Table 5. [Familial Cerebral Cavernous Malformations: Recommended Surveillance]. - GeneReviews®

System/Concern	Evaluation	Frequency
CCMs	Brain imaging	Brain MRI imaging w/standard sequences (T₁, T₂, FLAIR) & SWI is indicated in persons experiencing new neurologic symptoms. It is debatable whether routine surveillance in the absence of symptoms is helpful. ¹
Epilepsy	Neurologic & neurosurgical eval EEG Brain imaging	If seizures are under control on ASMs, annual follow up w/neurologist is recommended. If the affected person has an exacerbation of a previously quiescent seizure disorder, brain MRI, EEG, & possibly neurosurgical eval should be considered. If epilepsy is intractable despite multiple ASM trials, a neurosurgical eval should be considered.
Headaches	Neurologic eval	Per standard recommendations
Focal neurologic symptoms	Neurologic eval PT & rehab	If the affected person has a stable focal neurologic deficit, PT & rehab should be considered. For persistent lower motor neuron facial weakness or double vision, facial reanimation &/or ophthalmologic surgeries to restore function can be considered.
SCCMs	Spinal imaging	Spinal imaging should be repeated if the affected person has recurrent or worsening symptoms. Debate exists regarding routine surveillance in the absence of new symptoms. ¹

System/Concern

Evaluation

Frequency

CCMs

Brain imaging

Brain MRI imaging w/standard sequences (T₁, T₂, FLAIR) & SWI is indicated in persons experiencing new neurologic symptoms.
It is debatable whether routine surveillance in the absence of symptoms is helpful. ¹

Epilepsy

Neurologic & neurosurgical eval
EEG
Brain imaging

If seizures are under control on ASMs, annual follow up w/neurologist is recommended.
If the affected person has an exacerbation of a previously quiescent seizure disorder, brain MRI, EEG, & possibly neurosurgical eval should be considered.
If epilepsy is intractable despite multiple ASM trials, a neurosurgical eval should be considered.

Headaches

Neurologic eval

Per standard recommendations

Focal neurologic symptoms

Neurologic eval
PT & rehab

If the affected person has a stable focal neurologic deficit, PT & rehab should be considered.
For persistent lower motor neuron facial weakness or double vision, facial reanimation &/or ophthalmologic surgeries to restore function can be considered.

SCCMs

Spinal imaging

Spinal imaging should be repeated if the affected person has recurrent or worsening symptoms.
Debate exists regarding routine surveillance in the absence of new symptoms. ¹

From: Familial Cerebral Cavernous Malformations

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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