WHAT IS STURGE-WEBER SYNDROME? UNDERSTANDING THE CAUSES, SYMPTOMS, DIAGNOSIS AND TREATMENT
Medically Reviewed by Dr. Rae Osborn, Ph.D.
What is Sturge-Weber Syndrome?
Sturge-Weber syndrome (SWS), also referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological disorder that affects approximately 1 in 20,000 to 1 in 50,000 infants. SWS typically has three characteristic features: port-wine birthmark, glaucoma, and leptomeningeal angioma. Children born with the condition may exhibit symptoms such as seizures at about 6 months of age and have cognitive and behavioral impairments.
The telltale birthmark presents as a visible red or pink-colored stain on one side of the face (including the upper eyelid and part of the forehead). Less commonly, it can affect both sides of the face.
Types of SWS
There are three different types of Sturge-Weber syndrome.
- Type 1: Consists of neurological and skin manifestations. Glaucoma may or may not be present.
- Type 2: Skin symptoms along with possible glaucoma, but no neurological symptoms are evident.
- Type 3: No port-wine stain is evident on the skin, but neurological signs indicating brain issues do occur in patients with this type of SWS. Glaucoma is not involved.
Causes and Risk Factors
SWS is caused by a genetic mutation occurring during fetal development. This is an R183Q somatic mosaic mutation, which affects the GNAQ gene. A somatic mosaic mutation is when a gene changes in some but not all of the body cells, creating a mosaic pattern. There are no specific risk factors for developing SWS since it is caused by a sporadic mutation.
Since R183Q is a somatic mutation, it means that the genes in the egg and sperm are unaffected. SWS is, thus, not hereditary but occurs on occasion during development. The mutation leads to problems in blood vessel development.
A facial port-wine stain is a key indicator of SWS, and its size might correlate with the extent of neurological involvement. Children with a larger birthmark may be at higher risk of more severe brain tissue problems.
Sturge-Weber Syndrome Signs and Symptoms
- Port-wine Stain on the Skin: The port-wine stain (nevus flammeus) birthmark is due to abnormal blood vessel development and growth. The skin, as a result, takes on a red or pink-colored mark. This birthmark commonly occurs on one side of the face.
- Neurological Symptoms:
- Leptomeningeal Angiomas and Seizures (often treatment-resistant and progressive): Leptomeningeal Angiomas are abnormal blood vessel clusters in the brain tissue, which may affect blood flow to parts of the brain. The seizures may occur in the parts of the brain affected by these Angiomas.
- Hemiparesis (Unilateral Weakness): Hemiparesis is muscle weakness on one side of the body. This loss of strength and weakness in people with SWS is also due to brain angiomas.
- Cognitive Impairment and Developmental Delays: Intellectual disability and delays in development can occur in children with SWS.
- Headaches and Migraines: These are other possible symptoms in children with SWS.
- Ophthalmological Symptoms
- Glaucoma: This happens when there is increased eye pressure and may result in vision loss.
- Choroidal Hemangiomas: These are blood vessel tumors of the eye that grow in the choroid layer.
- Conjunctiva and Scleral Hemangiomas: Blood vessel abnormalities can also occur in the outer eye membranes.
Other Possible Symptoms
- Hypothyroidism: This condition is a potential symptom of SWS when too little thyroid hormone is released.
- Behavioral and Psychiatric Symptoms (ADHD, anxiety, emotional challenges): Anxiety and depression are commonly seen in individuals with SWS. Behavioral problems include self-injury and aggression.
- Autism: Autism spectrum disorders do sometimes occur in children with SWS.
There is variability of symptoms; not everyone with SWS will experience all of the symptoms listed here.
Complications
SWS can progress with patients experiencing worsening seizures. The eye may also swell (buphthalmos) due to glaucoma. Patients may lose vision if both eyes are affected and if the glaucoma worsens. Hemiplegic migraines may develop in patients, and the syndrome may also increase the chance of a stroke or brain atrophy.
Diagnosis
Diagnosis of SWS includes a combination of approaches:
- Physical examination (assessing the port-wine stain): The presence of the port-wine birthmark above the eyelids and on the forehead is a sign that a patient may have SWS.
- Neurological evaluation: This is an important part of the process since SWS often affects the nervous system.
- Brain imaging (MRI, CT scan, and Ultrasound): The imaging looks for brain abnormalities. A brain MRI with contrast can be used to check for angiomas. A head CT is also an option for showing abnormalities in the brain related to the angiomas. You can also see Sturge-Weber syndrome in an ultrasound. A cerebral ultrasound can show brain abnormalities in newborns who have SWS.
- Eye examination to check for glaucoma: Since glaucoma is part of the Sturge-Weber syndrome triad, it is important for doctors to test for it.
- Genetic Testing: While genetic testing is usually not used to diagnose SWS, it can be helpful in patients with unusual features.
Differences between Sturge-Weber Syndrome and Other Phakomatoses
Phakomatosis is a disorder that affects the skin and causes lesions of some type. SWS, Neurofibromatosis, and Tuberous Sclerosis Complex (TSC) are all classified as phakomatoses.
Neurofibromatosis and tuberous sclerosis are common neurocutaneous disorders. Patients with these two conditions do not have the port-wine stain of SWS but rather have other features:
- Neurofibromatosis: The signs include intertriginous freckles, growths in several organs, café au lait patches (brown flat patches on the skin), and neurofibromas (tumors that grow on nerves). There has been a rare association of Neurofibromatosis type-1 with Sturge-Weber syndrome occurring together in the same patient.
