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Sturge-Weber Syndrome

  • If your child has Sturge-Weber syndrome, it means that she was born with a vascular birthmark and neurological abnormalities.

    • Seizures develop in 75 to 90 percent of all children with the syndrome. The seizures often start before a child reaches age 1 and may worsen as she gets older.

    • About one-third of children with the syndrome have congenital (present at birth) glaucoma on the side with what’s called a port wine stain.

    • The total number of people with SWS is not known, but estimates range from one in 40,000 to one in 400,000.

    How Boston Children’s Hospital approaches Sturge-Weber syndrome

    The Sturge-Weber Syndrome Clinic at Children's is a national leader in the care of children with Sturge-Weber syndrome, providing comprehensive evaluation and treatment services to children from birth to adulthood. Our team includes specialists in the fields of:

    We also work closely with your child's pediatrician to ensure that she receives individually tailored care that meets all of her needs.

  • What causes Sturge-Weber syndrome?

    The cause is unknown. It’s not thought to be inherited. Researchers believe that the skin lesions result from a mutation of an unknown gene or genes.

    What are the symptoms of Sturge-Weber syndrome?

    The classic symptom of the disease is a port wine stain located on your child's face, typically near or around her eye and forehead, which may vary in color from red to dark purple. Although rare, it's possible for a child to have Sturge-Weber syndrome without a facial port wine stain.

    Other symptoms can include:

    • angiomas (benign tumors) on the surface of the brain leading to seizures
    • hemiparesis (weakness or paralysis on one side of the body) on the side of the body opposite to the port wine stain
    • developmental delays and glaucoma (damage to the optic nerve) on the side of the port wine stain

    It's important to remember that if your child does have a facial port wine stain, it doesn't necessarily mean she will have neurological abnormalities. In fact, only 8 percent of children with a facial port wine stain have neurological problems.

  • How is Sturge-Weber syndrome diagnosed?

    In addition to the visual appearance of your child’s skin lesion, diagnostic procedures may include:

    • 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 your child’s body

    • 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

  • How is Sturge-Weber syndrome treated?

    Sturge-Weber is a lifelong condition that can't be cured. However, early diagnosis and treatment of symptoms by a team of specialists can limit and prevent complications and improve your child's quality of life.

    • Seizures – Treatment is mainly directed toward trying to control the frequent seizures. This may be possible with anti-seizure medications. However, in severe cases, the epilepsy is resistant to medical treatment. In these cases, early consideration is given to surgical treatment.

    • Glaucoma – Treatment of the glaucoma may include medications to decrease the amount of fluid in the eye or to help drain fluid from the eye. Surgery to improve fluid flow is considered in more serious cases.

    If your child has Sturge-Weber but does not have glaucoma, she should be followed regularly for the development of glaucoma and also amblyopia (also called “lazy eye”).

    • Port wine stains – Port wine stains are commonly treated with pulsed dye laser, a device that is "tuned" to a specific wavelength of light and produces a bright light that is absorbed by blood vessels. The abnormal blood vessels are destroyed without damaging the surrounding skin. Many treatment sessions are often required.

    • Other treatment – Depending on his needs, your child's treatment may also include other Children's departments, including physical therapy for muscle weakness and behavioral and educational therapy for developmental delays.

    When is neurosurgery an option?

    Neurosurgery is recommended when your child experiences chronic, severe seizures that continue despite pharmacological treatment. The surgery involves removing all or almost all of one side of the brain where the seizures originate.

    Is the surgery safe?

    We've performed this procedure many times at Children's with excellent outcomes. In many cases, the children are seizure-free and no longer depend on multiple medications. Because a child's brain is "plastic," the remaining portion is able to overtake most of the functions of the missing side. Partial paralysis on the side of the body opposite the removed portion is common. It is important to note that surgery is recommended for only a small subset of patients and is not necessary for most cases of Sturge-Weber syndrome.

  • Ryan's Story

    About one in every ten babies is born with a birthmark. Although the cause of birthmarks is not known, most are harmless and don't require treatment. Some, however, can be a sign of a serious problem.

    When Ryan McIntyre was born, a dark red birthmark covered his left eyelid and part of his forehead. Within days, Children's dermatologist Marilyn Liang, MD, diagnosed the discoloration as a capillary malformation, a common type of birthmark sometimes called a "port wine stain" because of its purplish color.

    Dr. Liang also suggested that the mark could be a sign of Sturge-Weber syndrome (SWS), a rare condition characterized by excessive blood vessel growth on the surface of the brain that can cause seizures, developmental delays, glaucoma, and weakness or paralysis on one side of the body. The total number of people with SWS is not known, but estimates range from one in 40,000 to one in 400,000.

