Intramedullary Spinal Cord Cavernous Angiomas in Familial Cerebral Cavernous Malformations

Spinal cord cavernous malformations (SCCMs) are vascular malformations characterized by blood-filled cavities, often leading to neurological deficits. Familial cerebral cavernous malformation (FCCM) is a hereditary condition that predisposes individuals to develop multiple cavernous angiomas. Understanding the incidence, clinical presentation, and management strategies for spinal cavernous angiomas in the context of FCCM is crucial for improving patient outcomes.

This narrative review synthesizes existing literature on SCCMs in patients with FCCM. A comprehensive search was conducted across multiple databases, including PubMed, Scopus, and Web of Science, utilizing keywords such as "spinal cavernous angiomas" and "familial cerebral cavernomatosis". In addition, a further search was performed among papers discussing FCCM and SCCM, respectively.

In the paucity of published data about the presence of SCCMs in FCCM, the review highlights the clinical manifestations of SCCMs in both sporadic disease and FCCM, including recurrent hemorrhagic episodes and progressive neurological deficits. Although mutations in the KRIT1, CCM2, and PDCD10 genes play a significant role in the pathogenesis of FCCM, no single gene mutation has been identified as predisposing to SCCMs. Diagnosis was usually reached in patients symptomatic for spinal cord bleeding. Surgical intervention remains the primary treatment modality; however, the decision-making process is complicated by the potential for new lesion development.

SCCMs in FCCM present distinct challenges in diagnosis and management and their prevalence is probably underestimated. This review underscores the need for heightened awareness among clinicians regarding the hereditary nature of these lesions. Future research should focus on the molecular mechanisms underlying FCCM, aiming to develop targeted therapies and improve clinical outcomes for affected individuals.