High Prevalence of Spinal Cord Cavernous Malformations in the Familial Cerebral Cavernous Malformations Type 1 Cohort

With prospective imaging to screen the spinal cord, the authors found SCCMs in 21 of 29 familial CCM1 patients, a prevalence of 72.4%. They conclude that the study demonstrates that SCCMs are indeed a common finding in patients with familial CCM and supports the idea of familial CCM syndrome as a progressive systemic disease that affects the entire central nervous system. They found an expected positive correlation of number of SCCMs with both patient age and number of intracranial CCMs. They also found a high prevalence of vertebral intraosseous vascular malformations (69%), including atypical (T1 hypointense) intraosseous vascular malformation in approximately 38% of the patients who underwent MR imaging screening. BACKGROUND AND PURPOSE: Cavernous malformations occur most often in the brain but can occur in the spinal cord. Small studies of patients with familial cerebral cavernous malformations suggested a prevalence of spinal cord cavernous malformations of 20%?42%. We aimed to review our familial cohort and prospectively estimate the prevalence of spinal cord cavernous malformations. MATERIALS AND METHODS: We initially reviewed our familial cerebral cavernous malformations cohort for spinal cord cavernous malformations and reviewed clinical spine MR imaging examinations for sequence sensitivity. We then prospectively performed research MR imaging of the spinal cord in 29 patients from the familial cohort to estimate the prevalence. RESULTS: Gradient-based sequences identified the most spinal cord cavernous malformations on clinical MR images, forming the basis for developing our screening MR imaging. Screening spinal cord MR imaging demonstrated a prevalence of 72.4%, and a positive correlation with patient age and number of cerebral cavernous malformations. CONCLUSIONS: Spinal cord cavernous malformations occur commonly in the familial cerebral cavernous malformation population. Gradient-based sequences are the most sensitive and should be used when spinal cord cavernous malformations are suspected. This study establishes the prevalence in the familial population at around 70% and supports the idea that this condition is a progressive systemic disease that affects the entire central nervous system.