No abstract

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. ABBREVIATIONS: CM ¼ cavernous malformation; CCM ¼ cerebral cavernous malformation; SCCM ¼ spinal cord cavernous malformation; MEDIC ¼ Multi-Echo Data Image Combination C avernous malformations (CMs) are dilated capillary-type lowflow vascular malformations, which are prone to repeated hemorrhage and growth over time. [1][2][3][4][5] Cerebral cavernous malformations (CCMs) occur with a prevalence of about 0.5% in the general population. 1,2,6 About 80% of CCMs are sporadic, solitary, and often closely associated with a developmental venous anomaly, and about 20% of CCMs are familial/syndromic. 1,2 Mutations that lead to familial CCM syndrome can occur in 3 genes (CCM1 or KRIT1, CCM2, and CCM3 or PDCD10) with an autosomal dominant transmission. 2,4,[7][8][9] There is a particularly high prevalence of familial CCM syndrome (CCM1-common Hispanic mutation) in southwest North America due to a founder effect in early Hispanic settlers. 1,2,4,9 Spinal cord cavernous malformations (SCCMs) are less common than CCMs and have been considered rare, with relatively less attention in the CCM literature and most reported cases being sporadic nonfamilial SCCMs. [10][11][12][13][14][15][16][17][18][19] A 2009 report on a single Italian family with familial CCM found SCCMs in 5 of 12 patients (41.7%), 2 of which were discovered clinically and 3 of which were discovered with screening MR imaging (3 of 6 screened patients had SCCMs). 20 An additional 2017 report on 13 patients with familial CCM found upper SCCMs in 3 patients (23.1%). 21 Given thes...