Sturge-Weber syndrome

Alternate names

SWS; Sturge Weber syndrome; Encephalotrigeminal angiomatosis; Fourth phacomatosis; Meningeal capillary angiomatosis; Leptomeningeal angiomatosis; Encephalofacial angiomatosis; SWS type I - Facial and leptomeningeal angiomas; SWS type II - Facial angioma alone, no CNS involvement; SWS type III - Isolated leptomeningeal angiomas

Definition

(sterj-VAY-ber SIN-drome) A rare, congenital disorder that affects the brain, skin, and eyes. Abnormal blood vessel growth occurs in the trigeminal nerve in the face and the meninges (covering) of the brain. This abnormal growth causes red or purple skin discoloration (sometimes called a port wine stain) , usually on one side of the face, and can also cause seizures, learning disabilities, and glaucoma. Also called SWS.

Summary

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.

Epidemiology

Sturge-Weber syndrome is estimated to affect 1 in 20,000 to 50,000 individuals.

Cause

Sturge-Weber syndrome is caused by a mutation in the GNAQ gene. This gene provides instructions for making a protein called guanine nucleotide-binding protein G(q) subunit alpha (Gαq). T he Gαq protein is part of a group of proteins (complex) that regulates signaling pathways to help control the development and function of blood vessels.

Gene mutations

• The GNAQ gene mutation that causes Sturge-Weber syndrome results in the production of a protein with impaired function.
• As a result, the altered Gαq protein cannot play its part in regulating signaling pathways, resulting in abnormally increased signaling.
• The enhanced signaling likely disrupts the regulation of blood vessel development, causing abnormal and excessive formation of vessels before birth in people with Sturge-Weber syndrome.

Inheritance

• Sturge-Weber syndrome is not inherited. The mutation that causes this disorder is somatic, which means it occurs after conception.
• In Sturge-Weber syndrome, the mutation is thought to occur in a cell during early development before birth.
• As that cell continues to grow and divide, the cells derived from it, specifically certain cells in the brain, eyes, and skin that are involved in blood vessel formation, also have the mutation, while the body's other cells do not.
• This situation is called mosaicism.
• The mosaic nature of the mutations helps to explain why the abnormal blood vessel growth occurs in some parts of the body but not in others.

Signs and symptoms

• Babies with Sturge-Weber syndrome (SWS) are born with a facial birthmark known as a port-wine stain.
• The color can range from dark red to light pink and it is usually found on one side of the face.
• In addition, people with SWS have abnormal growth of blood vessels within the tissue that covers the brain and spinal cord (leptomeningeal angioma). These angiomas can lead to decreased blood flow to the brain, which in turn can cause strokes, seizures, headaches and muscle weakness.
• 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.

Clinical presentation

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Capillary hemangioma(Strawberry birthmark)
• Seizure

30%-79% of people have these symptoms

• Attention deficit hyperactivity disorder(Attention deficit)
• Glaucoma
• Hyperreflexia(Increased reflexes)
• Intellectual disability(Mental deficiency)
• Optic atrophy
• Strabismus(Cross-eyed)
• Stroke

5%-29% of people have these symptoms

• Abnormal choroid morphology
• Abnormal retinal vascular morphology(Abnormality of retina blood vessels)
• Arnold-Chiari malformation
• Autistic behavior
• Blindness
• Cerebral calcification(Abnormal deposits of calcium in the brain)
• Cerebral cortical atrophy
• Decrease in size of the outer layer of the brain due to loss of brain cells
• Conjunctival telangiectasia
• Small dilated blood vessels near membrane covering front of eye and eyelids
• Corneal dystrophy
• Dysphagia(Poor swallowing)
• Gingival overgrowth(Gum enlargement)
• Hearing abnormality(Abnormal hearing)
• Hemianopia
• Heterochromia iridis(Different colored eyes)
• Hydrocephalus(Too much cerebrospinal fluid in the brain)
• Hyperostosis(Bone overgrowth)
• Iris coloboma(Cat eye)
• Macrocephaly(Increased size of skull)
• Neurological speech impairment(Speech disorder)
• Pulmonary embolism(Blood clot in artery of lung)
• Retinal detachment(Detached retina)
• Venous thrombosis(Blood clot in vein)
• Visceral angiomatosis

Diagnosis

• Sturge-Weber syndrome (SWS) is diagnosed based on the symptoms.
• 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.
• An MRI of the brain is often done to look for abnormal clusters of blood vessels.
• 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.

Treatment

There is no specific treatment for Sturge-Weber syndrome (SWS). Treatment is based on the person's signs and symptoms, and may include:

• Anticonvulsant medicines for seizures
• Eye drops or surgery to treat glaucoma
• Laser therapy for port-wine stains
• Physical therapy for paralysis or weakness
• Possible brain surgery to prevent seizures

Prognosis

• The symptoms of Sturge-Weber syndrome tend to get worse with age.
• 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.
• More severe seizures at an early age are associated with an increased chance for developmental and intellectual disability.
• Adults with SWS may have psychological issues that require additional intervention.

sturge_weber at NINDS

NIH genetic and rare disease info

• NIH info on Sturge-Weber syndrome

Sturge-Weber syndrome is a rare disease.

Sturge-Weber syndrome Resources
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