Updated: 3/27/2018

Sturge-Weber Disease

Review Topic
  • A newborn boy is born to a young mother via a normal spontaneous vaginal delivery. She had not had any prenatal care during her pregnancy. On physical exam, the newborn has a large port-wine stain on the left forehead and eyelid. He is also noted to have some shaking episodes. Concerned, the physician obtains an MRI of the head, which shows a leptomeningeal angioma.
  • Clinical definition
    • a congenital neurocutaneous disorder affecting small-sized blood vessels, characterized by
      • a port-wine stain in trigeminal distribution (typically V1/V2)
        • capillary malformation of the face
          • also known as nevus flammeus
      • capillary-venous malformations of the brain
        • seizures
      • capillary-venous malformations of the eye
        • early-onset glaucoma from increased intra-ocular pressure
    • also known as encephalotrigeminal angiomatosis
  • Epidemiology
    • demographics
      • one of the more common neurocutaneous disorders, after neurofibromatosis and tuberous sclerosis
  • Genetics
    • inheritance pattern
      • sporadic
    • mutations
      • GNAQ gene somatic mosaic mutation
        • encodes for a protein involved in regulating intracellular signaling pathways
  • Associated conditions
    • ipsilateral leptomeningeal angioma
      • causes seizures
    • intellectual disability
    • behavioral problems
    • episcleral hemangioma
      • causes increased intra-ocular pressure and early-onset glaucoma
  • Symptoms
    • seizures
    • intellectual disability
    • glaucoma
      • visual defects
  • Physical exam
    • unilateral port-wine stain on the head and neck
    • corneal clouding
  • Magnetic resonance imaging (MRI) with gadolinium
    • indication
      • evaluate for capillary-venous malformations
    • findings
      • leptomeningeal angioma
      • episcleral hemangioma
  • Computed tomography (CT)
    • indication
      • patients contraindicated to MRI or if MRI is not available
    • findings
      • tram-tracking sign caused by brain calcifications
  • Making the diagnosis
    • based on clinical presentation and imaging
  • Klippel-Trenaunay-Weber syndrome
    • distinguishing factors
      • associated with port-wine stains
      • patients present with varicose veins, bone and soft tissue swelling, and different limb sizes
  • Medical
    • anti-epileptics
      • indication
        • seizures
  • Non-operative
    • pulsed laser therapy
      • indication
        • port-wine stain
  • Neurological deficits from seizures
  • Blindness

Please rate topic.

Average 4.4 of 8 Ratings

Thank you for rating! Please vote below and help us build the most advanced adaptive learning platform in medicine

The complexity of this topic is appropriate for?
How important is this topic for board examinations?
How important is this topic for clinical practice?
Topic COMMENTS (2)
Private Note