Cavernous Malformations

Overview

Also known as cerebral cavernous malformations when they occur in the brain, these occur when blood vessels don’t form correctly. Sometimes hereditary, cavernous malformations are abnormally formed blood vessels that have the appearance of a small mulberry in the brain or spinal cord. They may leak blood, leading to bleeding in the brain (haemorrhage) causing neurological symptoms including weakness or numbness in the face, arm or leg, unsteadiness, vision loss or double vision, and difficulties speaking or swallowing. Seizures also can occur. Repeat hemorrhages may occur soon after your initial hemorrhage (within weeks) or later after your initial hemorrhage (many months or years later), or repeat hemorrhages may never occur. The malformations happen when tiny blood vessels called capillaries group together into clusters blood vessels that may be less than 1/4 inch to 3 to 4 inches in size. They grow with extremely thin walls liable to leak easily. These are called lesions. Though cavernous malformations can form anywhere in the body, they are most likely to cause symptoms when they grow in the brain or spinal cord. Most of the time, these formations cause no problems—about 25 per cent of people carrying this disease may have no symptoms. In some people, however, the lesions can burst and bleed into the brain, causing stroke and death.About one in 100 to 200 people or about five-tenths of the world population may have cavernous malformations, which probably form before or shortly after birth. Some may come and go.Some experts believe that cavernous malformations run in families. Researchers have found genes that seem to be linked to a risk of these unusual formations. Some cases of cavernous malformations may be genetic, but others appear without a family history.Currently, cavernous malformations can’t be prevented. Researchers hope that by learning more about the genes linked to these growths, prevention could become possible. Prenatal genetic testing and counseling are options in some clinics.

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