Cavernomas
A cavernoma is a cluster of abnormal blood vessels, usually found in the brain or spinal cord. These blood vessels form a collection of thin-walled, bubble-like cavities that can leak blood. Cavernomas may occur sporadically or be inherited as a genetic condition.
Symptoms
Cavernomas can cause bleeding within the brain or spinal cord (haemorrhage). A cavernoma located in the brainstem or other critical areas of the brain can be life-threatening because of the brain’s role in regulating essential functions such as breathing and heart rate.
Symptoms may include:
- Unusual sleep disturbances and irritability
- A family history of cavernomas
- Headaches and pain
- Dizziness
- Personality changes
- Problems with memory and attention
- Difficulties with balance and vision
- Weakness in the arms and legs
- Epilepsy and seizures
- Changes in the eyes, such as unequal pupil size
- Changes in the ability to perform normal daily activities
Emergency warning signs may include severe vomiting and loss of consciousness.
Diagnosis
A series of non-invasive tests may be performed to determine whether a child has a cavernoma. If the condition is known to run in the family, your doctor may recommend early testing.
Genetic testing can identify mutations associated with cavernomas. This may involve a cheek swab or a blood test. In some cases, parents may need to undergo genetic testing first so that their results can be used as a comparison for the child’s test.
Young children often require sedation or general anaesthesia to remain still during imaging studies such as computed tomography (CT) or magnetic resonance imaging (MRI) scans.
Treatment
Treatment may include medications to manage pain and control seizures.
In some cases, bleeding from a cavernoma may be reabsorbed by the body, resulting in symptom improvement without causing significant problems. However, a large haemorrhage can place pressure on surrounding brain tissue, and surgery may be recommended to remove the malformed blood vessels.
Advances in microsurgical techniques have significantly improved the treatment of cavernomas. Deep-seated cavernomas in the brain and spinal cord can now be safely removed in many cases when surgery is required.
Recovery
Children with cavernomas, or seizures related to cavernomas, may be advised to avoid certain physical activities and contact sports. Your doctor will provide individual recommendations based on your child’s condition.
Children who undergo surgery will require ongoing follow-up with their doctor, typically every six to twelve months. This may include imaging studies and other tests to monitor recovery and ensure there is no recurrence or progression of the condition.
