptoms (0.41 compared with 0.11, p < 0.001), retroodontoid pannus formation (0.71 compared with 0.11, p < 0.001), and hypoplasia of the oropharynx (0.44 compared with 0.02, p < 0.001). Measurements of the basion-dens interval, basion-atlas interval, atlas-dens interval, dens-atlas interval, clivusatlas angle, clivus-axis angle, and atlas-axis angle were the same in the supine and upright positions in healthy control individuals and patients with CM-1. In patients with HDCT/CM-1, there was a reduction of the basion-dens interval (3.6 mm, p < 0.001), an enlargement of the basion-atlas interval (3.0 mm, p < 0.001), and a reduction of the clivus-axis angle (10.8 degrees, p < 0.001), clivus-atlas angle (5.8 degrees, p < 0.001), and atlas-axis angle (5.3 degrees, p < 0.001) on assumption of the upright position. These changes were reducible by cervical traction or returning to the supine position.Conclusions. The identification of HDCT in 357 patients with CM-I establishes an association between two presumably unrelated mesodermal disorders. Morphometric evidence in this cohort-cranial settling, posterior gliding of the occipital condyles, and reduction of the clivus-axis angle, clivus-atlas angle, and atlas-axis angle in the upright position-suggests that hypermobility of the occipitoatlantal and atlantoaxial joints contributes to retroodontoid pannus formation and symptoms referable to basilar impression.