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Q&A with Our Doctors |
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Children's Sturge-Weber syndrome clinic includes specialists in Dermatology, Neurology, Neuropsychology, Neurosurgery and Ophthalmology. Here, five members of the clinic's multidisciplinary team, co-directors of the clinic Mustafa Sahin, MD, PhD, and Dean Sarco, MD, neurosurgeon Joseph Madsen, MD, ophthalmologist Anne Fulton, MD, and dermatologist Marilyn Liang, MD, describe the disorder and talk about ways to manage the syndrome.
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Dr. Sahin: It's a congenital disorder characterized by a vascular birthmark and neurological abnormalities. The classic symptom of the disease is a port wine stain located on the child's face, typically near or around the eye and forehead, which may vary in color from red to dark purple. Other symptoms can include angiomas on the surface of the brain leading to seizures and 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 on the side of the port wine stain. Although rare, it's possible for a child to have Sturge-Weber syndrome without a facial port wine stain. It's important to note that if a child does have a facial port wine stain, it doesn't necessarily mean he will have neurological abnormalities. In fact, only 8 percent of children with a facial port wine stain have neurological problems.
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Dr. Sahin: The cause is unknown. It is not thought to be inherited and is considered to be sporadic. Researchers believe that the skin lesions result from a somatic mutation of an unknown gene or genes.
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Dr. Sahin: Neurological evaluation is recommended when a port wine stain is accompanied by signs of neurological abnormalities or developmental delay. It's also recommended when there are no neurological signs but when there is a bilateral port wine stain, extensive port wine stain and/or involvement of the eyelids.
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Dr. Sahin: An MRI with contrast is the best diagnostic test. This, along with the physical appearance of the skin lesion, is usually sufficient to make a diagnosis. CT scans may help visualize the calcifications on the brain.
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Dr. Sahin: Sturge-Weber is a lifelong condition that cannot be cured. However, early diagnosis and treatment by a team of specialists can limit and prevent complications and improve the child's quality of life. Our clinic includes specialists in Neurology, Neurosurgery, Ophthalmology and Dermatology, so a child with Sturge-Weber may meet with one or more of these specialists, depending on the extent of their condition.
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Dr. Sarco: Seizures develop in 75 to 90 percent of all children with the syndrome. The seizures often start before 1 year of age and may worsen as the child gets older. 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.
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Dr. Fulton: About one-third of patients with the syndrome have congenital glaucoma on the side with the port wine stain. Glaucoma may be present at birth or develop later. Typically the eye with glaucoma appears enlarged. Children with suspected Sturge-Weber should be examined by an ophthalmologist to determine if glaucoma is present. 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. Children with Sturge-Weber who do not have glaucoma should be followed regularly for the development of glaucoma and also amblyopia.
Dr. Liang: Port wine stains are commonly treated with pulsed dye laser. It's 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.
Dr. Sahin: Treatment may also involve other Children's specialists, including physical therapy for children with muscle weakness and behavioral and educational therapy for children with developmental delays. We also work closely with the child's pediatrician to ensure that each patient gets individually tailored care that meets all of her needs.
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Dr. Madsen: Hemispherectomy is a well-established procedure and is recommended when chronic, severe seizures continue despite pharmacological treatment. The surgery involves removing all or almost all of one side of the brain where the seizures originate. 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 hemispherectomy is recommended for only a small subset of patients with very refractory seizures and is not necessary for most cases of Sturge-Weber syndrome.
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