Cerebral cavernous malformations

Cerebral Cavernous Malformations are caused by the pathological aggregation of abnormally dilated and inelastic blood capillaries (called cavernous angiomas), which can be localized throughout the cerebral parenchyma, in the spinal cord and, albeit rarely, in extracerebral sites (such as the retina). These formations, of a benign nature and having the appearance of raspberries, consist of a thin endothelium without the muscular component and with a scarcity of elastic elements.
They also occur in variable numbers and sizes, giving rise to a wide spectrum of symptoms strictly dependent on the site of onset and the pressure exerted on the brain tissue. The most frequent symptoms include migraines, visual and hearing disturbances, seizures and, as a possible serious complication, hemorrhagic stroke. But it can also happen that their presence is asymptomatic (about 25% of cases).
This condition can manifest itself in a sporadic form, in which a single aggregate is usually present, and in an autosomal dominant transmissible familial form characterized by the presence of multiple lesions.
In the latter case, the risk of cerebral hemorrhage tends to increase.
At the base of the cavernous malformations there are mutations in various genes coding for proteins involved in the intercellular endothelial junctions which, if altered, lead to abnormal entanglement of the capillaries. Furthermore, the lack of tight junctions between the cells is the cause of the leakage of blood components in the cavernous context itself.
The treatment of this pathology is delicate and complex, given the location of the lesions. Surgical removal is the favored and definitive intervention, although it poses numerous challenges.