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Sturge-Weber syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Sturge-Weber syndrome

Sturge-Weber syndrome is a congenital condition affecting the development of blood vessels, resulting in characteristic abnormalities in the brain, skin, and eyes.

Overview

Sturge-Weber syndrome is defined by three major features: a port-wine birthmark, a brain abnormality called a leptomeningeal angioma, and increased pressure in the eye (glaucoma). Not all individuals exhibit all three features, and severity varies significantly.

Symptoms

  • Port-wine birthmark: Caused by the enlargement of capillaries near the skin surface, usually appearing on the forehead, temple, or eyelid. It may darken or thicken over time.
  • Neurological: Leptomeningeal angiomas can impair blood flow to the brain, leading to tissue loss (atrophy) and calcium deposits (calcification). This may cause stroke-like episodes, focal seizures, muscle weakness, and cognitive impairment or learning disabilities.
  • Ocular: Glaucoma can develop in infancy or early adulthood, potentially causing vision impairment or bulging of the eyeball (buphthalmos). Abnormal blood vessels (hemangiomas) may also develop at the back of the eye.

Causes

The syndrome is caused by a somatic mutation in the GNAQ gene. This mutation occurs after conception and is not inherited. It results in an altered Gαq protein that disrupts signaling pathways, leading to the abnormal and excessive formation of blood vessels in specific parts of the body.

Inheritance

Sturge-Weber syndrome is not inherited. It is a mosaic condition, meaning the mutation occurs in a single cell during early development, and only the cells derived from that specific cell carry the mutation, while the rest of the body's cells do not.

Frequently Asked Questions

Pulsed‑dye laser (PDL) is the most widely used treatment; multiple sessions spaced 4–6 weeks apart can fade the color by 30‑70 %. For thicker lesions, combined PDL and Nd:YAG laser may be needed. Cosmetic improvement is gradual, and complete removal is rarely achieved.
First‑line therapy is antiepileptic medication tailored to seizure type. If seizures are refractory, options include epilepsy surgery (functional hemispherectomy or focal resection) after careful vascular imaging, vagus‑nerve stimulation, or ketogenic diet. Some centers also trial low‑dose aspirin to improve cerebral blood flow, though evidence is limited.
Initial management uses topical beta‑blockers or prostaglandin analogues to lower intra‑ocular pressure. If pressure remains uncontrolled, laser trabeculoplasty or trabeculectomy is performed, often before age 3 years to protect optic nerve development. Early surgical intervention is associated with better visual acuity preservation compared with delayed treatment.
If the birthmark involves the forehead or upper eyelid (V1 distribution) or if it is extensive, arrange a brain MRI with contrast before age 1 year. Even in the absence of seizures, early imaging helps detect leptomeningeal angiomas that may warrant neurologic monitoring.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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