Did you know that Sturge Weber syndrome can affect the brain, skin, and eye systems, which can be detected from birth. Symptoms of this disease are usually visible from birth, aka congenital.
The following is information about symptoms, causes, how to treat it, and complications.
What is Sturge Weber Syndrome?

Quoting from Rare disease, Sturge-Weber Syndrome (SWS) is a rare vascular disorder characterized by the presence of facial birthmarks called port-wine birthmarks , abnormal blood vessels in the brain, and eye disorders such as glaucoma.
SWS can be considered a spectrum of diseases where individuals may have abnormalities affecting all three of these systems (i.e. brain, skin and eyes), or just two, or just one.
As a result, the specific symptoms and severity of the disorder can vary dramatically from person to person. Symptoms are usually present at birth (congenital), but the disorder does not run in families. However, some symptoms may not develop until adulthood.
This condition can be classified as a neurocutaneous syndrome or one of the phakomatoses. Neurocutaneous syndrome or phakomatosis is a term for a group of disorders in which “growths” develop on the skin, brain, spinal cord, bones and sometimes other organs of the body. In the case of SWS, these “growths” are abnormal blood vessel malformations.
There are three main subtypes of SWS, namely:
- Type 1 consists of skin and neurological symptoms. These people may or may not have glaucoma.
- Type 2 consists of skin symptoms and possible glaucoma, but no evidence of neurological involvement.
- Type 3 consists of neurological involvement, but no skin abnormalities. Glaucoma is usually absent. Type 3 is also known as the isolated neurological variant.
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Symptom

The most obvious symptom of SWS is the port-wine sign , or red, discolored skin on one side of the face. The discoloration is caused by the dilation of blood vessels in the face, making the skin appear flushed.
Not everyone with a port-wine stain has SWS, but all children with SWS have port-wine stains . A child is diagnosed with SWS if they have a port-wine stain and abnormal blood vessels in the brain on the same side as the stain.
In some children, abnormal blood vessels do not cause any symptoms. and in others, they may cause the following symptoms:
- developmental delay
- cognitive impairment
- seizure
- weakness on one side of the body
- paralysis
- Glaucoma
In addition, angiomas can also form in the brain. In some children, this causes problems with:
- Endocrine system
- Nervous system
- Vision
According to 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 that is often caused by increased pressure in the eye. This can cause vision problems, sensitivity to light, and eye pain.
Reason
According to MedlinePlus , Sturge-Weber syndrome is caused by mutations in the GNAQ gene. This gene provides instructions for making a protein called guanine nucleotide-binding protein G(q) subunit alpha (Gαq).
This Gαq protein is part of a group of proteins (complex) that regulates signaling pathways to help control the development and function of blood vessels.
Mutations in the GNAQ gene that cause Sturge-Weber syndrome result in the production of a protein with impaired function. As a result, the altered Gαq protein cannot play its role in regulating signaling pathways, resulting in abnormal signaling.
Enhanced signaling likely disrupts the regulation of blood vessel development, leading to abnormal and excessive blood vessel formation before birth in people with Sturge-Weber syndrome.
Frequency of Occurrence
SWS is a rare condition, with only one in 20,000-50,000 newborns having the condition. About three in 1,000 babies are born with a port-wine birthmark. Only about 6% of babies (about one in 20) with the birthmark also have neurological symptoms associated with SWS.
The risk increases to 20-50% when the port-wine birthmark is on the forehead, temple area or upper face. SWS can affect individuals of any race or ethnicity.
Risk Factors

Since this is a disease caused by a gene mutation problem, the risk factor is greater if both parents have the same condition.
Physical and family history are also associated with neurological and cognitive development in SWS patients. Patients with bilateral brain involvement are more likely to have learning disabilities and intellectual disability, while the extent of the port-wine birthmark is associated with epilepsy.
Family history of birthmarks is associated with symptomatic stroke, and family history of seizures is associated with earlier onset of seizures. Earlier onset of seizures is associated with learning disabilities, intellectual disability, stroke-like episodes, symptomatic stroke, hemiparesis, visual field deficits, and brain surgery.
Diagnosis
Often, the first step in diagnosing Sturge-Weber syndrome is for a health care provider to notice and examine a port-wine birthmark.
Babies born with birthmarks may also have tests to check for problems with their brain and eyes. Tests may include:
- MRI of their brains with and without contrast.
- A CT scan of their brain can help detect excess calcium deposits.
- Electroencephalogram (EEG) in children with seizures.
- Comprehensive eye examination, including pressure measurement.
- A doctor’s evaluation
- Magnetic resonance imaging or computed tomography
Complications
A number of health problems can arise with Sturge-Weber syndrome. Most appear during the first 12 months after the baby is born.
Neurological problems
Neurological problems may include:
- weakness
- paralysis
- seizure
If the birthmark is on one side of the face, symptoms usually affect the opposite side of the body. Seizures usually appear before the age of 12 months, and can worsen with age.
Babies who have seizures before age 2 may also have learning difficulties.
Glaucoma
Eye problems can occur, and about 70 percent of people with Sturge-Weber syndrome develop glaucoma. Glaucoma occurs when fluid builds up and increases pressure in the eye.
Without treatment, this can cause damage to the optic nerve and nerve fibers in the retina. Vision loss can occur, and the eye may even bulge out of its socket.
Other Possible Complications

There is also a higher risk of:
- developmental delays and learning difficulties
- emotional and behavioral problems in children
- migraines and other headaches
- sleep apnea
- hypothyroidism
- growth hormone deficiency
- ear nose and throat problems
- sinus and ear infections
- Rarely, it affects internal organs.
Over time, the brain on the affected side may shrink, and calcium deposits build up in the abnormal blood vessels and the brain beneath. This may show up on a CT scan of the brain or an MRI.
Handling
Treatment for Sturge-Weber syndrome varies depending on the specific symptoms your child is experiencing. For example, laser skin resurfacing can lighten or remove port-wine birthmarks. It’s important to note that port-wine birthmarks are permanent. They don’t go away on their own without treatment.
If your child is experiencing seizures as a symptom of Sturge-Weber syndrome, treatment may include:
- Anticonvulsant drugs.
- Focal resective surgery, if seizures only occur in one part of the brain, usually in the occipital area.
- Hemispherectomy if the entire hemisphere is abnormal and causes seizures.
- Vagus nerve stimulation, which sends electrical impulses to the brain to stop seizures before they start in people who are not candidates for the surgeries listed above.
Other treatments for Sturge-Weber syndrome may include:
- Physical therapy for muscle weakness.
- Regular eye exams to detect or treat glaucoma.
- Special education in cases of developmental delay or intellectual disability.
Prevention
SWS gene mutations occur sporadically (for no apparent reason). There is no proven way to prevent Sturge-Weber syndrome.
When to Call a Doctor?
Seizures, vision problems, paralysis, and changes in alertness or mental state may mean the brain covering is involved. These symptoms should be evaluated and treated promptly by a doctor.
Parents, that’s the information about Sturge-Weber Syndrome. Hopefully this information can be new knowledge for Parents !
Republished with permission from theAsianparent Indonesia