Cavernous malformations (CMs) of the spinal cord are rare in the general population but have a higher incidence in autosomal dominant CNS cavernous malformation populations. Acute hemorrhage, pediatric cases, and CMs in nerve roots can be confusing. The literature is inconsistent regarding genetic cases and MRI. We present the range of imaging findings and pitfalls, based on a large genetic population. EDUCATIONAL OBJECTIVES Learn the variety of appearances of spinal cord CMs. Understand the special challenges of diagnosing these, especially in the setting of acute hemorrhage. Learn optimal techniques for imaging spinal CMs. INTRODUCTION: WHAT ARE THEY? CNS cavernous malformations (CMs) are vascular malformations comprised of sinusoidal, endothelial-lined spaces without vascular wall elements or intervening parenchyma. (Fig. 1) They are well known in the brain, but they can also occur in the spinal cord and even nerve roots. Most CMs worldwide are sporadic, with about half of sporadic CMs in the brain associated with developmental venous anomalies, but about 20% of brain CMs are the result of autosomal dominant mutations in one of 3 genes (CCM1, CCM2, and CCM3). In familial CMs, large numbers, even hundreds, may occur in the brain. In contrast to AVMs, CMs are low flow lesions that have a tendency to repeated hemorrhage and can grow. Spinal cord CMs are seen much less commonly than brain CMs, and the MRI appearance may be much less familiar to radiologists. METHODS: We reviewed MRI findings from 32 patients with cavernous malformations of the spinal cord and present representative cases of the range of findings. Our institution serves an unusually large population with autosomal dominant CCM1 with the Common Hispanic Mutation. We present selected cases from this population.
Starcevich, Juliana; Blaine Hallstron; Mary Bartlett; E Reese; and Leslie Morrison. "Imaging Appearances of Spinal Cavernous Malformations." (2016). https://digitalrepository.unm.edu/rad_pubs/7