A cavernoma is a cluster of abnormal blood vessels, usually found in the brain and spinal cord. The clumps of blood vessels form a cluster of bubbles with thin walls that can leak. It can be a genetically inherited condition.
Cavernomas can cause bleeding in the blood cells (a haemorrhage). Cavernoma in the brain stem or near the brain can be life-threatening, because of the brain’s critical role in regulating breathing and heartbeat.
Symptoms can include:
- unusual sleeping problems and irritability
- family history of cavernomas
- headaches and pain
- personality changes
- problems with memory and attention
- problems with balance and vision
- weakness in arms and legs.
- Epilepsy and seizures may occur
- changes in the eyes such as unequal pupils
- changes in the performance of normal activities
- Emergency warning signs can include violent vomiting and unconsciousness.
Diagnosis and Treatment Options
- Evaluate medical history including signs and symptoms
- Medical examination
- Blood tests
- Radiology – CT or MRI scans, Angiogram
A series of non-invasive tests will be carried out to determine if a child has a cavernoma, and its size and location.
Clinical blood testing can detect the genetic mutations that can cause cavernomas. A genetic sample such as a swab from the cheek, or a blood test might be more suitable for some people. Genetic testing may be conducted.
Treatment might include pain and epilepsy medication.
The bleeding from a cavernoma can be reabsorbed, reducing symptoms and not causing major problems. However, if there is a large haemorrhage, it can cause pressure on the surrounding area of the brain and surgery to remove the malformed area will be recommended.
Progress in microsurgery means that surgery to address cavernomas is now more efficient. Deep-seated cavernomas in the brain and spinal cord can safely be removed in most cases if needed.
People who have cavernomas, or seizures as a result of cavernomas, might be asked to avoid some physical activities and contact sports. Patients who have surgery will be asked to return for monitoring either annually or every six months. This might include follow-up imaging and tests to ensure no further recurrence of the condition.