Sturge-Weber Syndrome (SWS) is a congenital disease (present at
birth). There is no known cause or cure for the disease. Not all
cases of SWS are identical and symptoms and their severity can vary.
A Port Wine Stain (PWS) on the face is usually visible at birth.
The PWS most often covers the forehead and eyelid, but can include
a larger portion (or smaller) on one or both sides of the face and
head, and can extend into areas like the throat, nose, tongue, gums,
and ear canal. However, the patterns and severity of PWS will vary
on a case-to-case basis.
There are reported cases of SWS where no visible PWS is present,
and others where PWS is also present on the trunk and/or extremities.
Abnormalities of the brain are common. The PWS is
present on the outer layer of the brain causing calcification of
the brain, and atrophy of the brain tissue.
Seizures are also a common symptom of SWS and are
usually a result of the calcification process. Most seizure activity
can be controlled or modified by the use of medication. In the most
severe cases, a hemispherectomy (where one hemisphere of the brain
is removed or detached) is used as a "last ditch effort"
to stop uncontrolled seizures. A device known as the Vagus Nerve
Stimulator may also be implanted. The device stimulates the vagus
nerve in the neck, sending a signal to the brain to help interrupt
SWS can affect the brain by being bilateral or unilateral
(affecting one or both sides of the brain). Hemiparesis (the weakening
or loss of use on the side of the body opposite the PWS) can also
In rare cases SWS can affect other organs in the body.
Mild to severe retardation can also be a result of
SWS. Learning disability can be another factor in SWS, as well as
behavioral problems, and in some cases, symptoms similar to ADD/ADHD
can be present.
Glaucoma may be present at birth, or can appear months
or years later. This disease affects the eye, resulting in vision
loss due to damage to the optic nerve. It is recommended that patients
have a yearly ophthalmology examination for glaucoma.
Some patients have been given the diagnosis of SWS
when they only have glaucoma and a PWS, but brain involvement is
typically the defining factor for SWS.
||Patients should have a
yearly eye exam to check for signs of glaucoma.
Most cases of SWS are diagnosed by age 3. If there is no sign of
brain involvement by age 3, experts agree that the patient will
likely not develop SWS. However, close monitoring of the eyes for
symptoms of glaucoma should continue throughout life.
Early treatment of the PWS is recommended, as the PWS can thicken
over the years and develop nodules or blebs (sometimes referred
to as cobblestones), which can bust open and bleed. Laser treatments
are now begun on infants, and can greatly improve the appearance
and reduce affects of the PWS in years to come.
Also, early treatment of PWS of areas like the gums and lip are
important, as these can become problem areas as they become engorged
and grow larger. Affected gums can result in dental problems (such
as bleeding of the gums, tooth decay and gum overlapping of teeth),
and the lip area may require surgery to be de-bulked.
The development of laser treatment has been greatly advanced over
the years, and it is recommended that adults, who have never been
treated or had little treatment, seek the advice of a skilled laser
||Many adults have received
little or no treatment for port wine stain issues. As one ages,
nodules or blebs can form, which bust and bleed. The skin can
also thicken and darken. It is recommended that adults seek
the advice of a physician.
Laser treatments usually leave small round spots on the treated
area, ranging in color from red to purple/black. There may also
be swelling in the treated area. These symptoms usually begin to
subside within several days, and it may take weeks or months for
the full affects of laser treatment to be seen. In some cases, the
laser doesn't leave any visible "dots" and no swelling
Each port wine stain treatment, results, and effects depend on many
factors - including location, depth of PWS, type of laser and settings,
||Laser treatment results
can vary from patient to patient. Factors affecting the outcome
range from type of laser used to the location and depth of the
port wine stain on the face, trunk or extremities.
Some port wine stain syndromes and conditions can appear to be similar,
and can be difficult to diagnose. Magnetic Resonance Imaging (MRI)
studies are typically used in the diagnosis of SWS. An MRI with
contrast (using dye) is the preferred method in determining SWS.
In addition, a CAT Scan, EEG, and other tests may be necessary in
the treatment and diagnosis of SWS and its related conditions.
Definition of Terms Used
Attention Deficit Disorder/Attention Deficit Hyperactivity
Disorder (ADD/ADHD) – Disorder of the central nervous
system. Patients can have trouble concentrating, paying attention,
and processing information and stimulation. Children often exhibit
problems in school, with the inability to sit still or follow directions,
and with speaking out at inappropriate times.
Atrophy – The deterioration or shrinking
Bilateral – Affecting both sides.
Blebs – A blister or pustule.
Calcification – The hardening of tissue
(brain tissue in relation to calcification regarding SWS).
Computed Axial Tomography (CAT Scan) – The
creation of a computer generated three-dimensional image from and
Cobblestones – Blebs and nodules in PWS
are often referred to as cobblestones. Bumps under the skin can
look like small pebbles or cobblestones, creating an uneven skin
De-bulking – The process of surgically removing
excess tissue from areas like the lip.
EEG (electroencephalogram) – Test used to
detect abnormal electrical activity of the brain.
Glaucoma – Eye disease, which causes increased
fluid pressure and damage to the optic nerve. There are often no
symptoms and vision loss can be rapid.
Hemiparesis – The weakness or slight paralysis
of one side of the body.
Hemispherectomy – The removal of one hemisphere
or lobe of the brain.
Laser (Light Amplification by Stimulated Emission of Radiation)
– Treatment for PWS by use of the transmission of an intense
beam of bright light to the affected area. There are many types
of lasers and laser manufacturers. Consult your physician for more
Learning Disability – Including, but not
limited to, the difficulty with reading, spelling, language, math,
Magnetic Resonance Imaging (MRI) – The generation
of a highly detailed 2-dimentional or 3-dimentional image of tissues
inside the body using a magnetic field.
Nodules – A knoblike growth or bump, protruding
from the skin.
Port Wine Stain (PWS) – PWS is present at
birth, and is a mass of malformed and dilated blood vessels in the
Sturge-Weber syndrome (SWS) – A disease
present at birth (congenital), usually defined by a PWS on the face,
and can include a variety of symptoms such as brain involvement,
seizures, and glaucoma.
Retardation – Depending on severity, some
of the symptoms might include the following: The limited ability
to care for oneself, low IQ, or problems with communication and
Seizures – 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.
Unilateral – Affecting one side.
Vagus Nerve Stimulator (VNS) – A device
implanted in the chest with two wires leading to the vagus nerve
in the left side of the neck. A magnet is also used with the VNS.
When a seizure is sensed to be coming on, the magnet is passed over
the implanted device, generating extra stimulation to interrupt
the seizure. This treatment is not considered a cure for seizures.