Sturge-Weber Syndrome

Question 1

What is the inheritance of SWS?

Answer 1

Sporadic

Somatic mutation in GNAQ gene

Question 2

What is the prevalence of SWS?

Answer 2

1 in 50 000

Question 3

What is the clinical triad for SWS?

Answer 3

1. Port-wine stain (capillary malformation of skin in trigeminal nerve distribution)
2. Retinal choroidal angioma (with or without glaucoma)
3. Cerebral capillary-venous leptomeningeal angioma

Question 4

What is the classical pattern for the port wine stain in SWS?

Answer 4

MUST involve V1 distribution
V2>V3 can be involved
5-10% of individuals with this port wine stain have SWS
Most often unilateral

Question 5

What is the neuroimaging signs of pial angiomatosis?

Answer 5

Calcification of cortex (not in angioma) with train tracks sign
Increases with age
Progressive cortical atrophy
Calcium "blooms"
Choroid plexus enlarged

Question 6

What are the other clinical manifestations of SWS?

Answer 6

1. Partial seizures (75-90% by age 3yo)
2. Vascular headache (40-60%)
3. Developmental delay/MR (50-75%)
4. Glaucoma (30-70%)
5. Hemianopsia (40-45%)
6. Hemiparesis (25-60%)