CNS cavernous malformations (CCMs) are dilated capillary-level lesions, which have a tendency to repeated internal hemorrhage and growth and, less frequently, hemorrhage into the nearby brain. These are well known and researched in the brain. However, the same malformation can also occur in the spinal cord, also with risk of hemorrhage. Brain CCMs can be either sporadic (solitary) or genetic in origin, with autosomal dominant pattern for the latter. There is a large prevalence of genetic CCM in New Mexico due to a founder effect in the early Spanish settlers. Spinal cavernous malformations (SCMs) have been termed rare in previous literature, but previous studies have been very inconsistent in identifying familal (genetic) cases. For example, Toldo et al said, The coexistence of intracranial and spinal cavernous angiomas in familial CCM is extremely rare.' (Toldo et al, Surg Neurol 2009;71:167). However, our experience in New Mexico is different. Within a large population of familial cerebral cavernous malformations, SCMs were identified in 8% of spine MRI, and the overall prevalence is likely much higher. Multiple SCM suggest familial rather than sporadic disease, with profound implications for families, genetic counseling, and potential brain involvement. The purpose of this study was to compare MRI sequence sensitivity indetecting SCMs in a group of patients with known familial CNS cavernous malformations.'
Starcevich, Juliana; Blaine Hart; Mary Bartlett; Reed Selwyn; Leslie Morrison; and Jon Hallstrom. "MRI Sequence Sensitivity for the Detection of Spinal Cavernous Malformations." (2016). https://digitalrepository.unm.edu/rad_pubs/8