Familial cerebral cavernous malformation syndrome

The present case illustrates the main characteristics of Familial Cerebral Cavernous Malformation Syndromefamilial cerebral cavernous malformation syndrome. It has been established that most CCM are sporadic or without any hereditary association and that a low percentage is secondary to specific genetic mutations: MCC1 (KRIT1), MCC2 (MGC4607), and MCC3 (PDCD10). A proportion of these patients may present symptoms depending on the location of the lesions, leading to symptoms such as headache or seizures mainly.

Neuroimaging is essential to determine the extent of the disease, follow up patients, and detect complications. It has been described in the literature recently that there is a positive correlation between the number of brain lesions and the concomitant presence of intramedullary lesions. 

The case was contributed by Dr Raquel DelCarpio, Associate Professor of Neuroradiology at McGill University.

Evidence of multiple intra-axial calcified lesions representing cavernomas, approximately 10 in each cerebral hemisphere, with a dominant lesion at the left superior frontal gyrus measuring 12 mm in the axial plane.Patchy hyperdensity on the basal aspect of the right temporal lobe, likely corresponding to hemosiderin staining.No evidence of acute/ recent/recent intracranial hemorrhagehaemorrhage.

Numerous focal hemosiderin content lesions at all locations of supra and infra tentorialinfratentorial structures. The largest noted at the left posterior frontal and anterior parietal cortex with encephalomalacic changes. No evidence of edema related to any of the lesions to suggest recent bleed.