Users' questions 

Are you born with Sturge-Weber syndrome?

Leia Doyle

Are you born with Sturge-Weber syndrome?

Sturge-Weber syndrome (SWS) is a rare neurological condition that is present at birth and is not hereditary. Recently, researchers have found that the underlying cause of SWS is a somatic mosaic mutation in the GNAQ gene. SWS is often characterized by a port-wine birthmark on the child’s face.

How do you cure 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 are the symptoms of Sturge-Weber syndrome?

Symptoms

  • Port-wine stain (more common on the upper face and eye-lid than the rest of the body)
  • Seizures.
  • Headache.
  • Paralysis or weakness on one side.
  • Learning disabilities.
  • Glaucoma (very high fluid pressure in the eye)
  • Low thyroid (hypothyroidism)

How many people have Sturge-Weber syndrome?

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

Is Sturge-Weber syndrome fatal?

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?

Summary. Sturge-Weber syndrome (SWS) is a rare disorder characterized by the association of a facial birthmark called a port-wine birthmark, neurological abnormalities, and eye abnormalities such as glaucoma.

Is Sturge-Weber syndrome life expectancy?

Life expectancy is thought to be normal. No consistent cytogenetic abnormalities have been found in association with Sturge-Weber syndrome.

Is Sturge-Weber syndrome progressive?

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.

What causes Weber Syndrome?

Weber’s syndrome is a neurological condition caused by an injury to the midbrain, the uppermost section of the brain stem. It’s usually caused by a stroke (infarction), but in rare cases, Weber’s syndrome can also be caused by a brain tumor, a traumatic injury, or infection.

How do you test for Sturge-Weber syndrome?

How Is Sturge-Weber Syndrome Diagnosed?

  1. electroencephalography (EEG)
  2. genetic testing.
  3. an eye exam, usually done by an ophthalmologist. ophthalmologist.
  4. magnetic resonance imaging (MRI) scans.