Sturge-Weber Syndrome

Summary

Sturge-Weber Syndrome is a congenital non-inherited disorder affecting the brain, skin, and eyes. It’s caused by somatic mosaicism, which leads to activating mutations in one copy of the GNAQ gene in certain cells of the body. Clinically, Sturge-Weber Syndrome presents as a port-wine stain of the face, seizures or epilepsy due to leptomeningeal angiomas, intellectual disabilities or developmental delay, as well as early onset glaucoma. Brain imaging with CT in patients with Sturge-Weber Syndrome will reveal “tram track calcifications” or parallel line-like calcifications that resemble tram tracks.

Key Points

• Sturge-Weber Syndrome
  • Characteristics
    • Congenital non-inherited disorder of neural crest derivatives
    • Due to somatic mosaicism
      • activating mutation in one copy of the GNAQ gene
  • Presentation
    • Port wine stain (nevus flammeus)
      • Cutaneous facial angioma (capillary vascular malformation) that forms a red, non-cancerous birthmark in the CN V1/V2 distributions
    • Leptomeningeal angioma
      • Leads to seizures/epilepsy and intellectual disability/developmental delay
    • Episcleral hemangioma
      • Leads to increased intraocular pressure and early onset glaucoma
  • Imaging
    • Tram-track calcifications on CT
      • Parallel calcifications seen in the brain