Ricchetti Eric T, Hosalkar Harish S, Gholve Purushottam A, Cameron Danielle B, Drummond Denis S
Department of Orthopedic Surgery, University of Pennsylvania School of Medicine, Philadelphia, PA, 19104, USA.
J Child Orthop. 2008 Oct;2(5):333-41. doi: 10.1007/s11832-008-0129-6. Epub 2008 Sep 11.
The 22q11.2 deletion syndrome is a common genetic syndrome with a wide spectrum of abnormalities. We have previously described multiple anomalies of the upper cervical spine in this disorder. The objective of this study was to use advanced imaging to further define the morphology of the cervical spine and spinal cord in the 22q11.2 deletion syndrome, with a comparison to age-matched controls.
A total of 32 patients with a 22q11.2 deletion underwent advanced imaging (computed tomography/magnetic resonance imaging; CT/MRI) of the cervical spine. In 27 patients, space available for the cord (SAC); the sagittal diameter of the vertebral body, spinal canal, cerebrospinal fluid (CSF), and spinal cord; and the cross sectional area of the spinal canal, CSF, and spinal cord were measured at each cervical level and compared to 29 age-matched controls. Statistical analysis was performed and potential implications were hypothesized.
In 22q11.2 patients, advanced imaging identified 40 pathologies not evident on plain radiographs with potential mechanical and/or neurological implications. These patients also had significantly smaller values (P </= 0.05) of the following parameters at one or more cervical levels, relative to age-matched controls: width of the vertebral body, spinal canal, CSF, and spinal cord; area of the spinal canal, CSF, and spinal cord. Neurologic symptoms were observed in 4/32 patients, with one patient requiring surgical intervention.
Advanced imaging of the cervical spine can detect findings not evident on plain radiographs in the 22q11.2 deletion syndrome. CT and/or MRI may be indicated when there is a high index of suspicion for clinical instability or neurologic compromise in order to rule out dynamic encroachment or impending neurologic sequelae. Spinal canal and spinal cord dimensions are reduced in these patients relative to controls with currently unknown clinical significance.
22q11.2缺失综合征是一种常见的遗传综合征，具有广泛的异常表现。我们之前已经描述过该疾病中上颈椎的多种异常情况。本研究的目的是使用先进的影像学方法进一步明确22q11.2缺失综合征患者颈椎和脊髓的形态，并与年龄匹配的对照组进行比较。
共有32例22q11.2缺失患者接受了颈椎的先进影像学检查（计算机断层扫描/磁共振成像；CT/MRI）。在27例患者中，测量了每个颈椎节段的脊髓可用空间（SAC）、椎体矢状径、椎管、脑脊液（CSF）和脊髓；以及椎管、CSF和脊髓的横截面积，并与29例年龄匹配的对照组进行比较。进行了统计分析并提出了潜在的影响假设。
在22q11.2缺失患者中，先进的影像学检查发现了40种在平片上不明显的病变，这些病变可能具有机械性和/或神经学意义。相对于年龄匹配的对照组，这些患者在一个或多个颈椎节段的以下参数值也显著较小（P≤0.05）：椎体宽度、椎管、CSF和脊髓；椎管、CSF和脊髓的面积。32例患者中有4例出现神经症状，其中1例需要手术干预。
颈椎的先进影像学检查可以检测出22q11.2缺失综合征患者平片上不明显的发现。当临床怀疑有高度的不稳定或神经功能受损时，可能需要进行CT和/或MRI检查，以排除动态压迫或即将出现的神经后遗症。与对照组相比，这些患者的椎管和脊髓尺寸减小，目前其临床意义尚不清楚。
