Cavernoma
What is Cavernoma?
A cavernous malformation, or cavernoma, is a group of abnormal blood vessels in the brain or spinal cord. These blood vessels are fragile and can leak small amounts of blood over time. Some people never have symptoms, while others may experience headaches, seizures, or weakness, especially if the malformation bleeds. Cavernous malformations can develop randomly or be passed down from a parent. When cavernomas happen randomly, they usually appear as a single lesion and may be located near an abnormal vein. Inherited cases often involve more than one lesion and are caused by changes in certain genes.
When Witten fell ill with worsening symptoms, his local medical team suspected a tumor, but further tests revealed a tangled mass of abnormal blood vessels in Witten’s medulla — a cavernoma. Read his story here »
Doctors don’t fully understand what causes cavernomas to form, but they may be related to abnormalities in blood vessel development or in the integrity of the thin layer of cells that line the inside of blood vessels. Cavernomas may grow over time, and the chance of bleeding is higher if there has already been bleeding before.
Symptoms of Cavernoma
Symptoms depend on the size, number, and location of the lesion. Many people with cavernomas experience no symptoms and are diagnosed incidentally during brain imaging for unrelated reasons. When symptoms do occur, they commonly include seizures, headaches, and focal neurological deficits, such as weakness or numbness, vision or speech disturbances, or balance problems.
In some cases, a cavernoma may leak blood slowly over time or cause an acute hemorrhage, leading to sudden neurological deterioration. Repeated bleeding can result in cumulative damage to surrounding brain tissue. Lesions located in the brainstem or spinal cord are more likely to produce significant symptoms even with small bleeds.
Diagnosis of Cavernoma
Cavernomas are most accurately diagnosed with an MRI to detect both the appearance of the lesion and any evidence of previous bleeding. When multiple lesions are present or a family history is suspected, genetic testing may be recommended.
What are the Treatment Options for a Cavernoma?
Management of a cavernoma depends on the presence and severity of symptoms, the lesion’s location, and the patient’s overall neurological condition. For individuals with asymptomatic lesions or minor symptoms, a conservative approach with observation and routine follow-up imaging may be appropriate.
For patients with epilepsy caused by a cavernoma, seizure control with antiepileptic drugs is the first line of treatment. If seizures remain refractory, surgical evaluation may be warranted. Genetic counseling is recommended for individuals with familial forms of the disease.
If the cavernoma causes recurrent seizures that are difficult to control with medication, or if there is a history of hemorrhage with progressive neurological symptoms, surgical removal may be considered. Surgery to remove the cavernoma can be a cure if the lesion is in an area of the brain that’s safe to operate on. However, surgery is often avoided for deep-seated lesions where the risk of neurological damage is high.