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Cerebral Cavernous Malformation: What a Practicing Clinician Should Know
Kelly D Flemming1, Giuseppe Lanzino2
1Department of Neurology, Mayo Clinic, Rochester, MN.
Mayo Clinic Proceedings
|July 2, 2020
Summary
Cavernous malformations (CMs) are brain vascular defects. Understanding their epidemiology, presentation, and management, including potential drug targets, is crucial for patient care and reducing bleeding risks.
Area of Science:
- Neurology
- Vascular Biology
- Medical Genetics
Background:
- Cavernous malformations (CMs) are rare, low-flow vascular anomalies in the central nervous system.
- They are characterized by abnormal, leaky endothelium and can be sporadic or familial.
- Lesions may arise after radiotherapy and present with diverse neurological symptoms.
Purpose of the Study:
- To provide a comprehensive overview of cavernous malformations.
- To discuss the epidemiology, clinical presentation, and management strategies.
- To highlight current research and potential therapeutic targets.
Main Methods:
- Review of existing literature on cavernous malformations.
- Analysis of epidemiological data and natural history.
- Discussion of diagnostic and therapeutic approaches.
Main Results:
- CMs have both sporadic (80%) and familial (20%) forms.
- Clinical presentation ranges from incidental findings to seizures and hemorrhage.
- Management involves comparing natural history risks with surgical intervention risks.
Conclusions:
- Effective management requires understanding CM natural history and treatment risks.
- Medical management is indicated for symptomatic cases.
- Ongoing research into genetic pathways may yield new drug targets for CMs.
