- Signs and symptoms. Sturge–Weber syndrome is usually manifested at birth by a port-wine stain on the forehead and upper eyelid of one side of the face, or the whole face.
- Treatment. Treatment for Sturge–Weber syndrome is symptomatic. Laser treatment may be used to lighten or remove the birthmark.
- Epidemiology. It occurs in approximately 1 in 50,000 newborns. It is named for William Allen Sturge and Frederick Parkes Weber.
- Society and culture. The Sturge-Weber Foundation's (The SWF) international mission is to improve the quality of life and care for people with Sturge–Weber syndrome and associated port wine birthmark conditions.
What is the treatment for Sturge-Weber syndrome?
Treatment for Sturge-Weber syndrome is symptomatic. Laser treatment may be used to lighten or remove the birthmark. Anticonvulsant medications may be used to control seizures. Persons with drug-resistant seizures may be treated by surgical removal of epileptic brain tissue.
What is Sturge Weber syndrome?
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.
What are the symptoms of Sturge-Weber syndrome?
What Are 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.
What is the efficacy of hemispherectomy in the treatment of Sturge-Weber syndrome?
A couple of published series of approximately 20 patients with Sturge-Weber syndrome demonstrate that hemispherectomy is very successful (approximately 90% effective) in eliminating seizures in most cases.
Does Sturge-Weber have a cure?
SWS gene mutations occur sporadically (for no clear reason). There is no proven way to prevent Sturge-Weber syndrome.
Is Sturge-Weber syndrome life threatening?
Sturge-Weber syndrome is a congenital disorder that affects the skin, the neurological system, and sometimes the eyes. There is no cure, but it is not fatal. Other names include encephalotrigeminal angiomatosis, encephalofacial angiomatosis, or Sturge-Weber-Dimitri syndrome.
What is Sturge-Weber syndrome symptoms?
Sturge-Weber syndrome has three major features: a red or pink birthmark called a port-wine birthmark, a brain abnormality called a leptomeningeal angioma, and increased pressure in the eye (glaucoma ). These features can vary in severity and not all individuals with Sturge-Weber syndrome have all three features.
Is Sturge-Weber syndrome a disease?
General Discussion. Sturge-Weber syndrome (SWS) is a rare vascular disorder characterized by the association of a facial birthmark called a port-wine birthmark, abnormal blood vessels in the brain, and eye abnormalities such as glaucoma.
Does Sturge-Weber get worse?
Outlook. Sturge-Weber syndrome is a slowly progressive condition. This is because the abnormal blood vessels affect the blood supply to the brain. As the person gets older, the blood flow to the brain through the abnormal blood vessels can become less.
Can you have half your brain removed?
A hemispherectomy is a rare surgery where half of the brain is either removed or disconnected from the other half. It's performed on children and adults who have seizures that don't respond to medicine.
What causes Sturge-Weber?
In many people, the cause of Sturge-Weber is due to a mutation of the GNAQ gene. This gene affects small blood vessels called capillaries. Problems in the capillaries cause the port-wine stains to form. Sturge-Weber is not thought to be passed down (inherited) through families.
What does Sturge mean?
Sturge is a Middle Ages surname of Norse-Viking origins, meaning son of Turgis or Thurgis, Turgeus etc., which meant "Thor's follower".
Which nerve is involved in Weber Syndrome?
Weber syndrome is a midbrain stroke characterized by crossed hemiplegia along with oculomotor nerve deficits.
What are the complications of Sturge-Weber syndrome?
Additionally, 25 percent of those children have full seizure control, 50 percent have partial seizure control, and 25 percent have no seizure control from medication.
What tests are done to check for SWS?
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.
When does SWS start?
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.
What is the name of the disease that is marked by a port-wine stain on the forehead?
What is Sturge-Weber syndrome? 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.
What are the symptoms of Sturge-Weber syndrome?
They may also have increased pressure in the eyes known as glaucoma. [1] [2] [3] Other symptoms of SWS may include seizures, muscle weakness, ...
What causes SWS?
SWS is caused by a mutation in the GNAQ gene. [4] . The gene mutation is not inherited, but occurs by chance in cells of the developing embryo. [1] [4] SWS is diagnosed based on the symptoms. Imaging studies, such as an MRI or CT-scan, are also used to aid in the diagnosis.
How to tell if a baby has SWS?
[5] [6] The first sign that suggests that a baby might have SWS is the presence of the port-wine birthmark on the face. Not all children with port-wine birthmarks have SWS. [2] An MRI of the brain is often done to look for abnormal clusters of blood vessels. [5] Other types of imaging may be done as well. In addition, a neurology and ophthalmology examination can be helpful. A brain wave test known as an electroencephalogram (EEG ) may be done to look at the brain’s electrical activity. [5]
What is PubMed or Orphanet?
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. PubMed is a searchable database of medical literature and lists journal articles that discuss Sturge-Weber syndrome. Click on the link to view a sample search on this topic.
When do seizures start?
Most children develop seizures by age 2. Increased pressure in the eyes ( glaucoma) may be diagnosed at birth, during childhood or adulthood. Some people with SWS have developmental and intellectual impairment. The symptoms and severity of SWS vary from person to person, and typically get worse over time.
Is Sturge Weber syndrome inherited?
The mutation in the GNAQ gene that causes Sturge-Weber syndrome is not inherited. [3] . It occurs very early in embryo development and is found in only specific cells of the body. These types of gene mutations are known as somatic gene mutations. The reason that somatic gene mutations occur is unknown.
Does SWS get worse with age?
Listen. The symptoms of Sturge-Weber syndrome tend to get worse with age. [7] [6] However, most people with SWS have mild symptoms which are not life-threatening. The long-term outlook varies depending on the severity of symptoms, and how well seizures and glaucoma can be controlled or prevented.
Signs and symptoms
Epidemiology
- 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. According to Johns Hopkins Medicine, 8…
Symptoms
- 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. In some children, abnormal vessels dont cause any symptoms. In others, they can cause the following symptoms: SWS can affect children in different ways. Some children may ex…
Cause
- Though SWS is present at birth, it isnt an inherited condition. Instead, its 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 babys head. Normally, this network goes away in the ninth week of devel…
Diagnosis
- 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 childs doctor suspects that your child may have SWS, theyll order imaging tests, such as CT and MRI scans. These tests produce detailed images of the brai…
Treatment
- Treatment for SWS can vary depending on the symptoms a child is experiencing. It may consist of: If your child wishes to reduce the appearance of a port-wine stain, laser treatments may be used. Its important to note, however, that these treatments may not completely remove the birthmark.
Pathophysiology
- 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.