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.  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.   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. 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.    http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&term=cavernous+malformation+AND+human[mh]+AND+english[la]&db=PubMed&orig_db=PubMed&filters=on&pmfilter_EDatLimit=5+Years 1 http://clinicaltrials.gov/ct2/results?term= /disorders/cavernous_malformation/pubs_cavernous_malformation.htm /disorders/cavernous_malformation/xml_cavernous_malformation.xml xml_cavernous_malformation.xml CavernomasCavernous AngiomaCongenital Vascular Cavernous MalformationsFamilial HemangiomaNevus CavernosusVascular Erectile TumorCavernous Malformation V91 National Organization for Rare Disorders (NORD)

55 Kenosia Avenue

Danbury CT 06810 orphan@rarediseases.org http://www.rarediseases.org 203-744-0100 Voice Mail 800-999-NORD (6673) 203-798-2291 Federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. Committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service. V849 Angioma Alliance

520 W. 21st Street

Suite G2-411 Norfolk VA 23517-1950 info@angiomaalliance.org http://www.angiomaalliance.org 866-HEAL-CCM (432-5226) 757-623-0615 Non-profit charitable organization created by people affected by cavernous angiomas. Provides education and support and promotes research. V940 Nevus Outreach, Inc

600 SE Delaware Ave

Suite 200 Bartlesville OK 74 cschoessow@nevus.org http://www.nevus.org 877-426-3887 918-331-0595 281-417-4020 Nevus Outreach is dedicated to: improving awareness and providing support for people affected by congenital pigmented nevi, and finding a cure.