A cavernous malformation is a group of abnormal, small blood vessels and larger, stretched out blood vessels that are filled with blood. This is located in the brain. These malformations of blood vessels can happen in the spinal cord, the dura, or on skull nerves. Cavernous malformations can be from ¼ an inch to multiple inches.
There is no known cause of cavernous malformations. Around 20% of people with this condition have it inherited genetically. Genetic mutations that can lead to this condition includes KRIT1, CCM2, PDCD10.
A patient with these malformations may not experience symptoms. The symptoms are typically related to the location and the strength of the malformation walls. Neurological deficits are usually present and depend on the location of the malformation. As the cavernous malformation changes in size because of bleeding or reabsorbing blood, symptoms can change. Some symptoms include:
- Arm or leg weakness
- Vision issues
- Balance issues
- Memory and attention issues
Random and intense headaches as well as seizures, random arm and leg weakness, vision issues, balance problems, and memory issues are signs that you should seek medical care.
TESTING AND DIAGNOSIS
Cavernous malformations cannot be seen on an angiogram because the blood flow is very slow. An MRI with and without contrast and with gradient echo sequences is one of the best tests to diagnose a cavernous malformation. These tests may need to be repeated as the malformation changes.
Every year an MRI scan should be done and then after two years, a scan every five years should be done. An MRI should be done if there are new symptoms or if a hemorrhage may have happened. Sometimes anticonvulsant medications may be used. This can be monitored radiographically because the result of a hemorrhage of these lesions are less risky than a classic AVM or aneurysm.
Surgery may be considered to control seizures if nonsurgical treatments have not worked, if the cavernous malformation is a low risk brain area, and if the lesion is the definite cause of seizures. Seizure control should not be the only reason for surgery but should be done to prevent future issues and bleeding.
If a patient has had at least one neurological symptomatic hemorrhage from a lesion in a low risk area then a surgery may be recommended. It is important to compare the risk of future bleeding to a second hemorrhage.
Neurological deficits can often get worse after surgery. Brain and spine surgery has many risks but a hemorrhage into the nervous tissue also has many risks. The risks should be compared based on the patient’s case.