Sturge Weber syndrome

Related Subjects: |Subarachnoid Haemorrhage |Dural Arteriovenous Malformations |Pulmonary Arteriovenous malformation |Sturge Weber syndrome

🍷🧠👁️ Sturge–Weber syndrome (SWS) is a sporadic neurocutaneous vascular disorder caused by a post-zygotic (mosaic) somatic mutation. It classically features a facial port-wine stain (capillary malformation), leptomeningeal angiomatosis (pial vascular malformation), and ocular disease (especially glaucoma). Neurological morbidity is mainly driven by chronic venous congestion → cortical ischaemia → seizures, stroke-like episodes and progressive atrophy.

📖 About

• Nature: Congenital, non-inherited (sporadic), due to somatic mosaicism.
• Core triad: 🍷 facial capillary malformation + 🧠 leptomeningeal angioma + 👁️ glaucoma (variable combination).
• Typical distribution: Port-wine stain often involves the ophthalmic (V1) region; risk of brain/eye involvement is higher with V1 (especially upper eyelid) involvement.

🧬 Genetics & Pathophysiology

• Cause: Somatic activating mutation in GNAQ (mosaic) → abnormal vascular development.
• Brain mechanism: Leptomeningeal venous malformation → impaired cortical venous drainage → chronic hypoperfusion and “vascular steal” → gliosis, calcification, and hemispheric atrophy.
• Why seizures? Irritable, hypoperfused cortex + gliosis → lower seizure threshold; early-onset seizures predict worse cognitive outcome.
• Why calcification? Chronic cortical injury → dystrophic gyriform (“tram-track”) calcifications, classically in parieto-occipital cortex.

🧾 Roach Classification (Types)

Most teaching uses the Roach classification (Types I–III), based on whether SWS involves the face (port-wine stain) 🍷, the leptomeninges (brain) 🧠, and/or the eye (glaucoma) 👁️.

• Type I (classic / most common) 🍷🧠 (±👁️)
  • Facial port-wine stain + leptomeningeal angioma.
  • Glaucoma may occur (often ipsilateral; can be early or later).
• Type II 🍷 (±👁️)
  • Facial port-wine stain only (no leptomeningeal involvement).
  • Glaucoma may occur.
• Type III 🧠
  • Leptomeningeal angioma only (typically no facial port-wine stain).
  • Often presents later with seizures/headache/neurological events; glaucoma is uncommon but assess eyes anyway 👁️.

🩺 Clinical Presentation

• Skin 🍷: facial port-wine stain present at birth; commonly V1/V2 distribution.
• Neurology 🧠:
  • Seizures (often in infancy/early childhood; focal ± secondary generalisation).
  • Stroke-like episodes or transient neurological deficits (weakness, visual symptoms) due to hypoperfusion/venous congestion.
  • Hemiparesis (often contralateral to brain involvement), developmental delay, learning difficulties.
  • Headache/migraine can be prominent.
  • Visual field deficit (occipital involvement) e.g., homonymous hemianopia.
• Eye 👁️:
  • Glaucoma (can be congenital/early-onset or develop later).
  • Choroidal haemangioma → visual impairment, retinal complications.

🖼️ Imaging & hallmark findings

🧠 “Tram-track” calcifications are the classic imaging hallmark of SWS. They represent gyriform cortical/subcortical calcification, often parieto-occipital, with associated hemispheric atrophy and sometimes calvarial thickening.

🧪 Investigations

• 🩻 CT brain: can show gyriform (“tram-track”) calcification and hemispheric volume loss (often later in disease).
• 🧲 MRI brain with contrast (key test): leptomeningeal enhancement, pial angioma, cortical atrophy; consider SWI for venous abnormalities.
• 🩸 MRV/MRA (where available): evaluates venous drainage anomalies and associated vascular features.
• ⚡ EEG: for seizure classification, lateralisation, and presurgical work-up if refractory epilepsy.
• 👁️ Ophthalmology assessment: urgent baseline + ongoing monitoring (IOP, optic nerve, choroidal haemangioma).

⚠️ Complications

• ⚡ Epilepsy (including refractory focal epilepsy; status epilepticus risk).
• 🧠 Progressive neurological impairment: hemiparesis, cognitive decline, developmental delay.
• 🧩 Stroke-like episodes / transient deficits (hypoperfusion/venous congestion).
• 👁️ Glaucoma → optic nerve damage and vision loss if untreated.
• 🩸 Intracranial haemorrhage is less central than in AVMs, but vascular fragility/venous hypertension can contribute to complications.

⚖️ Management (practical, multidisciplinary)

• Seizure control ⚡:
  • Early recognition and treatment of focal seizures; optimise anti-seizure medication and adherence.
  • Refractory epilepsy → refer to tertiary epilepsy service for presurgical evaluation (EEG + MRI ± PET/SPECT).
• Stroke-like episodes / neurological decline 🧠:
  • Supportive management, avoid dehydration and hypotension; treat triggers (infection, poor sleep, missed meds).
  • Consider specialist advice regarding antiplatelet use in recurrent stroke-like episodes (practice varies; individualised risk/benefit).
• Ophthalmology 👁️:
  • Urgent assessment for glaucoma at diagnosis, then ongoing monitoring.
  • Manage glaucoma with drops and/or surgery per ophthalmology; treat choroidal haemangioma complications if present.
• Dermatology / laser therapy 🍷:
  • Pulsed dye laser can improve port-wine stain appearance (cosmetic + psychosocial benefit).
• Neurodevelopment & rehab 🧑‍🏫:
  • Early developmental assessment; physiotherapy/OT/speech and language support as needed.
  • Education planning and family support are central to long-term outcomes.

📉 Prognosis

• Earlier seizure onset, frequent seizures, and extensive unilateral leptomeningeal involvement are associated with worse neurodevelopmental outcomes.
• Good seizure control and early multidisciplinary care improve function and quality of life.
• Ocular prognosis depends on early detection and control of glaucoma.

💡 Exam Pearls

• 🍷 Port-wine stain in V1 distribution → think SWS and check brain + eyes.
• 🧠 Tram-track calcifications + seizures + hemiparesis → classic triad.
• 👁️ Glaucoma can be early or late → needs ongoing surveillance.

📖 References

• Radiopaedia: Sturge–Weber syndrome (imaging and Roach types)
• Sturge-Weber Foundation: Types I–III overview