Familial multiple cavernous malformation syndrome
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:
familial multiple cavernous malformation syndrome (type IV) according to the Zabramski classification of cerebral cavernomas
cerebral amyloid angiopathy (probable CAA according to modified Boston criteria)
microhemorrhages of hypertensive microangiopathy
other less likely possibilities such as hemorrhagic metastasis, diffuse axonal injury, and neurocysticercosis, cannot be totally excluded
- Blooming artifact (MRI)
- Brain metastases
- Cavernous venous malformation
- Cerebral amyloid angiopathy
- Cerebral cavernous venous malformation
- Cerebral microhemorrhage
- Cerebral restricted diffusion
- Diffuse axonal injury
- Familial multiple cavernous malformation syndrome
- Hemorrhagic intracranial tumors
- Hypertensive microangiopathy
- Mesial temporal lobe
- Modified Boston criteria for cerebral amyloid angiopathy (historical)
- Neurocysticercosis
- Zabramski classification of cerebral cavernous malformations