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Cerebral Cavernous Malformation

Synonyms:  Cavernomas, Cavernous Angioma, Congenital Vascular Cavernous Malformations, Familial Hemangioma, Nevus Cavernosus, Vascular Erectile Tumor, Cavernous Malformation



What is Cerebral Cavernous Malformation ?

A cerebral cavernous malformation (CCM) is a collection of small blood vessels (capillaries) in the central nervous system (CNS) that is enlarged and irregular in structure. In CCM, the walls of the capillaries are thinner than normal, less elastic, and prone to leaking. Cavernous malformations can occur anywhere in the body, but usually only produce symptoms when they are found in the brain and spinal cord. Some people with CCM – experts estimate 25 percent -- will never experience any related medical problems. Others will have serious symptoms such as seizures (most commonly), headaches, paralysis, hearing or vision changes, and bleeding in the brain (cerebral hemorrhage). There are familial (inherited) and sporadic (occurring for no clear reason) cases of CCM. Researchers have discovered three different genes associated with CCM. Studies are currently underway to understand the relationship between the mutations of each of these genes and their corresponding symptoms.


Is there any treatment?

Seizures are usually treated with antiepileptic drugs. If seizures don't respond to medication, or there is recurring bleeding in the brain, surgical removal of the lesion(s) using microsurgical techniques is sometimes necessary.


What is the prognosis?

Some people with CCM will never know they have the disorder because they will never experience symptoms. The prognosis for CCM is variable for each individual, since the location and number of lesions determine the severity of the disorder. CCM can be fatal if it causes severe brain hemorrhages.


What research is being done?

The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes at the National Institutes of Health conduct research related to CCM in their clinics and laboratories and support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure CCM.




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