Cerebral Cavernous Malformation - Causes, Complications, Diagnosis, and Treatment.

What Are Cerebral Cavernous Malformations?

Cerebral cavernous malformation or cavernoma is a rare type of structural defect involving the blood vessels of the brain (cerebral vascular malformation). They consist of abnormally formed blood vessels with the appearance of a small mulberry. While they can appear anywhere in the body, they usually create problems in the brain or the spinal cord. Based on its location in the brain, a cavernous cerebral malformation may bleed without any provocation and cause mild to fatal consequences such as brain damage or long-term disabilities.

What Is a Cerebral Cavernous Malformation Made Of?

It is made of dilated, thin-walled capillaries (tiny thread-like blood vessels) with a weak and thin lining inside. The size of cavernomas usually varies from two millimeters to several centimeters in diameter. Elastic fibers and smooth muscles that are normally seen in blood vessel walls are absent in the cavernoma capillaries. Because of this, blood flow through them is very slow. Lack of structural support may cause blood leakage into the surrounding tissue. Once filled with blood, these capillaries stretch out to create a cave-like tunnel known as a cavern.

What Are the Causes Leading to Cerebral Cavernous Malformation?

A familial type of cavernoma is inherited from one’s parents. There is a fifty percent chance for the parents to pass on the involved genes to their children. Additionally, there are chances one may develop more than one cerebral cavernous malformation if it is genetically inherited. Apart from that, one may also develop it without any apparent family history (sporadic occurrence).

What Are the Signs and Symptoms of a Cerebral Cavernous Malformation?

Depending on the location of the cavernous cerebral malformation, symptoms vary; one may suffer from the following:

• Bleeding in the brain (cerebral hemorrhage).

• Seizures are probably the first noticeable symptom.

• Neurologic symptoms such as:

  • Headaches.

  • Weakness on numbness in the arms or legs.

  • Dizziness.

  • Nausea and vomiting.

  • Problems with eyesight.

  • Constant ringing in the ears

  • Hearing loss.

  • Memory and attention problems.

  • Irritability and behavioral changes.

  • Trouble walking and balancing.

  • Pain and loss of sensation in the face, arms, and legs (central pain syndrome).

  • Paralysis.

What Are the Possible Complications Arising From Cerebral Cavernous Malformations?

With repeated episodes of bleeding, the area inside the brain surrounding the cavernous malformation may undergo damage. The chemicals from the blood cause brain cell death, and the individual suffers neurological problems. Depending on the area where the lesion is situated, vital functions in the body may be affected. Because of the high volume of critical areas in the brain stem, cavernomas located in it can cause worse symptoms than in most other parts of the brain.

How Is a Cerebral Cavernous Malformation Diagnosed?

The neurologic symptoms due to a cavernoma are very unspecific and vary depending on their locations. Hence, one may get confused with many other neurologic conditions. Often, an affected individual is brought to the hospital with an episode of bleeding in the brain. One should inform the doctor if there is a familial tendency to develop cavernomas. The following tests help diagnose cavernous cerebral hemangioma:

1. Imaging modalities like magnetic resonance imaging (MRIs) and computed tomography (CT) scans. In the images, cavernomas appear as nonspecific irregular masses.

2. Because of the slow and minimal blood flow in cavernous malformations, they may not be approachable in an angiography procedure.

What Are the Treatment Options for Cerebral Cavernous Malformations?

If the affected individual is brought to the hospital with bleeding from a cavernous cerebral malformation or a massive clot formation inside the brain, the doctors install an emergency care protocol to save the patient’s life. One may do the needful to relieve the pressure inside the head from the bleed so that damage to the brain is prevented, control seizures, and stabilize the patient.

Treatment options for cavernomas vary based on their locations, size, clinical symptoms, and their history of bleeding. Prediction of complications and treatment should be carefully decided by a specialist in neurology. Brainstem cavernomas are usually treated more aggressively when the neurologic function keeps declining, with and without bleeding. The following methods can be adopted:

• Prescribe medicines for pain, seizures, headaches, and other symptoms.

• Surgical removal of the cavernous cerebral malformation if the lesion is situated at a safe and accessible location in the brain. And if the procedure may not cause any injury to vital centers in the brain or spinal cord. One may opt for surgery if the seizures caused by the cavernous cerebral malformation cannot be controlled with anticonvulsant medications.

• The doctor may decide to wait and observe asymptomatic (not causing any medical problems) cerebral cavernous malformations and cavernomas at inaccessible sites. In such situations, one may compare the risk of surgery to the possible benefits and come to a suitable conclusion. They conduct periodic screening of the lesion with MRI or CT. If they notice any new symptoms or if the existing symptoms worsen, they may need treatment.

• Stereotactic radiosurgery is an alternative to surgically inaccessible lesions. Such treatment has been shown to reduce the rate of bleeding, especially after two years or more after radiosurgery.

• MRI-guided stereotactic laser interstitial thermal therapy is a type of treatment where the laser is used to heat up and shrink the cavernoma capillaries. This is also used when the lesion is present in surgically inaccessible areas of the brain.

Conclusion:

Many people do not suffer any symptoms from their cavernous cerebral malformations. Some may come across the lesion purely by accident when an MRI or CT is performed for another purpose. Doctors recommend genetic counseling to families who tend to develop cavernous cerebral malformations so that they stay aware of the chances of passing on the affected genes to the next generation. One may also ask them to avoid activities that may cause head traumas, as it increases the risk of cavernoma bleeding. Sporting activities like football may be avoided. Contact the doctor in case of symptoms like long-standing headaches, seizures, or weakness in arms and legs.