Sturge-Weber syndrome
Encephalotrigeminal angiomatosis; SWS
Sturge-Weber syndrome (SWS) is a rare disorder that is present at birth. A child with this condition will have a port-wine stain birthmark (usually on the face) and may have nervous system problems.
This picture shows the soles of two feet involved with port wine stain. Port wine stains in the face may be seen in Sturge-Weber syndrome, which may also include glaucoma, retinal detachment, calcification of the outer layers of the cerebral cortex, and seizures.
Sturge-Weber syndrome is a disease that affects the skin and nervous system (neurocutaneous) and is associated with Port Wine Stain, red vascular markings on the face and other parts of the body (shown here on the legs). This is an unusual case, due to the large size of the lesion (extensive involvement). Occasionally seizures or learning disorders are also associated with Sturge-Weber syndrome.
Port wine stains are always present at birth. In an infant, they are flat, pink, vascular lesions. Common locations include the face and neck, but they may be present anywhere on the body. Port wine stains may appear in association with other syndromes.
Causes
In many people, the cause of Sturge-Weber is due to a mutation of the GNAQ gene. This gene affects small blood vessels called capillaries in some but not all body cells. Problems in the capillaries cause the port-wine stains to form.
Sturge-Weber is not thought to be passed down (inherited) through families.
Symptoms
Symptoms of SWS include:
- 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)
Exams and Tests
Treatment
Treatment is based on the person's signs and symptoms, and may include:
- Anticonvulsant medicines for seizures
- Eye drops or surgery to treat glaucoma
- Laser therapy for port-wine stains
- Physical therapy for paralysis or weakness
- Possible brain surgery to prevent seizures
Support Groups
More information and support for people with SWS and their families can be found at:
- The Sturge-Weber Foundation --
sturge-weber.org - National Organization for Rare Disorders --
rarediseases.org/rare-diseases/sturge-weber-syndrome/#supporting-organizations - NIH Genetic and Rare Diseases Information Center --
rarediseases.info.nih.gov/diseases/7706/sturge-weber-syndrome
Outlook (Prognosis)
SWS is usually not life threatening. The condition does need regular lifelong follow-up. The person's quality of life depends on how well their symptoms (such as seizures) can be prevented or treated.
The person will need to visit an eye doctor (ophthalmologist) at least once a year to treat glaucoma. They also will need to see a neurologist to treat seizures and other nervous system symptoms.
Possible Complications
These complications can occur:
- Abnormal blood vessel growth in the skull
- Continued growth of the port-wine stain
- Developmental delays
- Emotional and behavioral problems
- Glaucoma, which may lead to blindness
- Paralysis
- Seizures
When to Contact a Medical Professional
Seizures, vision problems, paralysis, and changes in alertness or mental state may mean the coverings of the brain are involved. These symptoms should be evaluated right away.
Prevention
There is no known prevention.
References
Dinulos JGH. Vascular tumors and malformations. In: Dinulos JGH, ed. Habif's Clinical Dermatology: A Color Guide to Diagnosis and Therapy. 7th ed. Philadelphia, PA: Elsevier; 2021:chap 23.
Flemming KD, Brown RD. Epidemiology and natural history of intracranial vascular malformations. In: Winn HR, ed. Youmans and Winn Neurological Surgery. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 451.
Islam MP, Roach ES. Neurocutaneous syndromes. In: Jankovic J, Mazziotta JC, Pomeroy SL, Newman NJ, eds. Bradley and Daroff’s Neurology in Clinical Practice. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 99.
Sahin M, Ullrich N, Srivastava S, Pinto A. Neurocutaneous syndromes. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 614.
Version Info
Last reviewed on: 11/1/2021
Reviewed by: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
