What Is Sturge-Weber
Sturge-Weber syndrome (SWS) is a neurological disorder marked
by a distinctive port-wine stain on the forehead, scalp, or around the eye. This
stain is a birthmark caused by an overabundance of capillaries near the surface
of the skin. Blood vessels on the same side of the brain as the stain may also be
affected. A large number of people with SWS experience seizures or convulsions.
Other complications may include increased pressure in the eye, developmental
delays, and weakness on one side of the body.
The medical term for SWS is encephalotrigeminal angiomatosis.
According to the National Organization for Rare
Disorders, SWS occurs in one of every estimated 20,000 to 50,000
live births. Approximately one in 1,000 babies are born with a port-wine stain.
However, only 6 percent of those babies have symptoms associated with SWS.
the Symptoms of Sturge-Weber Syndrome?
The most apparent indication of SWS is a port-wine stain, or
red and discolored skin on one side of the face. The discoloration is due to
dilated blood vessels in the face that make the skin appear reddened.
Not everyone with a port-wine stain has SWS, but all
children with SWS have a port-wine stain. A child must have the port-wine stain
and abnormal blood vessels in the brain on the same side as the stain to be
diagnosed with SWS.
In some children, abnormal vessels don’t cause any symptoms.
In others, they can cause the following symptoms:
- developmental delays
- cognitive impairment
- weakness on one side of the body
the American Association for Pediatric Ophthalmology and Strabismus, an
estimated 50 percent of children with SWS
develop glaucoma during infancy or later in childhood. Glaucoma is an eye
disease often caused by increased pressure in the eye. This can cause vision
impairment, sensitivity to light, and eye pain.
Causes Sturge-Weber Syndrome?
Though SWS is present at birth, it isn’t an inherited
condition. Instead, it’s the result of a random mutation in the GNAQ gene.
The blood vessel formations associated with SWS start when a
baby is in the womb. Around the sixth week of development, a network of nerves
develops around the area that will become a baby’s head. Normally, this network
goes away in the ninth week of development. In babies with SWS, however, this
network of nerves doesn’t go away. This reduces the amount of oxygen and blood
flowing to the brain, which can affect brain tissue development.
How Is Sturge-Weber
Doctors can often diagnose SWS based on the symptoms that
are present. Babies with SWS may not always be born with the characteristic port-wine
stain. However, they often develop the birthmark shortly after birth.
If your child’s doctor suspects that your child may have
SWS, they’ll order imaging tests, such as CT and MRI scans. These tests produce
detailed images of the brain, allowing the doctor to look for signs of brain
damage. They’ll also perform eye tests to check for the presence of glaucoma and
other eye abnormalities.
How Is Sturge-Weber
Treatment for SWS can vary depending on the symptoms a child
is experiencing. It may consist of:
- medications known as anticonvulsant medications,
which can reduce seizure activity
- eye drops, which can decrease eye pressure
- surgery, which can relieve glaucoma symptoms
- physical therapy, which can strengthen weak muscles
- educational therapies, which can help children
with developmental delays to advance as much as possible
If your child wishes to reduce the appearance of a port-wine
stain, laser treatments may be used. It’s important to note, however, that
these treatments may not completely remove the birthmark.
Complications Can Sturge-Weber Syndrome Cause?
According to Johns
Hopkins Medicine, 80
percent of children with SWS also have seizures. Twenty-five percent of
those children have full seizure control, 50 percent
have partial seizure control, and 25 percent have no seizure
control from medication.
Most children with SWS have a port-wine stain and brain
abnormalities that affect only one side of the brain. In some children,
however, both sides of the brain may be affected. These children are more
likely to experience developmental delays and cognitive impairment.
the Outlook for Someone with Sturge-Weber Syndrome?
SWS can affect children in different ways. Some children may
experience seizure disorders and severe development delays. Other children may
not have any symptoms other than a noticeable port-wine stain. Talk to a doctor
to learn more about your child’s specific outlook based on their symptoms.