Sturge-Weber Syndrom and Cerebral Venous System

Question 1

when does sturge-weber usually develop?

Answer 1

within the 1st year of life, but not before birth

Question 2

90% of children with this condition will develop

Answer 2

epilepsy

Question 3

what type of disorder is this

Answer 3

RARE

Question 4

what kind of mutation is involved with sturge weber?

Answer 4

somatic mutation

Question 5

where is the mutation present?

Answer 5

in angioblasts

Question 6

what gene is mutated?

Answer 6

GNAQ

Question 7

common symptoms - main one

Answer 7

focal seizures

70-80% prevalen in unihemisphereic, 93% in bilatersl

Question 8

common symptoms - focal neurological deficits

Answer 8

hemiparesis, visual field deficit

Question 9

common symptoms - learning disability, cognitive impairment

Answer 9

50% in unilateral, 90% in bilateral

behavioral issues liek ADHD

Question 10

what is the hallmark brain involvement in Sturge weber?

Answer 10

leptomeningeal contrast enhancement

Question 11

what is the leptomeningela contrast caused by?

Answer 11

congestion of blood and brain surface in venous malfomation

Question 12

what MRI technique is the best way to view sturge-weber?

Answer 12

SWI

Question 13

what does SWI techinque show?

Answer 13

blood oxygenation

can visualize veins with diameters in submillimeter range

Question 14

SWI can detect

Answer 14

• low-flow vascular lesions (small veins)

- calcification

Question 15

if a person who has Sturge-weber doesn’t develop the transmedullary veins then they will have

Answer 15

atrophy

Question 16

what do the transmedullary veins provide?

Answer 16

compensatory drainage of venous blood

Question 17

what can progressively deposit in the brain, and what does it trigger?

Answer 17

calcium, it can trigger seizures!!

Question 18

sturge-weber is a multi-organ disease: SKIN

Answer 18

port wine stain
capillary malformation of skin
V1 usually involved

Question 19

sturge-weber is a multi-organ disease: BRAIN

Answer 19

leptomeningela angioma - venous malformation
85% of people have it unilaterally / 15% have it bilaterally
most common place in the brain is: parieto-occipital

Question 20

sturge-weber is a multi-organ disease: EYE

Answer 20

glaucoma

50% of people have it

Question 21

what can show that you might have a higher risk?

Answer 21

if your port wine stain involves the eyelid

Question 22

what is the fresh start hypothesis?

Answer 22

that the brain will transfer all things to one side from the damaged side

Question 23

brain plasticity and reorganization in the developing human brain depends on 6 things

Answer 23

1. lesion timing
2. size
3. location
4. functional inegreity of non-lesioned brain regions
5. epilepsy
6. medication effects

Question 24

does frontal lobe involvement makes things better or worse?

Answer 24

WAY WORSE

best if all behind the motor cortex