Advanced imaging of the cervical spine and spinal cord in 22q11.2 deletion syndrome: age-matched, double-cohort, controlled study

Purpose  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. Methods  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. Results  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. Conclusions  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.