- Tuberous Sclerosis: This is a complex genetic condition that impacts the skin and the brain, with patients often having epilepsy. It also causes problems in several organs, including the growth of benign tumors in various parts of the body, such as the brain, skin, kidneys, heart, lungs, and eyes. Tuberous sclerosis is characterized by seizures, delays in development, and ash leafy spots (light patches on the skin). There may also be raised patches of skin on the forehead and growths on the face. The key difference between Sturge-Weber and Tuberous Sclerosis Complex is in the symptoms, with the skin lesions being different. In the case of SWS, patients also have epilepsy. Moreover, the patients always have a port-wine stain (which is rare in patients with tuberous sclerosis). Furthermore, those with TSC develop tuber-like tumors that are different from the angiomas seen in SWS.
Differential Diagnosis
- PHACE syndrome vs. Sturge-Weber
PHACE syndrome is when a child has a large red birthmark on the face, which is a hemangioma. This syndrome is characterized by blood vessel problems in the brain, as well as heart and eye problems. Children with Sturge-Weber have a different type of facial birthmark called a port-wine stain, which is a malformation of the capillaries. Similar to PHACE syndrome, they also have eye problems and angiomas in the brain.
- Sturge-Weber vs. Klippel-Trenaunay syndrome
Patients with Klippel-Trenaunay syndrome have a port-wine stain, usually on one leg, and an overgrowth of lymph vessels and blood vessels. Varicose veins may also be present on the leg. However, SWS patients have a port-wine stain on their faces.
Sturge-Weber Syndrome Treatment
SWS cannot be cured. Instead, treatments focus on managing the individual symptoms of the condition. Treatment options typically focus on the following symptoms.
- Seizures: Seizure management in Sturge-Weber syndrome (SWS) often involves pharmaceutical approaches. If seizures persist despite medication, surgery may be necessary. For highly localized seizure activity, a focal lesionectomy is performed. In young children with seizures affecting an entire hemisphere, hemispherotomy, the removal of a hemisphere, may be considered. Low-dose aspirin is sometimes suggested to help with stroke-like symptoms and seizures.
- Glaucoma: This condition in SWS patients is usually treated with eye drops or surgery. A trabeculectomy procedure is a surgical method that helps relieve the pressure in the eye and is thus used to treat glaucoma if eye drops do not work. Annual eye exams should be done for a child with SWS to assess and monitor glaucoma.
- Developmental delays: Occupational and physical therapy, along with special education, can assist children with Sturge-Weber syndrome.
- Port-wine stain: A pulsed-dye laser is used to help lighten the stain and make it less noticeable.
- Muscle weakness: Physical therapy is recommended to address muscle weakness. Both resistive and strengthening exercises can treat muscle weakness associated with SWS. Children with hemiparesis are often treated with constraint-induced movement therapy to encourage movement of the affected side.
- Speech and Behavioral Therapy: Counseling can help children with behavior problems. Speech therapy is also helpful in people with SWS.
Regular monitoring is vital for managing the symptoms of Sturge-Weber syndrome.
Living with Sturge-Weber Syndrome
Life expectancy is not necessarily lower than normal, but quality of life may be impacted.
The prognosis of SWS depends on neurological involvement. Children who begin experiencing seizures before the age of two are at a higher risk of developmental delays and cognitive impairments.
Self-esteem may be impacted because of the birthmark, and development may be delayed. Vision problems may also occur, making learning and other aspects of life challenging.
For those with SWS, a multidisciplinary approach is needed to help treat the different symptoms and manage daily life.
Research and the Future
Ongoing research into SWS includes genetic studies and investigations into better treatment options. One of the significant medication options that has been discovered is to combine low-dose aspirin with sirolimus. Also, Rapamycin cream used along with a pulsed dye laser has been reported to help reduce the appearance of the birthmark.
Presymptomatic treatment of children born with SWS is now thought to produce better neurological outcomes in patients. Clinical trials are underway investigating new drug therapy for treating epilepsy associated with SWS.
Genetic research has discovered more gene variants that seem to cause SWS. This may lead to new treatments. Various gene-targeted therapies are being researched and developed to treat genetic diseases. Advances in gene therapy mean that some of the symptoms of SWS, such as glaucoma, may be treated this way in the future.
FAQs
Is Sturge-Weber Syndrome Progressive?
SWS is usually progressive; however, the course of the condition can vary on an individual basis. It is, therefore, essential to initiate evaluation and treatment as soon as possible.
What is Tram-Track Calcification in Sturge-Weber?
Calcification (calcium buildup) present in the brain cortex of people with SWS is known as tram-track calcification. These are caused by vascular problems and leptomeningeal vascular malformations in the brain.
What is a Pheochromocytoma in Sturge-Weber Syndrome?
A pheochromocytoma is a tumor that forms in the chromaffin cells (specialized cells that produce and release hormones like adrenaline and noradrenaline) of the adrenal gland. Patients with SWS sporadically develop a pheochromocytoma, i.e., not all patients will exhibit this tumor.
Can Sturge-Weber Develop Later in Life?
While possible, it is rare for the signs of SWS to manifest in adulthood since this is a congenital condition, and symptoms like seizures often show before age 2.
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