Cerebral Cavernous Malformations
Patient Information
Characteristics
Background and History
This is one of several hereditary vascular disorders but is unusual because lesions can develop throughout life. It affects primarily the brain and spinal cord when blood vessels form abnormally causing symptoms when bleeding occurs.
Clinical Correlations
The so-called cavernous malformations can develop at any time and up to 25% are diagnosed in children. Older individuals have more lesions which are usually found in the brain but also in the spinal cord, eye, and skin. The majority of individuals develop symptoms between the second and 5th decades although up to 25% of individuals remain symptom-free throughout life. Symptoms depend upon the location of the bleeding lesion. Seizures, stroke-like neurologic signs, and headaches are the most common presenting symptoms. Brain hemorrhage is the most serious complication and can lead to death. Because new lesions appear throughout life, regular check-ups are necessary.
In about 5% of patients, the blood vessel malformation appears in the retina inside of the eye. It seldom needs treatment but bleeding can fill the eye in which case surgery may be necessary.
Genetics
Inheritance
Mutations in several genes are responsible for this autosomal dominant disorder. Affected parents can expect that half of their children will inherit the same disorder.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission
Diagnosis and Prognosis
A neurologist or neurosurgeon usually makes the diagnosis with the help of an MRI. The brain lesions can be surgically treated if bleeding is significant. Affected individuals should not use aspirin or non-steroidal anti-inflammatory medications or blood thinners except under the monitoring supervision of a physician.
Web Resources
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