It is a neurological disorder from birth characterized by a wine-colored spot on the forehead and the upper eyelid on one side of the face.
This birthmark can range from pale pink to dark purple in color and is caused by an overabundance of capillaries around the trigeminal nerve just below the surface of the face.
Sturge-Weber syndrome is also associated with abnormal blood vessels on the surface of the brain as well as loss of nerve cells and calcification of the underlying tissue in the cerebral cortex, on the same side of the brain as the birthmark.
Neurological symptoms include seizures that begin in childhood and can worsen with age. Seizures generally occur on the side of the body opposite the birthmark and vary in severity. There may also be intermittent or permanent muscle weakness on the same side.
Signs and symptoms of Sturge-Weber syndrome
The hallmark of Sturge-Weber syndrome is the birthmark. It usually affects the forehead and upper eyelid. The mark on the face can vary in color from deep purple to light pink. It is very rare that a person with Sturge-Weber syndrome does not have a mark on their face.
Also this mark can affect both sides of the face, this is related to an abnormal development in the brain. The discoloration is caused by an excessive abundance of capillaries around the ophthalmic branch of the trigeminal nerve.
This is why it is extremely important that people with Sturge-Weber syndrome have an eye exam regularly.
In addition to the above, there may be seizures, weakness on one side of the body, glaucoma, and developmental delay. On the other hand, seizures and developmental delay are due to an extra layer of blood vessels on the surface of the brain.
Health problems and complications
Sturge-Weber syndrome is associated with several health problems, most of which arise during the first 12 months of life.
Neurological problems can include weakness, paralysis, and seizures. If the birthmark is on one side of the face, these symptoms usually affect the opposite side of the body.
Seizures often appear before 12 months and can get worse with age. Babies who have them before the age of 2 can also have consequences from this, such as learning difficulties.
Eye problems can occur, and about 70 percent of people with Sturge-Weber syndrome develop glaucoma.
Glaucoma is a buildup of fluid in the eye that causes a rise in pressure. Without treatment, the optic nerve and nerve fibers in the retina can be damaged and the patient can go blind. The eye may also protrude from its socket.
Emotional and behavioral problems are more common in children with Sturge-Weber syndrome. On the other hand, the sufferer will be more prone to migraine headaches and other headaches.
In rare cases, it affects internal organs, but there is an increased risk of nose and throat problems, as well as problems with the sinuses and frequent ear infections.
Furthermore, there is also an association with hypothyroidism and growth hormone deficiency in these patients.
Certain patients are at increased risk for sleep apnea. Other signs and symptoms reported by these patients include developmental delay and learning difficulties.
Over time, the brain on the side with the stain can shrink, and calcium deposits build up in the abnormal vessels and the brain below them. This may be visible on a brain CT or MRI scan.
Diagnosis of Sturge-Weber syndrome
The diagnosis of Sturge-Weber syndrome (SWS) depends on many factors. One of these is a port wine facial birthmark, which is a type of vascular birthmark.
Vascular birthmarks are caused by larger than normal blood vessels under the skin, and they can appear pink or dark, flat or raised, which is partially age dependent.
Similar abnormalities in cerebral blood vessels can usually be detected by MRI, and this is the basis for the Sturge-Weber diagnosis of brain involvement.
When ocular involvement occurs, such abnormalities of the vessel in and around the eye can cause an increase in eye pressure, which can lead to glaucoma as mentioned above.
Many patients diagnosed with Sturge-Weber have a combination of two or more criteria for skin, eye, and brain. Some patients have only brain involvement, which is called “isolated intracranial variant of Sturge-Weber syndrome.”
Those with a suspected diagnosis of Sturge-Weber syndrome should seek neurologic, ophthalmologic, and dermatologic evaluations, examining the brain, eyes, and skin, respectively. These and other evaluations are recommended to confirm a Sturge-Weber diagnosis and detect associated complications.
Treatment with Sturge-Weber cannot be cured, but steps can be taken to treat the symptoms.
For this syndrome, the treatment that is usually used is symptomatic. Treating the condition with a laser can be used to lighten or remove the birthmark.
Anti-seizure medications can be used to control the seizures you have. If this can be achieved, the result improves, although it is not normal. If the syndrome affects both sides of the brain, it is more difficult to treat and the prognosis is worse.
People with drug-resistant seizures can be treated by surgically removing epileptic brain tissue.
For the most serious and complicated cases of glaucoma, surgery may be an option to perform, in this sense doctors recommend controlling glaucoma annually.
Furthermore, physical therapy should be considered for infants and children with muscle weakness. Additionally, educational therapy is often prescribed for those with impaired cognition or developmental delays.
Although the birthmark and atrophy in the cerebral cortex may be present without symptoms, most babies will develop seizures during their first year of life.
There is a greater chance of intellectual decline when seizures begin before age 2 and are resistant to treatment. The prognosis is worse in the minority of children who have both sides of the brain affected by blood vessel abnormalities.