Sturge Weber Syndrome

A neurocutaneous syndrome (Phakomatosis) that is caused by a sporadic congenital error in the development of the ectoderm (skin and CNS) and mesoderm (blood vessels) resulting in angiomas of the face and brain.

Characteristic features include:

  • Port wine stain (nevus flammeus) located on the face in the trigeminal nerve distribution
  • Ipsilateral leptomeningeal angiomas => "tram track" calcifications on CT scan
  • Seizures
  • intellectual disability
  • increased risk of glaucoma

 

A genetic somatic activating mutation in the GNAQ gene during fetal development has been found to cause both port wine stains (a common congenital malformation) and the Sturge Weber Syndrome.

  • GNAQ gene codes for a Gq protein that is associated with G-protein coupled receptors and can activate phospholipase C.
  • A somatic mutation during development explains the fact that these disorders occur sporadically and are not inherited!

 

 

 

 

Pathology of the Stars:

Former President of the Soviet Union, Mikhail Gorbachev has a port-wine stain (nevus flammeus) on his forhead.

 

 

 

 

 

Photo Attribution: RIA Novosti archive, image #850809 / Vladimir Vyatkin / CC-BY-SA 3.0

Category: Genetics Mnemonics

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