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Cavernous Malformations

  • Overview

    A cavernous malformation refers to a collection of irregular or enlarged blood vessels in the brain or spinal cord.  Neurologists at Boston Children's Hospital have a strong history of diagnosing and treating cavernous malformations.

    • Cavernous malformations are also called cavernomas, cavernous hemangiomas, or occult vascular malformations
    • They can occur anywhere in the body, but usually only cause serious problems in the brain and spinal cord
    • Can range in from dime-sized to 3 - 5 inches or greater
    • Most cavernous malformations are congenital (present at birth)

    How Children's Hospital Boson approaches cavernous malformations

    Neurologists at Boston Children's Hospital have access to the latest equipment and techniques for diagnosing and treating cavernous malformations.  They also frequently pioneer new surgical approaches and equipment in their constant search for the best and most reliable ways of treating their young patients.

  • In-Depth

    What causes cavernous malformations?

    The exact cause of a cavernous malformation is not well understood, though genetics may play a role.  In patients seen by physicians at Boston Children's Hospital, there was a strong family history in 25 percent of patients.  If multiple family members have seizure disorders or associated blood vessel abnormalities on the skin, other family members may be at higher risk of a cavernous malformation.  

    The malformation results when small blood vessels (capillaries) within the brain mass or its coverings aggregate into enlarged or irregular masses. Compared to other blood vessels, capillaries have thin walls and lack supportive and stretchy tissue.  Thus, when they stretch out or malform from excessive blood flow, they often cannot return to their normal size.

    Researchers have found some evidence that radiation treatments for leukemia and other brain tumors may lead to lesions similar to cavernous malformations. 

    What are the symptoms of a cavernous malformation?

    Symptoms are caused by an accumulation of blood in and around the cavernous malformation when it spontaneously bleeds. The bleeding from such a blood vessel malformation can be slow and intermittent (referred to as subacute) or it can be rapid, causing a sudden onset of symptoms.

    Each child may experience symptoms differently, however, the following are some common symptoms that may be associated with a bleeding cavernous malformations:

    Children with multiple cavernous malformations in their brains usually lead normal active lives. It's not clear what makes a malformation bleed although head trauma may increase the risk. Thus, physicians recommend that children with cavernous malformations avoid activities with a high likelihood of severe head trauma, such as organized football. Otherwise, your child's activity does not need to be restricted.

  • Tests

    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.

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