Sturge Weber Syndrome

Question 1

Defining features of Sturge Weber Syndrome

Answer 1

Facial capillary malformation or port-wine birthmark

Other characteristics: Vascular malformation of the brain (leptomeningeal angioma) and glaucoma

Question 2

Cause of sturge Weber syndrome

Answer 2

No known genetic bias and is non-familial

Hypothesize that occurs when vascular network fails to regress as it should in the ninth week of gestation resulting in angiomatosis of related tissue

Question 3

What are leptomeningeal angiomas

Answer 3

Capillary-venous vascular malformation of the brain

Question 4

What areas are most impacted by leptomeningeal angiomas in SWS

Answer 4

Usually seen on the same side of the port-wine birthmark and typically affect the occipital and parietal lobes (bilateral brain involvement is less common)

Question 5

What brain abnormalities are often seen in SWS

Answer 5

Leptomeningeal angioma, cerebral atrophy, and cortical calcification - most commonly lateralizado to the occipital and parietal regions but can spread over time to the frontal areas

Question 6

Brain involvement in SWS percentage with seizure

Answer 6

75% have unilateral brain involvement and 95% of individuals with bilateral brain involvement have seizures

Seizures semiology is typically contralateral to the side of the PWB

Question 7

Other associated conditions with SWS

Answer 7

Headaches and migraines are common
Stroke-like episodes
Motor weakness that can become permanent following prolonged seizures or strokes
18-fold increased prevalence of growth hormone deficiency
50-60% diagnosed with ID

Question 8

What are the risk factors of ID in SWS

Answer 8

Cerebral atrophy, cortical calcification, leptomeningeal angioma, and seizures that have early onset and are poorly controlled

Question 9

Age differences with SWS

Answer 9

Toddlers and young children are more vulnerable to stroke episodes

Seizures tend to stabilize in older children but can again worsen in adolescence

Question 10

Increased risks in later life

Answer 10

Early-onset dementia

Question 11

Outcome consideration

Answer 11

Better neurological outcome with later seizures (after 9-12 months And good seizure control afterwards) and if there is unilateral brain involvement

Prognosis is worse when there is onset of seizures and/or stroke-like episodes before 6 months

Question 12

Treatments for SWS

Answer 12

No SWS but antiepileptic drugs to control seizures (some research suggests better cognitive functioning in children who are treated prophylactically compared to those treated after their first seizure)

Low-dose aspirin is commonly recommended due to micro vascular thrombosis which contributes to neurological decline

Surgeries for those with intractable seizures such as lobectomy, hemispherectomy, and callostomy

Question 13

Neuropsychological findings with SWS

Answer 13

60% have IQ in the ID range
Learning problems are common
Attention problems
Slow processing speed
Sensorimotor functions vary
Risk for psychological problems and behaviors
Disruptive behavior disorder is most common
Increased risk for substance-related disorders disorders and mood disorders in adulthood
Social problems are common
Aggression and self-injurious behavior are seen in patients with ID

Mild to moderate impairments in language comprehension, word-list generation, and verbal memory seen with left hemisphere involvement

Question 14

Incidence rate of SWS

Answer 14

1 in 50,000

Question 15

Percentage of those with port wine stain with leptomeningeal angioma

Answer 15

10-20%

Question 16

What causes intracranial lesion in SWS

Answer 16

Believed to be due to proliferation of leptomeningeal vessels in the subarachnoid space that causes shunting of blood away from brain tissue resulting in decreased blood flow and focal hypoxia which results in cell death, volume loss, and calcification

Question 17

Common seizures in SWS

Answer 17

Focal seizures most common with focal motor seizures

Secondarily generalized seizures are uncommon but when they do occur it is usually later in childhood or adolescence

Question 18

Findings with seizures for SWS

Answer 18

General rule is that children with SWS usually do not exhibit ID in the absence of seizures

Fever and infection can trigger

Increased risk of prolonged seizures or status epilepticus

Seizures can cause stroke-like symptoms

Question 19

Glaucoma findings with SWS

Answer 19

15% diagnosed with glaucoma at birth, 61% first year of life, and 72% by 5 years old

Distribution in the V1 segment increases risk of glaucoma

Glaucoma usually found with ipsilateral choroid angiomas