Sturge-Weber

Question 1

What type of genetic inheritance is associated with Sturge-Weber syndrome?

Answer 1

Not inherited; somatic mosaicism of GNAQ gene

Sturge-Weber syndrome is caused by a mutation that occurs after fertilization, leading to a mosaic pattern of affected cells.

Question 2

What is a characteristic skin manifestation of Sturge-Weber syndrome?

Answer 2

Port wine stain birth mark (nevus flammeus)

This birthmark may also appear as violaceous papules in a temporal distribution.

Question 3

What neurological feature is commonly associated with Sturge-Weber syndrome?

Answer 3

Leptomeningeal angioma

This feature can lead to neurological issues such as seizures.

Question 4

What ocular condition may occur in patients with Sturge-Weber syndrome?

Answer 4

Glaucoma

Glaucoma can develop due to the vascular malformations associated with the syndrome.