Sturge-Weber Syndrome
What does Sturge-Weber Syndrome (SWS) look like?
The most apparent sign of SWS is a birthmark or port wine stain (PWS) on the face. The PWS is due to an overabundance of capillaries just beneath the surface of the involved areas.
When the port wine stain covers the eye and forehead region of the face, SWS should be considered.
In rare instances, SWS is present even in the absence of the PWS. SWS consists of three basic types involving a PWS on the face, eye or the brain:
Type 1, the most common, involves both facial and brain vascular malformations and may involve glaucoma.
Seizures usually occur within the first year of life as a result of the brain involvement. Eye involvement is normally noted within the first year of life as well. The white portion of the eye may appear bloodshot due to the overgrowth of blood vessels on the eye.
In rare cases, the facial and brain aspects involve both sides of the head. Mental and physical development can be impaired to varying degrees, depending on the amount of vascular birthmark throughout the brain and eye.
Type 2 involves a vascular malformation on the face and the possibility of glaucoma, but no evidence of brain involvement.
Recognizing the facial port wine stain is often the first sign.
Throughout the life of the individual, connected symptoms may include glaucoma, cerebral (brain) blood flow abnormalities, headaches and various other complications.
Type 3 is commonly noted to have vascular malformation in the brain, with no face stains and usually no development of glaucoma.
Commonly referred to as forme fruste, this type is identified through brain scans with the use of a contrasting agent (special dye). It can be confused with other diagnoses prior to a brain scan and can be difficult to diagnose.
What causes SWS and who gets it?
SWS is present at birth (congenital) and does not run in families, so has no known genetic link. We do not know the cause or exactly how many babies worldwide have it, but it is a rare condition.
Will SWS change?
SWS has many eye and internal organ problems associated with it:
- Neurological concerns relate to the development of excessive blood vessel growth on the surface of the brain in types 1 and 3.
- Seizure activity is the most common early problem, often starting by 1 year of age. The convulsions usually appear on the opposite side of the body from the port wine stain and vary in severity.
- A weakening or loss of the use of one side of the body may develop opposite to the port wine stain.
- Developmental delay of motor and cognitive skills may also occur to varying degrees.
- Increased pressure within the eye (glaucoma) is another condition, which can be present at birth or develop later. About 70 percent of people with SWS develop glaucoma. The glaucoma is usually restricted to the eye that has the stain involvement. Enlarging of the eye can also occur in the eye that has been affected by the stain.
- Choroidal lesions are present in about 40 percent of patients (the choroid is a vascular membrane containing large cells that lies between the retina and the sclera of the eye).
I believe that my child has SWS. What should I do now?
Referral to a specialty center such as Children's is crucial to ensure proper treatment by a team of medical specialists. Children with SWS are followed by a pediatrician, neurologist, ophthalmologist and dermatologist, along with other members of our multidisciplinary team.
How will Children's diagnose SWS?
Generally, SWS is diagnosed at birth or in early infancy based on the external signs we see in your child. Brain imaging can confirm central nervous system involvement.
An MRI scan can find abnormalities associated with the SWS malformations of the brain that can confirm the diagnosis, even in very young children.
How will Children's treat SWS?
Children's will perform yearly monitoring for glaucoma. Other treatment for SWS is based on the symptoms your child is having and includes:
- Laser treatment may be used to lighten or remove the birthmark.
- Anticonvulsant medicines may be used to control seizures.
- Surgery may be performed on more serious cases of glaucoma.
- Physical therapy will help support infants and children with muscle weakness.
- Educational intervention is often prescribed for those with mental retardation or developmental delays.