What is cerebral cavernous malformation?

Cerebral cavernous malformation (CCM), also known as cavernous angioma, is a rare but serious neurological condition characterized by the formation of abnormal, dilated blood vessels, called cavernous malformations, in the brain. These malformations are composed of clusters of thin-walled, fragile capillaries that allow blood to leak and accumulate in the surrounding brain tissue. CCMs can occur anywhere in the brain, but they are most commonly located in the frontal, temporal, and parietal lobes.

CCMs are typically diagnosed based on magnetic resonance imaging (MRI) scans, which can detect the presence and location of the malformations. The symptoms associated with CCMs vary depending on the location, size, and number of the malformations. Some individuals may experience mild symptoms or no symptoms at all, while others may experience more severe symptoms, such as seizures, headaches, weakness, numbness, or difficulty speaking or understanding speech.

The exact cause of CCMs is unknown, but they are thought to be caused by a combination of genetic factors and environmental triggers. Inherited mutations in specific genes, such as CCM1, CCM2, and CCM3, have been identified in some individuals with CCMs. These mutations can be passed down from parents to children, increasing the risk of developing CCMs in families with a history of the condition.

Treatment options for CCMs depend on the severity of the symptoms and the individual's overall health. In many cases, CCMs that do not cause any symptoms may not require treatment. However, surgical removal, embolization (blocking off the blood vessels supplying the malformation), and radiosurgery may be considered for CCMs that are causing symptoms or are at risk of rupturing.

The prognosis for individuals with CCMs varies depending on the location and size of the malformation(s), as well as the availability of appropriate treatment. While CCMs can cause serious complications, such as seizures, strokes, and cognitive difficulties, early diagnosis and proper management can improve outcomes and prevent long-term neurological deficits.