Cavernoma

A cavernoma, also known as cerebral cavernous malformation, is a congenital vascular abnormality in the brain or spinal cord.

It consists of an abnormal cluster of thin-walled, dilated blood vessels. These vessels can leak blood, which can lead to clot formation and irritation of surrounding tissue.

There are variations in the size of these clusters, ranging from less than a quarter of an inch (0.6 centimeters) to 3 or 4 inches (7.6 to 10.2 centimeters). Although cerebral cavernous malformations may have a hereditary component, most develop spontaneously.

What are the symptoms?

The symptoms of cavernomas can vary depending on their location and size. In some cases, cavernomas may be asymptomatic and discovered incidentally during medical studies performed by neurosurgeons for other reasons. However, when symptoms are present, they could include:

Seizures
Intense headaches
Weakness in arms or legs
Numbness
Difficulty speaking
Memory and attention problems
Difficulty maintaining balance and walking
Changes in vision, such as double vision

Each type has their specific characteristics in terms of location and associated symptoms.

How is it diagnosed?

Generally, a neurosurgeon diagnoses a cavernoma using magnetic resonance imaging (MRI) or computed tomography (CT).

These tests allow for visualizing the vascular cavities and determining the location and size of the cavernoma. In some cases, angiography can be used to obtain a more detailed image by injecting dye into the blood vessels.

What are the risk factors?

In most cases, there is no clear cause for the development of a cavernoma. Although it may occasionally have a hereditary component, it is estimated that less than 50% of cases are related to genetic factors.

Most cavernomas occur randomly without evident genetic predisposition. Genetic tests can be performed to determine if a cavernoma origin is genetic or if it has arisen spontaneously.

If a person or their partner have had the genetic type of cavernoma, there is a 50% probability of passing the condition to their conceived children. Additionally, some cases of cavernoma have been associated with radiation exposure, such as having previously received radiotherapy treatments to the brain, especially during childhood.

How to prevent cavernomas?

Since cavernomas are primarily of congenital or sporadic nature, no specific prevention measures are known. So far, research has identified three genetic variants responsible for hereditary cavernous malformations, which are associated with most familial cases of cavernous malformations:

KRIT1, also known as CCM1
CCM2
PDCD10, also known as CCM3

It is not yet fully understood how these mutations cause cerebral cavernous malformations. It is believed that these genes interact to communicate between cells and reduce blood vessel leakage.

Prevention is key; we recommend finding specialized medical attention if you suspect you have cavernomas. At BlueNetHospitals, you will have a team of highly trained and experienced neurosurgery experts in diagnosing and treating cavernomas.

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