Sturge-Weber Syndrome (SWS), phakomatosis, Choroidal hemangioma & Glaucoma

👁 What is Sturge-Weber Syndrome (SWS)?

Sturge-Weber Syndrome is a type of phakomatosis,
characterized by vascular malformations involving the brain, face, and eyes.
Also called Encephalotrigeminal angiomatosis

📊 Incidence: ~1 in 50,000 live births

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🧠 The Triad of Angiomas

1. Intracranial Angioma
   • Typically in occipital / parieto-occipital lobes
   • Common symptoms:
     • Seizures (75–90%)
     • Intellectual disability (50%)
     • Hemiparesis, headaches
2. Facial Angioma
   • Along trigeminal nerve (V1/V2) distribution
   • Classic port-wine stain (PWS)
   • Upper eyelid involvement → eye complications more likely
3. Ocular Angioma
   • Common in conjunctiva, episclera, and choroid
   • Choroidal hemangioma → bright reddish fundus = Tomato ketchup appearance
   • Glaucoma (~30%), often within first 2 years of life

 

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⚠ Glaucoma & Surgical Challenges

• Glaucoma caused by:
  • Angle maldevelopment
  • Elevated episcleral venous pressure
• Surgical risks:
  • Excessive bleeding due to vascular lesions
  • Complications:
    • Explosive choroidal hemorrhage
    • Choroidal detachment + Serous retinal detachment

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✅ Summary

CategoryKey Findings

CNS	Occipital angioma → seizures, delays
Facial	Port-wine stain (PWS), trigeminal area
Ocular	Choroidal hemangioma, glaucoma

🎯 Ophthalmic management focuses on early glaucoma detection and choroidal complications