Sturge–Weber syndrome (SWS) is a rare neurocutaneous disorder caused by post-zygotic somatic mutations, usually involving GNAQ. It can affect the skin, brain and eyes. Neurological involvement may include seizures, stroke-like episodes, headaches and developmental or cognitive difficulties.
What defines Sturge–Weber syndrome?
Modern consensus describes SWS through combinations of facial capillary malformation, leptomeningeal vascular malformation and ocular involvement. Not every person has all features.
Why seizures occur
Leptomeningeal vascular malformations can alter blood flow and oxygen delivery to the underlying cortex. Over time, affected brain tissue can develop calcification, atrophy and abnormal excitability that contribute to seizures.
When epilepsy begins
Seizures often begin in infancy or early childhood, although timing varies. Focal seizures are common and may become prolonged or cluster in some children.
Stroke-like episodes
Transient weakness, visual symptoms or other focal deficits can occur in SWS and may resemble stroke or postictal deficits. These episodes need specialist assessment because several mechanisms may be involved.
Imaging
Contrast-enhanced MRI is central to evaluating brain involvement. Susceptibility-sensitive sequences, perfusion imaging and other techniques may provide additional information. CT can demonstrate calcification but is not usually the sole imaging test for ongoing assessment.
Treatment
Management is individual and may include antiseizure medicines, headache treatment, ophthalmological care, rehabilitation and neuropsychological support. Drug-resistant epilepsy can lead to evaluation for epilepsy surgery in selected patients.
Why multidisciplinary care matters
SWS can involve neurology, neurosurgery, dermatology, ophthalmology, psychology, rehabilitation and primary care. A 2025 multidisciplinary consensus emphasised coordinated follow-up across these domains.
Related reading
Epilepsy phenotype
Seizures in Sturge–Weber syndrome usually arise from cortex affected by leptomeningeal vascular malformation. Focal seizures are common and can be prolonged, cluster during illness or evolve to bilateral tonic-clonic seizures. Earlier seizure onset and extensive brain involvement are generally associated with greater neurological burden.
Stroke-like episodes are not always seizures
Transient weakness, visual symptoms or altered function can occur through vascular and perfusion mechanisms as well as epilepsy. EEG, imaging and clinical context may be needed to distinguish an ictal event from a stroke-like episode.
Imaging and ophthalmology
Contrast-enhanced MRI helps define leptomeningeal angiomatosis, cortical atrophy, calcification and venous abnormalities. Glaucoma can accompany facial capillary malformation and requires lifelong ophthalmic attention.
When surgery is considered
Drug-resistant unilateral epilepsy with a clearly affected hemisphere may be evaluated for focal resection, posterior disconnection or hemispheric surgery depending on the extent of disease and functional anatomy. Surgery is not determined by the skin birthmark alone.
Beyond seizures
Motor impairment, visual-field deficits, headaches, learning difficulties and neurodevelopmental or behavioural problems may require multidisciplinary care. Management therefore extends beyond antiseizure medication.
Sources and further reading
- Multidisciplinary, multicenter consensus for the care of patients affected with Sturge-Weber syndrome. 2025. PMID: 39819452.
Evidence checked: September 2026.