Sturge-Weber Syndrome

Snapshot

• A 5-year-old male presents with an unprovoked convulsive episode that lead to right-sided hemiparesis. On physical exam, a port wine stain is appreciated, affecting the ophthalmic and maxillary division of the trigeminal nerve on the left side of the face. Head CT shows brain calcifications.

Introduction

• Congenital vascular disorder characterized by
  • port wine stain (capillary malformation of the face, nevus flammeus)
    • primarily in V₁ or V₂ distribution of the trigeminal nerve
  • capillary-venous malformation (eye and brain)
• Etiology
  • GNAQ gene somatic mosaic mutation
    • GNAQ gene product is involved in regulating intracellular signaling pathways
  • this is a non-inherited disease
• Associated with:
  • leptomeningeal angioma
    • usually ipsilateral to port wine stain
  • seizures
  • capillary-venous malformation
  • intellectual disability
  • behavioral problems
  • ophthalmologic involvement
    • glaucoma 
• visual field defect

Presentation

• Symptoms
  • port wine stain
  • seizures
  • intellectual disability
  • behavioral problems
• decreased visual acuity and/or visual field defect

Evaluation

• Clinical findings
  • port wine stain
• MRI of the brain with gadolinium (preferred)
  • shows leptomeningeal capillary-venous malformation
• if MRI is not available, head CT may show brain calcification (“tram-tracking” sign)

Differential

• Klippel-Trenaunay-Weber syndrome
• Beckwith-Wiedemann syndrome

Treatment

• No specific treatment

Prognosis, Prevention, and Complications

• Complications
  • glaucoma
  • seizures
  • hemiparesis
  • mental retardation