People with Sturge-Weber syndrome (SWS) have a characteristic birthmark occurring on their face and it’s known as port wine stain. The birthmark is due to abnormalities in blood vessels. At times, the birthmark may not be present. Sturge-Weber syndrome (SWS) is considered a rare disorder occurring at time of birth but it doesn’t run in families. People with the disorder may also have abnormalities in brain blood vessels something known as leptomeningeal angiomas.

A patient may have other characteristic features like muscle weakness, seizures, glaucoma, developmental delay, paralysis, and intellectual disability. The syndrome arises due to a mutation within the GNAQ gene but usually it is not inherited but occurs randomly by chance. Usually cells within a developing embryo mutate to cause the syndrome. Most of the kids who have this disorder tend to lead a normal life but their survival period depends on how severe the disease is.

 

Sturge Weber syndrome Symptoms

People with the disorder have various symptoms which differ from one individual to another. The Human Phenotype Ontology (HPO) has created a database showing symptoms of Sturge Weber syndrome. About 80 to 99 percent of persons with the disorder have symptoms like:

• Seizures
• Capillary hemangiomas

 

About 30 to 79 percent of persons with the condition have symptoms like:

• Hyperreflexia or increased reflexes
• Glaucoma
• Attention deficit hyperactivity

 

Other symptoms include:

• Severe learning impairment
• Paralysis or weakness occurring on one side of a person’s body

The formation of excess blood vessels on brain’s surface may cause problems with the normal function of the brain. A person may have seizures that involve both body sides but mostly they are witnessed on the opposite side to the birthmark. It is likely for the seizures to become worse as an individual grows in age, but they mostly begin in infancy. A person with Sturge Weber syndrome may experience hemiparesis that occurs on one side of their body. In some cases, a person’s intellectual and physical development may be impaired. Having hemiparesis may also make an individual to have stroke or transient ischemic attacks. It is normal for the patients to have migraine headaches.

The port wine stain birthmark seen in people with Sturge Weber syndrome forms dark, red, or purple skin and it usually involves the forehead and eyelid. Although the stain occurs on the face, it can still form in any body part. Also, the stain has distinctly formed borders and its size and color differ. In persons having a darker skin pigment, the stain tends to be difficult to recognize.  Although at birth, the stain’s surface is much more flat, with time, it becomes more pronounced.

The mark arising from overabundance or excessive growth of blood capillaries is usually distributed within the innervations zone of a person’s trigeminal nerve.  Not treating port wine stain can result in skin ulcers or even burst. A patient may have social problems and emotions related to the growth.

 

 

Classification of Sturge Weber Syndrome

 There are three types of Sturge Weber syndrome as indicated by Dr. Steve Roach and they include:

• Type I – This is the most common type and it presents with brain and skin vascular malformations. A person with this type of the disorder may have eye abnormalities such as glaucoma. During the first year after birth, a child has seizures due to the involvement of the brain. Also, eye anomalies are diagnosed during this time. Depending on the severity of vascular malformations within the brain, physical and mental development may be impaired.
• Type II- This usually manifests with symptoms like the port wine stain, however, there are no other inherent symptoms at time of birth. Usually, there is no involvement of brain tissue. With time, a patient may develop other symptoms like glaucoma or disturbances in flow of blood to the cerebral area.
• Type III- This involves the brain but there is no glaucoma or facial mark

 

Diagnosing Sturge Weber Syndrome

 

If a child is suspected to have the disorder at birth, diagnosis for glaucoma is required. Glaucoma can advance so quickly in infants, so diagnosing a child of this eye problem is important to prevent loss of vision. Imaging tests may be required and they include:

 

Radiography: Having radiography in the kid’s skull may present signs of cortical calcifications and lack of filling in dural sinuses.

 

Angiography:  This test can show abnormal growths of blood vessels as well as drainage occurring from the veins

 

MRI or magnetic resonance imaging:  This imaging tests uses a contrast dye known as gadolinium to help get detailed images of blood vessels along with the brain tissue. A person with the illness may have hyperperfusion, cortical atrophy, and accelerated myelination.

 

CT scan: Having computed tomography scans can reveal brain structures in a cross-sectional way. The images can show signs of enlarged choroid plexus, calcifications, and venous sinus occlusion. Enlarged choroid plexus involves the formation of a blood vessel in the person’s brain.

 

 

Sturge Weber Syndrome  Treatment

Treatment may involve use of different therapies and medications to help relieve symptoms.

• A patient may be prescribed anticonvulsants to help control seizure activity
• An individual may be administered pain medication if they are having headaches
• To treat glaucoma, medications may be prescribed but they tend to fail with time leaving surgery as the only effective treatment
• The port wine stains can be treated through use of laser therapy
• If there is severe epileptic activity, a patient may require brain surgery
• Hemispherectomy may be done if there is a large, unilateral epileptogenic area formed
• For small epileptogenic regions causing seizures, a cortical resection may be done.

 

In children aged more than 10 years, having a large facial port wine stain can bring about mood and social problems. Pulsed dye laser or PDL is the preferred treatment in most of kids having port wine stain. The treatment can produce good results and presents reduced cases of skin changes or side effects. An upside with laser treatment is that it reduces the psychological problems that come with port wine stains. As long as anticonvulsant therapy is applied appropriately, the use of pulsed dye laser in kids with Sturge-Weber syndrome presents little risk. That said, proper care is needed when performing the laser procedure.

 

 

Sturge Weber Syndrome Life Expectancy

The prognosis and life expectancy of kids with Sturge-Weber syndrome largely depend on the severity of the illness. Most of the kids tend to lead a normal life but where there is significant effect brought about by brain involvement, the life expectancy may be reduced because of the complications involved such as frequent infections and lung problems. Presence of seizures also affects the prognosis and life expectancy. Even with the available treatment to help manage symptoms and complications, kids who have the illness have some kind of disability. Most of them have learning disability which may be severe or mild.

The extent of brain angiomas has a direct correlation to the life expectancy in children who have Sturge Weber syndrome. Extensive brain angioma, early seizure onset, progressive neurological damage, permanent motor deficit, and progressive atrophy are some of the prognostic factors that may have an impact on the life expectancy. Although life expectancy is considered normal, it largely depends on the way the symptoms are managed.