Sturge-Weber Syndrome is a neurological disorder indicated at birth by a large port-wine stain on the forehead and upper eyelid on at least one side of the face. This Syndrome is usually used as a diagnosis when there is the PWS, glaucoma, and seizures. Sturge-Weber is often accompanied by loss of nerve cells and calcification of the brain on the same side of the body as the birthmark. Neurological symptoms begin in infancy and sometimes worsen with age. Usually if the child does not develop seizures by the time they are two years of age, they will not develop them, and they may not have brain involvement. Only an MRI can determine if there is any brain involvement. Children are sometimes diagnosed with SWS (as Reese is) because they have a PWS and glaucoma, but have no seizures, and possibly no brain involvement. We won't know for sure until we get her home and have an MRI done.
Seizures usually occur on the side of the child opposite the birthmark; there may also be muscle tone loss on the same side as the seizures. Children with seizures (particularly before the age of two) and brain involvement are at a higher risk for physical and mental delays. Children with glaucoma that is unmanaged may have their eye bulge out of the socket due to increased pressure in the eye. SWS rarely effects any organ outside of the eyes and brain, if those.
There is no cure for SWS. Treatment is symptomatic. Laser treatments are common to lighten birthmarks, or even possibly remove it. Anticonvulsant medications are used to control seizures. It may take several tries and combinations to find a medicine and concentration to manage a child's seizures. Eye drops can usually be used to manage eye pressure, but sometimes surgery is required to manage the pressure if it gets to high. Physical therapy may be needed for children and infants with muscle weakness, and educational assistance and therapy may be needed for those with mental delays. At least a yearly evaluation is recommended to manage and notice any development of glaucoma.