Sturge-Weber Syndrom and Cerebral Venous System Flashcards
when does sturge-weber usually develop?
within the 1st year of life, but not before birth
90% of children with this condition will develop
epilepsy
what type of disorder is this
RARE
what kind of mutation is involved with sturge weber?
somatic mutation
where is the mutation present?
in angioblasts
what gene is mutated?
GNAQ
common symptoms - main one
focal seizures
70-80% prevalen in unihemisphereic, 93% in bilatersl
common symptoms - focal neurological deficits
hemiparesis, visual field deficit
common symptoms - learning disability, cognitive impairment
50% in unilateral, 90% in bilateral
behavioral issues liek ADHD
what is the hallmark brain involvement in Sturge weber?
leptomeningeal contrast enhancement
what is the leptomeningela contrast caused by?
congestion of blood and brain surface in venous malfomation
what MRI technique is the best way to view sturge-weber?
SWI
what does SWI techinque show?
blood oxygenation
can visualize veins with diameters in submillimeter range
SWI can detect
- low-flow vascular lesions (small veins)
- calcification
if a person who has Sturge-weber doesn’t develop the transmedullary veins then they will have
atrophy
what do the transmedullary veins provide?
compensatory drainage of venous blood
what can progressively deposit in the brain, and what does it trigger?
calcium, it can trigger seizures!!
sturge-weber is a multi-organ disease: SKIN
port wine stain
capillary malformation of skin
V1 usually involved
sturge-weber is a multi-organ disease: BRAIN
leptomeningela angioma - venous malformation
85% of people have it unilaterally / 15% have it bilaterally
most common place in the brain is: parieto-occipital
sturge-weber is a multi-organ disease: EYE
glaucoma
50% of people have it
what can show that you might have a higher risk?
if your port wine stain involves the eyelid
what is the fresh start hypothesis?
that the brain will transfer all things to one side from the damaged side
brain plasticity and reorganization in the developing human brain depends on 6 things
- lesion timing
- size
- location
- functional inegreity of non-lesioned brain regions
- epilepsy
- medication effects
does frontal lobe involvement makes things better or worse?
WAY WORSE
best if all behind the motor cortex
