What are the other Names for this Condition? (Also known as/Synonyms)

• Dimitri Disease
• Encephalotrigeminal Angiomatosis
• Sturge-Weber Phakomatosis

What is Sturge-Weber Syndrome? (Definition/Background Information)

• Sturge-Weber Syndrome (SWS) is a rare congenital disorder that affects the skin, particularly of the face and eyes, and the nervous system. It is distinguished by the presence of a “port-wine stain” or “port-wine birthmark”, a pink, red, or deep purple birthmark on the face and often upper eyelid, often limited to one side of the face
• Seizures, weakness, or loss of function on one side of the body, glaucoma, developmental delays, and proliferation of the abnormal blood vessels in the brain are certain other characteristic features of the disorder 
• Sturge-Weber Syndrome is diagnosed by observing its characteristic signs and symptoms and through various imaging techniques that helps evaluate any structural abnormalities in the brain. Ophthalmologic examination is also important to observe any defects in the eyes
• With appropriate medical treatment, the prognosis of Sturge-Weber Syndrome is generally good. Laser therapy can often help ablate the excessive and abnormally developed capillaries under the skin, which can improve outward appearance, potentially improving the individual’s self-confidence

Who gets Sturge-Weber Syndrome? (Age and Sex Distribution)

• Sturge-Weber Syndrome is congenital in nature, meaning it is present at birth
• The incidence rate of this rare condition ranges from 1 in 20,000 to 50,000 live births
• Worldwide, it affects males and females and all racial and ethnic groups

What are the Risk Factors for Sturge-Weber Syndrome? (Predisposing Factors)

• Presently, no specific risk factors are known for Sturge-Weber Syndrome. A family history of the disorder is not reported for SWS

It is important to note that having a risk factor does not mean that one will get the condition.  A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors.  Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition.  It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Sturge-Weber Syndrome? (Etiology)

Sturge-Weber Syndrome is a congenital (genetic) condition that is manifested at birth.

• A sporadic (random) mutation in the GNAQ gene, which produces a protein that is important in regulating blood vessel development, has been discovered as the cause of Sturge-Weber Syndrome
• Excessive cell division and development of capillaries (small blood vessels) occurs under the skin, often on one side of the face, in the sclera of the eye as well as in the vessels supplying the retina of the eye, and in the tissue covering the surface of the brain, particularly toward the top and back, and even in the surface of the brain tissue itself
• These vessels can be of varying shapes and diameters, contributing to differing symptoms within the same individual
• The increased presence of blood under the skin causes discoloration, and increased blood or fluid pressure causes most of the other associated signs and symptoms

Sturge-Weber Syndrome is not known to be inherited from one generation to another generation. It is sometimes described as a neurocutaneous syndrome (or phakomatosis), as the neurological system is affected, and a presence of cutaneous melanocytic lesions is noted.

The same mutation that causes Sturge-Weber Syndrome is sometimes found in individuals without the condition (non-syndromic cases). in such individuals, usually only the birthmark is noted. It is thought that the mutation likely occurs or develops later in these cases, such that it affects fewer cell types and thereby not causing the entire spectrum of signs and symptoms associated with the syndrome.

What are the Signs and Symptoms of Sturge-Weber Syndrome?

Some of the signs and symptoms of Sturge-Weber Syndrome are observed in newborns. The other signs and symptoms can present later in life and each case is unique; the condition may significantly vary from one individual to another.

The signs and symptoms of Sturge-Weber Syndrome may include:

• Birthmarks that are present at birth in many children, or develop shortly after; generally, they do not develop later in life
• Seizures usually begin in the first year of life
• Children can often experience recurrent stroke-like episodes as blood pools in the abnormal vessels and does not supply all areas of the brain
• Other neurological symptoms, such as headaches, usually occur in late childhood or early adulthood
• Cognitive, behavioral, and other developmental delays can occur very early, sometimes because of seizures
• Glaucoma may occur either in infancy or early childhood but can also develop later

The signs and symptoms more specifically affect three general areas of focus, even though they are all thought to be ultimately caused by vascular malformation with hyperplasia (overgrowth) of capillaries. These may be described as:

