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

M C Mabray, J Starcevich, J Hallstrom, M Robinson, M Bartlett, J Nelson, A Zafar, H Kim, L Morrison, B L Hart, M C Mabray, J Starcevich, J Hallstrom, M Robinson, M Bartlett, J Nelson, A Zafar, H Kim, L Morrison, B L Hart

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.

© 2020 by American Journal of Neuroradiology.

Figures

Fig 1.
Fig 1.
Flow chart of the study.
Fig 2.
Fig 2.
Sagittal T1 TSE (A), sagittal T2 TSE (B), sagittal 3D MEDIC (C), and axial reformat of the 3D MEDIC (D), from spinal cord screening research MR imaging and corresponding SWI from brain research MR imaging done on the same day (E). On sagittal 3D MEDIC (C), arrowsdenote small SCCM. D, Axial reformat shows small CM in the right aspect of the spinal cord (arrow), corresponding to the more inferior of the 2 lesions. E, SWI of the brain shows multiple CMs which are typical of familial CCM syndrome.
Fig 3.
Fig 3.
A, Sagittal T1 TSE and sagittal T2 TSE (B), from clinical MR imaging of the thoracic spine demonstrates spinal cord hemorrhage from a SCCM. On sagittal T1 TSE (A), there are T1 hyperintense blood products tracking down the thoracic spinal cord (arrow) toward the conus medularis. On sagittal T2 TSE (B), there are mixed-signal blood products (arrow) at the site of the spinal cord cavernous malformation.

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