This patient has a known multiple cavernoma mutation KRIT1.

The present case illustrates the main characteristics of familial cerebral cavernous malformation syndrome. It has been established that most cerebral cavernous malformations 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.