Cavernous malformations

Diagnosis for cavernous malformations

Your physician makes the diagnosis of cavernous malformation with a complete medical prenatal and birth history of your child, physical examination, and diagnostic tests.

Diagnostic procedures may include the following:

• magnetic resonance imaging (MRI)- a diagnostic procedure that uses a combination of large magnets, radiofrequencies, and a computer to produce detailed images of organs and structures within the body. This test is done to rule out any associated abnormalities of the spinal cord and nerves.
• computerized tomography scan (Also called a CT or CAT scan.) - a diagnostic imaging procedure that uses a combination of x-rays and computer technology to produce cross-sectional images (often called slices), both horizontally and vertically, of the body. A CT scan shows detailed images of any part of the body, including the bones, muscles, fat, and organs. CT scans are more detailed than general x-rays.
• Arteriogram (also called angiogram)- a procedure that provides a scan of arteries going to and through the brain.

Treatment for cavernous malformations at Boston Children's Hospital

Specific treatment for cavernous malformations will be determined by your child's physician based on:

• Your child's age, overall health, and medical history
• Extent of your child's the condition
• Your child's tolerance for specific medications, procedures, or therapies
• Expectations for the course of the condition
• Your opinion or preference

Surgical intervention is often the best treatment for cavernous malformations because neurosurgeons can often easily separate the malformation from the surrounding brain.  However, not all cavernous malformations that become symptomatic can or should be operated upon.

Your physician will determine if surgery is the best option for your child based on the following considerations:

• The number of malformations present
• How easily accessible the malformations are
• Whether or not the surgery itself will cause neurological deficits
• The severity and recurrence of cavernous malformation symptoms
• Whether or not the risks outweigh the benefits
• Whether or not the lesions bleed repeatedly

Many people with cavernous malformations can go their whole lives without noticing any ill effects, so often the best treatment is observation and re-evaluation.

In cases where a child has multiple malformations, observation and re-evaluation will also allow physicians to determine which malformations are causing the symptoms. 

Although bleeding from cavernous malformations can cause serious neurologic deficits, in most cases, these recover over time and the hemorrhages are rarely fatal.  Re-bleeding rates of cavernous malformations are extremely variable. Some patients have only one bleeding event and never have a recurrence of their symptoms, even during more than a decade of follow up. 

Some hospitals may suggest radiation therapy (including stereotactic radiosurgery, gamma-knife or others) for treating cavernous malformation, however, physicians at Children's have found that in most cases the radiation causes harm than good.  Often radiation treatment leads to new neurological symptoms and the symptoms associated with the cavernous malformation often persist or even worsen. Our physicians, therefore, recommend radiation therapy only as a last resort when malformations are completely untreatable by any other technique.