VBF-Sturge-Weber Syndrome Community

Official chapter of the Vascular Birthmarks Foundation (VBF)


Seizure activity is also referred to as epilepsy or seizure disorder. There are many different types of seizures, and some patients can experience one or more of these types. The area of the brain affected can determine the type, severity and frequency of seizure activity. Patients are diagnosed on an individual basis. Signs of seizure can include, but aren’t limited to, one or more of the following: loss of consciousness, staring, suddenly collapsing and falling, jerking or convulsing of the face or limbs, or the stiffening limbs. Consult a physician for information and diagnosis.

There are many types of medicines used to control or alleviate the symptoms of seizure activity. Based on the age/weight of the patient, the severity and type of seizure, and any other medical problem, a specific medication or combination of medications can be used.

Generic forms of seizure drugs may be used, however, not all generic forms are exactly the same as the brand name drug. Sometimes the generic form is not as strong, and seizures may increase while on generic forms of seizure medications. Your physician should be consulted before changing to a generic drug. If a patient has seizures that are hard to control, switching from a brand name drug to a generic drug is not recommended.

Patients on seizure medications will need to have periodic blood testing to determine that the correct level of medication is in the patient’s system.

Depending on the type of medication used, varying side effects can occur. Please read all instructions carefully, paying attention to side effects, allergic reactions, and conflicts with other medications you might be taking. Patients should always check their medication before leaving a pharmacy, to make sure the proper medication and dosage are given.


There are 4 main types of glaucoma: primary open angle glaucoma (the most common), primary closed angle glaucoma, secondary open angle and secondary closed angle glaucoma, and developmental glaucoma.

Primary open angle glaucoma (POAG), or chronic glaucoma, is the most common form of the disease. POAG develops slowly over time and is not painful. Most patients are unaware of a problem until permanent damage has been done. The drainage canals in the eye become clogged over a period of time, causing inner eye pressure to rise. This condition requires a lifetime of regular monitoring and treatment.

Primary closed angle glaucoma (PCAG), or acute glaucoma, is more common in people of Chinese or Japanese decent. PCAG develops suddenly and can be very painful. Eye pressure can rise very swiftly, as the drainage canal is blocked or covered. In this condition, the iris and cornea is not as wide as it should be, resulting in the outer edge of the iris blocking the drainage canal when the pupil enlarges too much or very quickly. If immediate treatment is given, vision may be completely recovered, but if treatment is delayed permanent damage can occur.

Secondary open angle and secondary closed angle glaucoma are caused by conditions secondary to primary conditions of the eye. The conditions of both the primary cause and the secondary cause may allow vision to return to normal, and need no further treatment. In some cases the eye may be permanently damaged and require lifetime treatment.

Secondary conditions can include trauma to the eye, inflammation, tumor, cataract, diabetes, or can be caused by the use of certain drugs like steroids.

Developmental glaucoma is a rare condition present at birth. This condition occurs when the eye has failed to form correctly, or due to other developmental eye abnormalities. Surgery and eye drops are used to treat this type of glaucoma.

Port Wine Stain

Venular Malformations (Port Wine Stains) are always present at birth and can range from pale pink to dark purple in color. They are sometimes referred to as nevus flammeus. In the past these lesions were erroneously called “capillary hemangiomas.”

Port Wine Stains (PWS) occur in .3% of births and occur equally among males and females.

Laser therapy, which is used to remove a port wine stain, in most cases is temporary. Since the deficiency is in the nervous system, in time the blood will re-pool in the affected area and the birthmark will once again appear. 

Once a Port Wine Stain is lasered, it is important at the first sign of reoccurrence to have one or two treatments to keep it faded. The individual will need to have maintenance laser treatments for life.

Because Port Wine Stains can be progressive, treatment should be done early to prevent cobbling of the skin, thickening, and darkening of the stain. These lesions vary from low-grade to high-grade, pale to dark. Low-grade lesions progress at a slower rate than high-grade. Thickening of the gums and lips can also result from growth of a port wine stain. Debulking of the lip may be necessary.

Port wine stains occur most often on the face, but can be on any part of the body. Port wine stains covering the eyelid (or very near the eye or on the forehead) can be associated with elevated eye pressure, causing glaucoma. 

Port Wine stain on the face can also indicate brain involvement and an MRI should be performed to rule out associated diseases (like Sturge-Weber syndrome).

Lesions that are know as “geographic” with good skin peeking through parts of the stain, almost always respond well to laser therapy. Lesions that are more convoluted and dense will require more laser treatments.

Most experts agree that the first 7-8 treatments will achieve the maximum results. After these first initial treatments, the subsequent treatments will generally produce marginal results. Following maximum results, the patient should probably take a break of one year and then try a new laser for further PWS lightening. New lasers are coming out every year that are getting deeper vessels, which are, in turn, getting more clearance.

Developmental Delays and Learning Disabilities

Some SWS patients may experience developmental delays and/or learning disability. Depending on the presence of certain symptoms and their severity, some patients could require physical therapy and/or occupational therapy.

Some of the symptoms can include, but aren’t limited to:

  • Vision problems
  • Hearing problems
  • Difficulty with speech
  • Motor delays
  • Not meeting growth and/or childhood milestones (such as crawling, walking, eating, etc.)
  • Balance
  • Sensory issues
  • Weakness in extremities (one or more – arm/leg)
  • Problems learning to play or interact with peers, family, etc.
  • School issues

Klippel-Trenaunay Syndrome

Klippel-Trenaunay syndrome (KT) is a congenital disease. The cause is unknown and symptoms and their degree vary from patient to patient.

The most common conditions present in KT are: a port wine stain, soft tissue and bone hypertrophy (excessive growth), venous malformations, and lymphatic abnormalities.

Complications can include bleeding, cellulitis, venous thrombosis, and pulmonary embolism. Other conditions such as varicose veins, skin breakdown and ulceration, and secondary infection may also occur.

Other symptoms can include gigantism of the toes, hands, and feet, as well as lymphedema and involvement of the abdominal and pelvic organs, and fused fingers and/or toes.

Associated conditions, such as arteriovenous fistulae, can result in heart failure if left untreated. 

If venous malformation is the dominant condition, the following symptoms may be present to varying degrees: painful thrombosis (clotting), muscle cramps, joint pain, pain when walking, lower intestinal involvement which can result in rectal bleeding, or bladder involvement which can result in blood in the urine.

If lymphatic abnormalities are dominant the following symptoms may be present to varying degrees: soft tissue swelling and enlargement.

KT is usually present in only one limb, however, it may occur in multiple limbs, head, trunk area, or internal organs.

Treatment for KT is generally conservative. Compression therapy by the use of orthopedic elastic garments or intermittent pneumatic compression pumps is used to help with swelling in the limbs. Elastic garments also help protect the limbs from injury. Laser surgery is used to treat the port wine stain. Surgery is used to debulk excessive tissue. Sclerotherapy is used to restrict the flow of blood. Antibiotics, pain medication, and elevation of the affected limb(s) are used to treat symptoms of cellulitis. Hydrotherapy, such as swimming 2-3 times a week is highly recommended for extremity KT cases. (Read more about Simple Things You Can Do to Manage KTS by Dr. Kamiab Delfanian and Linda Shannon)

Anticoagulants are used to prevent blood clotting. Vein ligation where veins are clamped off, or vein stripping and vein resection might be necessary in some cases
Heel inserts may be used where the difference in the legs are less than 1 inch. Amputation may be necessary in very extreme cases.

Magnetic Resonance Imaging (MRI) studies are usually performed to help in the diagnosis of KT. Other imaging studies such as Doppler ultrasonography and angiography may also be used.