Sturge Weber Syndrome
Sturge Weber Syndrome is 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!
Port-wine stain (nevus flammeus)
Pathology of the Stars:
Former President of the Soviet Union, Mikhail Gorbachev has a port-wine stain (nevus flammeus) on his forhead.
Note: He does NOT have Sturge Weber sydrome.
Photo Attribution: RIA Novosti archive, image #850809 / Vladimir Vyatkin / CC-BY-SA 3.0