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Children's Hospital Boston recently opened a clinic to care for children with Sturge-Weber syndrome, a congenital neurological and skin disorder. The clinic's staff includes specialists in Neurology, Neurosurgery, Ophthalmology and Dermatology. Here, three members of the clinic's multidisciplinary team, co-directors of the clinic Mustafa Sahin, MD, PhD, and Dean Sarco, MD, and neurosurgeon Joseph Madsen, MD, describe the disorder and talk about ways to manage the syndrome.
What is Sturge-Weber syndrome?
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 on the side of the body opposite to the port wine stain, developmental delays and glaucoma. 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.
What causes Sturge-Weber syndrome?
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.
When should a child be referred to a specialist?
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.
How is Sturge-Weber syndrome diagnosed?
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, which are also typical of this syndrome.
How is it treated?
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 his condition.
Dr. Sarco: Seizures develop in 75 to 90 percent of all children with the syndrome. They 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 and early consideration is given to surgical treatment. About one-third of patients with the syndrome have congenital glaucoma. Treatment 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 undergo eye evaluations regularly to rule out its development.
Dr. Sahin: Pulsed dye laser is used to lighten and or remove port wine stains in children as young as 1 month of age. Also, we 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 his needs.
When is neurosurgery an option?
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 ’Äúplastic," 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.
More on Sturge-Weber, including incidences of the major clinical
manifestations: childrenshospital.org/views.
Contact the clinic: 617-355-2711 or childrenshospital.org/sws.
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