Table 3.

Familial Cerebral Cavernous Malformations: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
CCMs 1 MRI imaging of brain & spinal cord
  • MRI w/standard sequences (T1, T2, FLAIR) in addition to SWI
  • For initial diagnosis, contrast is helpful to distinguish from other entities.
  • Afterward, contrast is not necessary to detect hemorrhage but may be useful for preoperative planning.
Epilepsy EEG &/or video EEGTo help establish diagnosis of epilepsy or aid in seizure localization (CCM vs alternate pathologies) that may facilitate surgical epilepsy planning
Neuropsychological evalTo determine which hemisphere is language dominant & overall eligibility for surgical resection
Brain imagingTo confirm localization of epilepsy & exclude other epileptogenic foci
SCCMs Spinal imagingGradient-based sequences are most sensitive & should be used when SCCMs are suspected.
Retinal cavernous malformation Eye examWhile retinal cavernous malformations do not typically hemorrhage, baseline exam is recommended. 2
Genetic counseling By genetics professionals 3To inform affected persons & their families re nature, MOI, & implications of FCCM to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

CCM = cerebral cavernous malformation; FCCM = familial cerebral cavernous malformations; MOI = mode of inheritance; SCCM = spinal cord cavernous malformations; SWI = susceptibility-weighted imaging

1.

CCMs were previously called "angiographically occult vascular lesions" due to their relatively poor visualization on catheter angiograms. Cerebral arteriography is rarely necessary unless there is concern for an underlying arteriovenous malformation.

2.

Guidelines on the frequency of surveillance have not been established to date.

3.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Familial Cerebral Cavernous Malformations

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