About Sturge-Weber Syndrome
Sturge-Weber syndrome is caused by a somatic mosaic gain-of-function mutation in GNAQ (p.R183Q), which arises during early embryogenesis and leads to abnormal vascular development. The hallmark is a port-wine birthmark (capillary malformation) on the face, ipsilateral leptomeningeal angiomatosis (brain vascular malformation), and glaucoma. Neurological complications include seizures, stroke-like episodes, focal weakness, and progressive intellectual disability due to brain damage from chronic venous hypertension.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Sturge-Weber Syndrome trials.
Brain MRI with gadolinium contrast demonstrating leptomeningeal enhancement is required for neurological SWS diagnosis
Seizure onset age and frequency are key baseline measures — prophylactic aspirin use should be documented
Sirolimus and other mTOR/MEK pathway inhibitor trials are emerging — document prior targeted therapy use
Port-wine birthmark distribution (ophthalmic V1 vs. maxillary V2 dermatomes) and glaucoma status affect trial stratification
Patient Resources
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