Familial multiple cavernous malformation syndrome

Discussion:

Cerebral cavernous malformations (CCM) may occur as a sporadic form or as a familial form, which is far less common. In familial multiple cavernous malformation syndrome, also known as familial cerebral cavernous malformation (FCCM), an autosomal dominant pathology, there are multiple CCM (five or more) or the presence of CCM in at least two members of a family or the mutations in one of the three genes causing this disease.

GRE or SWI sequences promote intensification of the magnetic susceptibility effect (i.e. blooming effect), resulting in in the visual impression of increased lesion volume.

The differential diagnosis for multiple punctuate foci of susceptibility is as follows:

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