Cervical spine in diastrophic dysplasia: an MRI analysis

In this cross-sectional study, we evaluated the cervical spine in patients with diastrophic dysplasia (DD) by using magnetic resonance imaging (MRI). From 90 (57 female, 33 male) patients of different ages (0.3-56.0 years), T1- and T2-weighted images were obtained. The craniocervical junction and status of the medulla were examined, and the transverse areas of dural tube and medulla were measured. Alignment of the cervical spine, vertebral abnormalities, and disc changes also were evaluated. The cervical spinal canal was moderately narrowed, particularly in adults. The transverse areas of the medulla and especially of the dural tube were smaller compared with a normal population (p < 0.0001). There was no stenosis of the foramen magnum in patients with DD, but the spinal canal was narrowed. Degenerative changes were common. In all age groups, intervertebral discs were dark and disc heights were narrowed. Three (3%) patients (two children, one adult) had cervical kyphosis. Compression of the medulla was noted in association with severe cervical kyphosis in one child and one adult. Typical findings of the cervical spine in DD were exceptionally wide foramen magnum, narrowed spinal canal and early degenerative changes, and in older age groups, especially midcervically narrowed spinal canal. Severe cervical kyphosis caused medullar compression. The intervertebral discs developed abnormally. Abnormal disc structure may be one etiologic factor in the development of cervical kyphosis. Early and rapid progression of the degenerative changes is a normal finding in patients with DD, regardless of their age, and this also explains the stiffness of the cervical spine in clinical examination.