Incidence, Prevalence, and Clinical Presentation of Cerebral Cavernous Malformations

Kelly D Flemming1

  • 1Department of Neurology, Mayo Clinic, Rochester, MN, USA. Flemming.kelly@mayo.edu.

Insights

Cavernous malformations are more common than previously thought, often found incidentally with MRI. Some may present with hemorrhage, seizure, or neurological deficits, with factors like location and vitamin D potentially influencing symptoms.

Area of Science:

  • Neurology
  • Neuroimaging
  • Vascular Neurology

Background:

  • Cavernous malformations (CMs) were historically diagnosed late, often after severe events.
  • The widespread use of Magnetic Resonance Imaging (MRI) has increased incidental detection of CMs.
  • Understanding CM presentation is crucial for patient care and research.

Purpose of the Study:

  • To review the incidence, prevalence, and presentation of cavernous malformations.
  • To highlight the impact of MRI on CM diagnosis.
  • To discuss factors potentially influencing symptomatic presentation.

Main Methods:

  • Literature review and synthesis of existing data on cavernous malformations.
  • Analysis of diagnostic trends before and after the widespread adoption of MRI.
  • Examination of clinical presentations and potential contributing factors.

Main Results:

  • Cavernous malformations are more prevalent than previously recognized, with many identified incidentally via MRI.
  • Symptomatic presentations include intracerebral hemorrhage, seizures, and focal neurological deficits.
  • Brainstem location, estrogen use, and low vitamin D levels are suggested factors in hemorrhagic presentation.

Conclusions:

  • Increased MRI use has shifted CM diagnosis towards incidental findings.
  • While many CMs remain asymptomatic, specific factors may increase the risk of symptomatic events.
  • Further research is needed to clarify the precise mechanisms driving CM symptomatology and hemorrhage risk.