How is the diagnosis of familial cerebral cavernous malformation (FCCM) established?
The definition of FCCM is when there is one or more of the following: multiple CCMs (five or more), or one CCM and at least one other family member with one or more CCMs or mutations in one of the genes associated with CCM.
What are the most common symptoms of patients with this disease?
The most common symptoms are seizures, focal neurological deficits, chronic headaches, and intracranial hemorrhage.
What are the best MR sequences to define the diagnosis of FCCM?
Both spin echo and gradient recall echo sequences are useful in demonstrating cavernous angiomas. However, GRE and SWI have proven to be better than spin echo images. GRE and SWI show multiple focal regions of susceptibility induced signal loss more prominent or “blooms”.
In what compartment are the lesions predominant, the infratentorial or the supratentorial compartment?
The lesions predominate in the supratentorial compartment 75% than in the infratentorial compartment (25%) ¹.
May the lesions occur in the spinal cord?
They are rare in the spinal cord ³, occasionally occurring, in about 5% ¹.
Magnetic resonance imaging (MRI) shows multiple bilateral and diffuse focal regions of susceptibility induced signal loss of variable size, well seen on gradient-echo (GRE) sequences, or even better on susceptibility-weighted imaging (SWI). The lesions range in size from a few millimeters to several centimeters in diameter. The GRE sequences result in a degree of blooming, and consequently in an overestimation of the actual size of the lesions.