Sturge Weber Syndrome (SWS) is a rare neurological disorder that is present at birth. It is characterized by a port-wine stain on the face, seizures, and glaucoma. It is caused by a mutation in the GNAQ gene, which is responsible for controlling the flow of calcium in and out of cells. Other symptoms may include intellectual disability, developmental delays, and vision problems. Treatment typically includes medications to control seizures, laser therapy to reduce the port-wine stain, and surgery to reduce intraocular pressure.

Common symptoms of Sturge Weber Syndrome include:

-Port-wine stain birthmark on the face, scalp, or neck

-Seizures

-Developmental delays

-Mental impairment

-Weakness or Paralysis on one side of the body

-Vision problems, including glaucoma

-Headaches

-Speech difficulties

-Difficulty swallowing

-Hearing loss

-Abnormalities of the teeth and jaw

-Skin thickening or discoloration

-Bone and joint abnormalities

-Growth delays

-Behavioral problems

Sturge Weber Syndrome is a rare neurological disorder caused by a genetic mutation. The exact cause of the mutation is unknown, but it is believed to be caused by a spontaneous mutation in the GNAQ gene. It is not inherited and is not caused by anything the parents did or did not do.

The treatments for Sturge Weber Syndrome vary depending on the individual and the severity of the condition. Generally, treatments may include medications to reduce seizures, laser therapy to reduce port-wine stains, physical therapy to improve mobility, and surgery to reduce the size of the affected area. Other treatments may include speech therapy, occupational therapy, and psychological counseling.

The most common risk factor for Sturge Weber Syndrome is a genetic mutation in the GNAQ gene. Other risk factors include a family history of the condition, being of Ashkenazi Jewish descent, and having a mother who had a fever during pregnancy.

There is no cure for Sturge Weber Syndrome, but there are medications that can help manage the symptoms. These include medications to reduce seizures, medications to reduce glaucoma, and medications to reduce the risk of stroke. Additionally, physical and occupational therapy can help improve mobility and function.