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Cerebral cavernous malformations. Incidence and familial occurrence.
D Rigamonti1, M N Hadley, B P Drayer
1Division of Neurological Surgery, Barrow Neurological Institute, Phoenix, AZ 85013-4496.
The New England Journal of Medicine
|August 11, 1988
Summary
Cerebral cavernous malformations (CCMs) are more common than previously thought, with a significant familial occurrence, especially in Mexican-American families. Magnetic resonance imaging is the best tool for detecting these lesions.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Cerebral cavernous malformations (CCMs) are vascular malformations in the brain.
- Their prevalence and familial occurrence are not fully understood.
Purpose of the Study:
- To investigate the familial occurrence, clinical presentation, and radiographic features of CCMs.
- To evaluate the diagnostic accuracy of different imaging modalities for CCMs.
Main Methods:
- Studied 24 patients with histologically verified CCMs.
- Reviewed family histories and examined 64 relatives, establishing pedigrees.
- Utilized magnetic resonance imaging (MRI), computerized tomography (CT), and angiography for radiographic assessment.
Main Results:
- Identified a familial form of CCMs, particularly in Mexican-American families.
- MRI detected CCMs more accurately than CT or angiography, revealing multiple lesions in 11 relatives.
- Seizures were present in 11% of examined relatives, though most were asymptomatic.
Conclusions:
- CCMs are more prevalent than previously reported, with a notable familial component.
- A familial form of CCMs exists with a high incidence of multiple lesions.
- MRI is the preferred imaging technique for diagnosing and monitoring cerebral cavernous malformations.