Cerebral cavernous malformations (cavernomas): clinical features

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Cerebral cavernous malformations (cavernomas): clinical features. The mean age at diagnosis is 45 years. Fully referenced neurology checklist.

Demographic features

  • The mean age at diagnosis is 45 years
  • They affect males and females equally
  • They are rare in children but more aggressive
  • Giant cavernomas are more frequent in children

Genetic risk factors

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Acquired risk factors

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Clinical features of cranial cavernomas

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Clinical features of spinal cavernomas

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References

  1. Petersen TA, Morrison LA, Schrader RM, Hart BL. Familial versus sporadic cavernous malformations: differences in developmental venous anomaly association and lesion phenotype. Am J Neuroradiol 2010; 31:377–382.
  2. Kuroedov D, Cunha B, Pamplona J, Castillo M, Ramalho J. Cerebral cavernous malformations: typical and atypical imaging characteristics. J Neuroimaging 2022 (Online ahead of print).
  3. Horne MA, Flemming KD, Su IC, et al; Cerebral Cavernous Malformations Individual Patient Data Meta-analysis Collaborators. Clinical course of untreated cerebral cavernous malformations: a meta-analysis of individual patient data. Lancet Neurol 2015; 15:166-173.
  4. Aras Y, Dolas I, Dolen D, et al. Pediatric cerebral cavernous malformation: a single-centered experience of 23 cases. Turk Neurosurg 2023; 33:63-69.
  5. McDonald DA, Shi C, Shenkar R, et al. Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis. Hum Mol Genet 2014; 23:4357-4370.
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