Gorham-Stout Disease Testing & Diagnosis

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Contact the Vascular Anomalies Center

How is Gorham-Stout diagnosed?

There is no one test that can positively diagnose Gorham-Stout disease. Your physician will conduct a thorough medical exam and ask questions about your child to create a detailed medical history.

Additional tests your physician may recommend include one or more of the following:

  • Serial MRI (magnetic resonance imaging): This imaging test uses a magnetic field and radio wave energy to create highly detailed images of organs and tissues. At Boston Children’s, our musculoskeletal experts are actively developing improved MRI imaging protocols specific to bone and muscle diseases.
  • CT scan Imaging test that takes a series of cross-sectional X-ray images of bones, blood vessels and tissues to create a high-resolution, detailed picture of a targeted region of the body.
  • Biopsy A procedure that takes a tissue sample for further testing in a laboratory.

MRI or CT scans of a patient with Gorham-Stout will show bone that has disappeared, appears to have holes in it or looks hollow.

Expert Gorham-Stout diagnosis at Boston Children’s

Because Gorham-Stout disease is so rare with few telltale symptoms, it is commonly misdiagnosed or missed altogether. If the disease progresses far without treatment, it can severely affect surrounding tissues and systems, leading to neurological impairment, bone deformity and infection.

At Boston Children’s, our team has treated and consulted on more than 50 patients with Gorham-Stout disease. That experience means our team can often recognize the signs of Gorham-Stout on imaging tests, even in complex cases. And because experts from up to 17 medical specialties are involved in our Vascular Anomalies Center, you can be confident your child will have access to the right specialist to treat all of his symptoms.

We also offer:

  • Advanced diagnostic tools: We use the most advanced imaging tools available today for precisely analyzing bone and tissue. We maximize the use of MRI to avoid the radiation from CT scans and to better see the lymphatic tissues next to affected bone. We also avoid commonly used tests we know do not provide the most detailed, accurate information possible.
  • Precise diagnosis for better treatment: We pinpoint the location and severity of Gorham-Stout so we can develop customized, targeted treatment plans. Learn more about Gorham-Stout treatment at Boston Children’s.

Reviewed by Cameron Trenor, MD, © Boston Children’s Hospital

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- Sandra L. Fenwick, President and CEO

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