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A newborn has a port-wine stain (nevus flammeus) covering the forehead and upper eyelid. CT shows tramtrack calcifications in the brain. She later develops seizures and glaucoma.
Somatic mosaic GNAQ variant (not inherited)
- Port-wine stain in V1 distribution (forehead, upper eyelid)
- Leptomeningeal angioma → seizures, intellectual disability
- Glaucoma (ipsilateral)
- "Tramtrack" calcifications on imaging
- NOT hereditary (somatic)
- Clinical recognition of a facial port-wine stain in the V1 (trigeminal) distribution with neurologic and ocular features
- Contrast-enhanced brain MRI is the test of choice for the leptomeningeal angioma; CT may show "tramtrack" gyriform calcifications
- Confirmation of a somatic GNAQ variant in affected tissue; serial intraocular pressure measurement to detect glaucoma
- Antiseizure medication for epilepsy, which is often the presenting and dominant problem; low-dose aspirin is used by some centers to reduce stroke-like episodes
- Lifelong glaucoma surveillance with medical or surgical lowering of intraocular pressure
- Pulsed-dye laser for the port-wine stain; developmental and educational support
- Neurology, ophthalmology, and dermatology co-management
"Stained with Wine in Sturge-Weber": Port-wine stain over the trigeminal nerve distribution is a hallmark feature.
"Sturge Sticks/Localizes to the Face": a somatic GNAQ variant affects one area (the face), involving one gene. Contrast with Osler-Weber-Rendu, which has multiple genes and systemic manifestations.