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Sturge-Weber Syndrome - Neurologic

A neurocutaneous syndrome with port-wine stain, leptomeningeal angiomatosis, and glaucoma.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Nöroloji department. Book Appointment →

What is Sturge-Weber Syndrome - Neurologic?

Sturge-Weber syndrome (SWS) is a sporadic neurocutaneous disorder caused by GNAQ R183Q somatic mosaic mutation, with an incidence of 1/20,000-1/50,000.

It presents with a triad: 1) facial port-wine stain (V1 trigeminal distribution), 2) leptomeningeal angiomatosis (most often parieto-occipital), 3) glaucoma. Seizures (75-90%), stroke-like episodes, hemiparesis, and developmental delay are common.

Diagnosis is confirmed by gadolinium-enhanced MRI (leptomeningeal enhancement, cortical atrophy, calcifications). Treatment includes anticonvulsants (especially levetiracetam), low-dose aspirin (stroke prevention), laser therapy for the port-wine stain, and antiglaucoma drugs.

Symptoms

Facial port-wine stain (V1)
Refractory seizures (focal motor)
Hemiparesis or stroke-like episodes
Developmental delay
Glaucoma (eye redness, swelling)
Migraine-like headaches
Behavioral and learning difficulties

Risk Factors

GNAQ R183Q somatic mosaic mutation
Sporadic occurrence (no inheritance)
Trigeminal V1 port-wine stain
Bilateral facial involvement (worse prognosis)
Early-onset seizures (<6 months)
Status epilepticus history
Untreated glaucoma

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Newborn with facial port-wine stain in V1
  • First seizure
  • Focal weakness or hemiparesis
  • Visual impairment
  • Developmental delay

Treatment Methods

01
Brain MRI (gadolinium-enhanced)
02
EEG monitoring
03
Levetiracetam or oxcarbazepine for seizures
04
Aspirin 3-5 mg/kg/day prophylaxis
05
Laser therapy for port-wine stain
06
Antiglaucoma drops or surgery
07
Multidisciplinary follow-up

Which Department to Visit?

You can visit our Nöroloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Let us help you

You can make an appointment with our specialists or contact us for your concerns.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.