People with Sturge-Weber Syndrome (SWS) may demonstrate a loss of brain tissue in the areas of the brain affected by the syndrome. On MRI or CT, these regions look smaller than normal areas of the brain. 

Infants with increase pressure in the eye may have enlargement or bulging in the affected eye. Buphthalmia can threaten vision and is a serious sign. Babies with an enlarged eye should see an ophthalmologist as soon as possible. 

Cognitive Disability
Patients with Sturge-Weber syndrome may develop cognitive disability and have limitations in mental functioning. Formal diagnosis and treatment in neuropsychology may help patients reach their full potential.

CT (Computed Tomography)
CT scans are best for showing the calcifications present in the brains of some people with SWS. They can also demonstrate atrophy. However, CT scans cannot directly demonstrate the abnormal blood vessels that characterize SWS. MRI with contrast is the preferred method for this. 

EEG (Electroencephalogram)
By affixing metal electrodes to the scalp using harmless paste, we can record brain activity while a person is awake or asleep. The patterns of activity in the brain may reveal important information about seizures, headaches, or general neurologic dysfunction. 

Epilepsy refers to the occurrence of repeated seizures not triggered by a specific acute stimulus such as fever or head trauma. Seizures eventually develop in about 80% of patients with SWS, most commonly in the first year or two of life. 

Glaucoma is vision loss resulting usually from increased pressure in the eye. Glaucoma occurs in 30-70% of patients with SWS. 

GNAQ Mutation
Studies report that mutation in the gene GNAQ is most commonly associated with Sturge-Weber Syndrome. However, recent research suggests that other gene mutations may also be related to SWS.

Hemiparesis is a muscle weakness or partial paralysis on one side of the body and can affect the arms, legs, and facial muscles.

Leptomeningeal vascular abnormality in SWS
Leptomeningeal is the presence of numerous abnormally dilated blood vessels on the surface of the brain. These abnormal blood vessels frequently result in abnormal blood flow (perfusion) to the involved side of the brain. Impaired brain perfusion, in turn, can result in brain injury, seizures, stroke-like episodes, and developmental delays. 

Migraine headache
Migraine headaches are long (several hours or days), moderate or severe, and may be throbbing, one-sided or bi-frontal, accompanied by visual symptoms, nausea, weakness on one side of the body, difficulty speaking, and/or sensitivity to light/sound. 

MRI (Magnetic Resonance Imaging)
MRI provides the clearest picture of the brain by using powerful magnets. Contrast must be given through an IV to make blood vessels show clearly. Investigators at the JHKKISWS Center are studying the most current MRI technology for use in people with SWS. Find out more about MRI research . We are also able to perform standard clinical MRI scans.

Port-wine birthmark
Port-wine birthmarks are the most common kind of abnormality of blood vessel development and involves dilated capillaries in the skin. PWS may occur anywhere on the body; however, the risk of brain or eye involvement is very low if the PWS is located anywhere other than the upper face. 

Somatic Mutation​​​​​​​
SWS involves somatic mutation. This means that the mutation that is associated with SWS is not passed to the next generation.

Stroke-like episodes
A stroke/SLE is the sudden onset of weakness on one side of the body that lasts 12 hours or more. This may or may not follow a seizure or headache. Sometimes, the weakness or impaired function may last months or even be permanent in people with SWS. 

Sturge-Weber syndrome
Sturge-Weber syndrome (SWS) is a disorder involving the association of a facial port-wine birthmark with glaucoma and abnormal blood vessels on the surface of the brain. The facial port-wine birthmark is present from birth and when it ocurrs on the forehead and/or upper eyelid (ophthalmic distribution) is associated with an increased risk (20-50%) of the full syndrome. SWS can involve one side of the head (unilateral) or both sides (bilateral). Infants with Sturge-Weber Syndrome are at increased risk of developing, epilepsy, developmental delays, mental retardation, weakness on a side of the body (hemiparesis), and vision loss. 

Visual field cut (homonymous hemianopsia)
Due to abnormal blood vessels in people with SWS affecting the occipital lobe of the brain (responsible for processing visual information), vision may be compromised. A person with a visual field deficit cannot see things in certain parts of their visual field.