◈ [SWS-SY-PW-CM-SF-SVM] — Sturge-Weber Syndrome
Classification: Slow-Flow Capillary Malformation — Syndromic — Facial Port Wine CM with Leptomeningeal Capillary-Venous Malformation
Sturge-Weber Syndrome is a non-hereditary neurocutaneous disorder defined by the triad of a facial port wine stain, leptomeningeal angiomatosis (abnormal capillary-venous malformations on the brain’s surface), and glaucoma. Not all three components are present in every patient — but the neurological and ocular dimensions are what distinguish SWS from an isolated port wine stain.
The facial port wine stain in SWS is not the diagnosis. It is the alarm — the surface signal of a deeper malformation affecting the brain and eye. The same GNAQ mutation that drives the facial CM also affects the leptomeningeal vessels. The skin finding and the brain finding share one molecular cause.
The Sturge-Weber Triad
| Facial Port Wine Stain | Typically V1/V2 trigeminal distribution — forehead, upper eyelid, cheek. V1 involvement (forehead, upper eyelid) most associated with intracranial involvement. Not all facial PWS signals SWS. |
| Leptomeningeal Angiomatosis | Abnormal capillary-venous malformations on the brain surface (pia mater). Causes chronic ischemia and cortical atrophy. Presents as seizures in ~75-90% of SWS patients, often in the first year of life. |
| Glaucoma | Elevated intraocular pressure. Present in ~30-70% of SWS patients. Can cause blindness if untreated. Requires ophthalmologic monitoring from infancy. |
| Genetic Driver | Somatic GNAQ mutation (p.R183Q). Not heritable. Same gene as isolated CM — affects both dermal and leptomeningeal vessels. |
Why distribution matters
A newborn with a port wine stain involving the forehead or upper eyelid warrants neurological and ophthalmologic evaluation. This is not alarmist — it is the standard of care that prevents delayed diagnosis of seizure disorder and glaucoma. Lesions confined to V2 without V1 involvement carry significantly lower risk of intracranial involvement.
Treatment — Multidisciplinary
PDL for the facial capillary malformation (surface treatment only — does not affect leptomeningeal or ocular involvement). Antiseizure medications — seizure control is the primary neurological goal. Low-dose aspirin has shown benefit in some studies for reducing stroke-like episodes. Glaucoma management — medical or surgical. Early developmental intervention associated with better outcomes.
◈ Deeper Dive — Clinical Profile
→ Full clinical Q&A, treatment options, differential diagnosis, and source references