    An MRI would be needed to confirm the diagnosis, however, which doctors wanted to perform when Ryan was six months old because the anesthesia risk is less at that age.

    Since he was otherwise healthy and wasn't showing any symptoms of SWS, Ryan and his family--which included twin sister Ava--went home to suburban Boston.

    Diagnosis
    When the six-month mark arrived, the McIntyres returned to Children's for Ryan's MRI. The results confirmed their worst fear: a diagnosis of SWS.

    Mustafa Sahin, MD, PhD, a Children's neurologist and co-director of the Sturge-Weber Syndrome Clinic, immediately met with the McIntyres to discuss their next steps. Because SWS can affect so many parts of the body, he laid out a plan of care that included frequent appointments with various Children's specialists.

    Ryan would have to meet with an ophthalmologist to be examined for glaucoma, a dermatologist to treat his port wine stain, a neurologist to monitor any seizure activity, and behavioral and educational therapists to check for developmental delays.

    "The news was overwhelming but Dr. Sahin was great," says Pam. "He was the first to admit that he doesn't have all the answers. There is so much uncertainty with how Ryan's situation will evolve because so much varies from child to child. But Dr. Sahin has always been extremely optimistic given how well Ryan has progressed and has always been very positive."

    Ryan's Symptoms

    Seizures
    When Ryan was nine months old, he had his first seizure. At 14 months, he experienced multiple seizures over a four day span when he was hospitalized with a viral infection. He has had eight seizures since then and has been followed closely by Dr. Sahin.

    "You never get used to it," says Pam. "Each one is an earth-shattering event and is very upsetting."

    To help control the seizures, Ryan takes an anti-seizure medication (Trileptal or oxcarbazepine) everyday.

    Port Wine Stain

    Over time, Ryan's port wine stain has slowly faded with the help of laser treatment. Every three months, he sees Dr. Liang who uses a device called a pulsed dye laser to destroy the abnormal blood vessels beneath the skin.

    The treatment, which usually takes about ten minutes, feels like a rubber band snapping against the skin. If anesthesia is not used, an anesthetic cream is used to numb the area being treated.

    "He doesn't like when it's happening," says Pam. "We have to hold him in place. But by the time we're in the car on the way home he's fine, unless it's a sedation treatment which takes a bit longer to recover."

    Immediately after treatment, a purple discoloration appears at the treatment site. Ava calls it "Ryan's polka dots." This discoloration lasts for about a week then slowly fades to normal skin color. To ensure the best results, Ryan must avoid the sun and wear a hat or sunscreen to prevent a tan which inhibits the laser treatment and increases the chance of side effects.

    So far, Ryan has had seven pulsed dye laser treatments and will need further sessions as he continues to grow.

    Other symptoms

    Ryan has shown no signs of glaucoma but continues to see an ophthalmologist every six months. He has exhibited some mild developmental delays, however, and has weekly sessions with a physical therapist, occupational therapist and speech therapist who work with him to strengthen and develop his fine motor skills and speech.

    Today

    Today, Ryan is a happy three year-old who spends most of his time playing with his sister and going to pre-school.

    Because of Ryan's seizures, Pam, her husband and caregivers must keep a close eye on him. Everyone knows what to look for and how to react when a seizure happens.

    "It's always in the back of your mind," says Pam. "If he's playing in another room and I don't hear him, I have to yell 'Ryan are you okay?' In the car I need to watch him in the rear-view mirror. We always feel like we're just waiting for the next one to happen. Our fears are heightened further if he has so much as a slight cold."

    Helping them cope has been the team of doctors and nurses at Children's Sturge-Weber Syndrome Clinic.

    "It's been difficult three years but the doctors at Children's have been great. Dr. Sahin is so accessible. I've emailed him a question and gotten a reply within five minutes or he'll call me wherever I am," says Pam. "It's just so comforting to know that he's there."

    Jennifer McCrave, RN, the Sturge-Weber Clinic Coordinator has also been a huge help.

    "Jennifer has been a godsend," says Pam. "I can't say enough about how much she means to me and my family. I can call her when I'm upset or when I have questions, and she knows exactly what to say and is always incredibly caring and sympathetic to our concerns. She's just great."

    "We feel so fortunate and blessed to have so many caring people in Ryan's life. We haven't taken for granted for one second that we are receiving the best care in the country at Children's which, fortunately for us, is so close by."

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