Related to Sturge-Weber Syndrome
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
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
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
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.)
- 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 (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
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.