Sturge-Weber syndrome
SWS; encephalotrigeminal angiomatosis; neuro-oculo-cutaneous angiomatosis
Sturge-Weber syndrome is a sporadic neurocutaneous vascular condition defined by the triad of facial V1 port-wine stain, leptomeningeal capillary-venous malformation (which causes seizures, hemiparesis and cognitive impairment), and glaucoma. It is caused by a somatic mosaic mutation in GNAQ R183Q (the same mutation responsible for non-syndromic port-wine stains) — the syndrome occurs when the mutation arises early enough in development to affect neuroectodermal and ocular as well as cutaneous tissues. Management is multidisciplinary — neurology (seizure control, low-dose aspirin), ophthalmology (glaucoma surveillance / treatment), dermatology (PDL of PWS) — with early intervention substantially improving long-term outcomes.
Classical triad
- Facial V1 port-wine stain — forehead and upper eyelid; ipsilateral to other features; can extend into V2 / V3. Bilateral facial PWS rarely indicates bilateral SWS.
- Leptomeningeal angiomatosis — capillary-venous malformation in the pia mater overlying the cerebral cortex, ipsilateral to facial PWS. Underlying cortex develops chronic hypoperfusion, gliosis and dystrophic calcification ("tram-track" calcification on imaging).
- Ocular abnormalities — glaucoma (~30–70%, peaks ~60%); choroidal angioma; buphthalmos in early-onset glaucoma. Same side as facial PWS.
Neurological features
- Seizures — onset in infancy or early childhood; focal motor in 75–90%; status epilepticus / hemiparesis episodes; refractory in up to 40%.
- Hemiparesis — progressive hemiparesis contralateral to the facial PWS / affected hemisphere, developing in childhood.
- Cognitive impairment — present in ~ 50%; correlates with seizure burden and bilateral SWS.
- Migraine-like headaches, stroke-like episodes.
- Refractory seizures benefit from neurosurgical hemispherectomy in selected cases.
Ocular features
- Glaucoma develops in 30–70% — bimodal age of onset: infancy (buphthalmos) and adulthood.
- Choroidal angioma — may cause exudative retinal detachment, visual loss.
- Heterochromia iridis ipsilateral to PWS.
- Lifelong ophthalmology surveillance — pressure monitoring, fundoscopy.
Management
- Neurology:
- Anticonvulsants — levetiracetam, lamotrigine, oxcarbazepine, carbamazepine.
- Low-dose aspirin 3–5 mg/kg daily — reduces stroke-like episodes and seizure burden in observational studies.
- Hemispherectomy / functional hemispherotomy — for refractory unilateral seizures and progressive hemiparesis.
- Cognitive / educational support.
- Ophthalmology — lifelong surveillance; medical and surgical glaucoma management.
- Dermatology — pulsed-dye laser of facial PWS; early childhood intervention may improve cosmetic outcomes.
- Genetic — somatic mutation; not inherited; risk to siblings / offspring not increased.
- Multidisciplinary specialist SWS clinic — coordinated care.
References
- Shirley MD et al. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med; 2013.
- Comi AM. Sturge-Weber syndrome. Handb Clin Neurol; 2015.
- Sturge-Weber Foundation UK — patient resources.
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