Sturge-Weber Syndrome

FACTS

Triad: port-wine facial birthmark, leptomeningeal angioma, and glaucoma
 
  • Inheritance: none (somatic mutation after fertilization)
  • neurocutaneous d/o affecting development of blood vessels

HPI

  • stroke sx (prone to ischemic events 2/2 poor blood flow via affected intracranial blood vessels)
PHYSICAL EXAM

port-wine stain
notion image

IMAGING

  • abnormal intracranial pial vessels w/ cerebral Ca2+ (“tram-track sign”)
A/P