STURGE-WEBER

Neuro-derm-vascular disease

Sturge-Weber Syndrome is a rare neuro-cutaneous disease. There are some skin symptoms. There are some neuro symptoms. The ultimate underlying problem isn’t well understood, but is thought to be due to some irregularity of embryological capillaries, which leads to too many capillaries.

• Extra capillaries of the skin →  a unilateral birthmark called a port wine Stain. 

• Extra capillaries of the eye →  compression of canal of Schlemm → glaucoma 

• Extra capillaries of the meninges → blood is shunted from the brain to the meninges → Seizures, UMN lesions, and intellectual disability. 

Cause?

Although it’s a congenital disease, you typically don’t inherit it from your parents. That’s because it’s mostly caused by a sporadic mutation of the GNAQ protein. Bad luck, basically.