• Neurological signs and symptoms:
  • Seizures: Abnormal electrical activity in the brain, often leading to uncontrolled jerking of the body. The seizures usually occur by the time the baby is one year old; generally, occurring on the side opposite to the birthmark (one side of the brain is affected)
  • Paralysis on one side of the body (hemiparesis); again, usually on the side opposite to the birthmark
• Ocular/ophthalmologic signs and symptoms:
  • Redness of the sclera (white) of the affected eye, on the same side as the birthmark, can sometimes occur due to increased vasculature in the sclera
  • Glaucoma: Increase in fluid pressure in the eye which causes nerve fiber damage and blindness
  • Hydrophthalmos: Increased fluid pressure can cause a fluid buildup in the eye, which can sometimes lead to hydrophthalmos, or enlargement of the eye, which then leads to protrusion of the eye (exophthalmos)
• Dermatologic signs and symptoms:
  • Port-wine stain that affects normally one side of the face, including the eyelid, and the sclera of the eye, as can other regions of skin on the affected side, such as the soles of the feet
  • In very rare cases, Sturge-Weber Syndrome may involve both sides of the face, and it may occur without the birthmark

Other symptoms that can occur include:

• Developmental or learning delays; rarely, mental retardation is observed
• Behavioral problems
• Headaches, often migraine in nature
• In severe cases, other internal organs may be affected

How is Sturge-Weber Syndrome Diagnosed?

Sturge-Weber Syndrome is typically diagnosed using the following tests and exams:

• Obtaining a medical history (pregnancy history in the case of a newborn) and performing a complete physical examination
• Assessment of the signs and symptoms: The diagnosis is primarily based on checking the individual for the signs and symptoms of Sturge-Weber Syndrome including
  • Facial port-wine birthmark
  • Glaucoma
  • Abnormal blood vessels in the eye, the brain, or the tissues surrounding the brain
• Neurologic, ophthalmologic, and dermatologic evaluations and reports by specialists in those fields also form the basis for diagnosing Sturge-Weber Syndrome.Even though the birthmark may not be present right at birth, it often presents shortly thereafter
• Other tests that may be performed include:
  • CT and MRI scans primarily of the brain, to look for abnormal vascularity and other damage to the region
  • X-ray studies to study internal structures and organs

Many clinical conditions can have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.  

What are the possible Complications of Sturge-Weber Syndrome?

Some of the complications associated with Sturge-Weber Syndrome include:

• Hemiparesis or hemiparalysis: Weakness or loss of motor function on one side of the body, usually opposite the birthmark (if localized to one side)
• Glaucoma: High fluid pressure in the eyes that can cause structural damage and lead to blindness, if not diagnosed and treated early
• Physical and cognitive/mental developmental delay
• Mental retardation
• Recurrent migraine headaches
• Emotional and behavioral problems
• Inadequate blood supply to the sagittal sinus (a region in the brain)
• Structural and/or functional complications of various internal organs: A specifically known example that is relatively common is increased risk for developing angiomyolipoma of kidney, a benign tumor of kidney composed of various extrarenal (non-kidney) cell types

Complications may occur with or without treatment, and due to treatment also.

How is Sturge-Weber Syndrome Treated?

There is no cure for Sturge-Weber Syndrome, but the condition is typically non-lethal. There are various treatment measures to address the symptoms that have shown varying degrees of success.

• Laser therapy can attempt to remove the birthmark; however, this is not always 100% effective, as sometimes the capillaries continue to grow (or regrow)
• Controlling elevated eye pressure, or glaucoma, may be achieved through the use of eye drops and annual eye check-ups
• In severe cases, surgical help may be required for other eye conditions
• Physical therapy is recommended to help strengthen weak muscles
• Individualized attention is given to children with developmental delays so that they can cope with their early life (education and social life)
• Anticonvulsant medications may be prescribed for controlling seizures
• Hemispherectomy (surgery to remove one hemisphere, or one side of the brain) is recommended if seizures cannot be controlled through medications. Sometimes, more localized surgery can be done to preserve as much brain tissue as possible. This treatment is done in extremely rare cases, when the signs and symptoms does not get better through other less invasive interventions

How can Sturge-Weber Syndrome be Prevented?

Currently, there are no specific prevention methods or guidelines available for Sturge-Weber Syndrome.

What is the Prognosis of Sturge-Weber Syndrome? (Outcomes/Resolutions)

Though Sturge-Weber Syndrome is presently incurable, it is generally not life-threatening, as most cases present mild signs and symptoms.

• Prognosis differs among individuals but depends primarily on the severity of the condition, and on how well symptoms can be prevented or controlled
• Newborn children with bilateral brain involvement and very early onset of seizures can have severe developmental, cognitive, and neurological disabilities

Death may occur in very rare cases if the complications are severe.

Additional Relevant and Useful Information for Sturge-Weber Syndrome:

Some research has been done to show that the areas of the brain most affected by the changes in blood flow will often have changes (usually decreases) in metabolism that contribute to the subsequent incidence of seizures in the individual.In some individuals, histopathologic evidence exists of neurological remodeling in unaffected areas of the brain (bolstering of healthy tissue) to try to maintain normal functionality.