Cavernous Malformations (Cavernomas)

In cavernous malformations (also known as cavernomas), the walls of the capillaries are thinner than normal. They are also less elastic and likely to leak. Cavernous malformations can happen anywhere in the body. They most commonly cause symptoms when they are found in the brain and spinal cord.

These clusters of blood vessels (lesions) can be less than 1/4 inch to 3 to 4 inches (0.6 cm to 10 cm) in size. 

Cavernous malformations probably form before or shortly after birth. Some may seem to appear and disappear over time on follow-up MRI scans. The majority of cavernous malformations present in this sporadic fashion without family history.

In approximately 20% of cases, the condition is caused by an inherited gene mutation in one of three genes – CCM1 (KRIT1), CCM2 (KRIT2), or CCM (PDCD10). In cases of such mutations, a parent has a 50% of passing on the genetic mutation to their child.

Symptoms of cavernous malformations depend on the location and size of the malformation. Most children with cavernous malformations do not experience any symptoms, particularly if the lesion has not bled.

Most patients have a single solitary lesion, but some patients may have multiple cavernomas, especially at times when they are associated with familial genetic conditions. 

However, depending on location of the cavernoma, possible symptoms may include:

• Headaches
• Seizures
• Changes in hearing or vision
• Weakness
• Balance problems
• Paralysis
• Trouble thinking clearly or remembering things

Doctors will ask about your child’s health history and do a physical exam. The final diagnosis is usually made based on imaging tests that show areas of blood flow. These tests could include:

• Physical examination and review of history
• A high-resolution MRI scan of the brain or spine
• An electroencephalogram
• Genetic testing and family screening in some instances

Our pediatric neurologists and neurosurgeons work together to tailor a treatment plan unique to every cavernous malformation. Fortunately, most cavernous malformations can be treated with conservative measures. A treatment plan could include:

• Medicine for symptoms, such as anti-epileptic medicines for seizures
• Surgery to remove the cavernoma, especially if it demonstrates evidence of bleeding, growth or worsening seizures despite medication
• Stereotactic radiosurgery in rare instances where symptomatic cavernomas require treatment and surgery may prove too high risk

Overall, cavernomas are rare and occur in less than 0.5% of the general population. Most of the time, these lesions cause no problems. Many people never know that they have one. But in some people, the lesions can burst and bleed into the brain. This can cause problems such as a stroke and, in rare cases, death.
Complications may include:

• Stroke (hemorrhage or bleeding type)
• Seizure
• Death

Currently, cavernous malformations cannot be prevented. Researchers hope that by learning more about the genes linked to these growths, prevention could become possible. Prenatal genetic testing and counseling are choices for the first person in a family with multiple cavernous malformations or for relatives of those with a family history.

Most children with cavernous malformations do well and stay healthy over time. Many never experience symptoms severe enough to require serial observation with regular checkups and imaging scans to monitor the lesion. Children with cavernomas live just as long as those without the condition.

• Alliance to Cure Cavernous Malformation - Because Brains Shouldn't Bleed
• International Pediatric Stroke Organization