Sturge–Weber syndrome

Question 1

What type of syndrome is this and explain

Answer 1

Neurocutaneous syndrome; affects all 3 germ layers - ectoderm, mesoderm and endoderm

Affect both the brain and the skin

Question 2

What is Sturge-Weber syndrome

Answer 2

Too many capillaries

condition in which there is usually a birthmark (port wine stain) involving the forehead or eye lid area, a layer of extra blood vessels over the surface of the brain (pial angioma) and sometimes extra blood vessels in the lining of the eye (choiroidal angioma)

Question 3

Pathophysiology

Answer 3

• Early embryological malformation of vascular system, affecting skin, eye and brain
• Mutation in the GNAQ gene.

Question 4

Neuropathy

Answer 4

• Brain angiomas (benign growth consisting of blood vessels) that are ipsilateral to skin angioma
• 85% unilateral
• Dilated and tortuous pial vessels
• Abnormal venous drainage and venous ischaemia in cerebral cortex
• Reduced arterial flow and cerebral atrophy
• Neuronal loss, gliosis, calcification

Question 5

Clinical presentation

Answer 5

• Facial haemangioma at birth
• Upper eyelid and frontal territory of 1st branch of Vth nerve
• Unilateral 63%
• Angioma also in V2, V3
• Thorax, abdomen, upper and lower limbs– Klippel-Trenaunay syndrome (blood vessels or lymph vessels fail to form properly)

Question 6

Neurological signs

Answer 6

• Prognosis related to severity of CNS signs
• Epilepsy
• Hemianopsia
• Hemiplegia
• Learning difficulties
• Seizures form posterior occipital region
• Epilepsy 75-85% (mostly in first year)
• Status epilepticus, refractory seizures
• Focal motor, infantile spasms

Question 7

More neurological signs

Answer 7

• Contralateral spastic hemiplegia and hemianopsia
• Cognitive problems (80%)
• 50% significant cognitive problems in later childhood
• Most severe if bilateral cerebral lesions, degree of cerebral atrophy, early onset seizures, refractory seizures
• Headaches and migraine

Question 8

Ophthalmological signs

Answer 8

• Eyelid haemangioma
• Glaucoma (30-70%)
• Conjunctival and episcleral haemangiomas
• Diffuse choridal haemangiomas (40-50%)
• Heterochromia of irides
• Urgent ophthalmological review

Question 9

Diagnosis

Answer 9

• Suspected clinically at birth
• Neuroimaging
• MRI with GAD- pial angioma– Cerebral atrophy
• CT scan- – railroad track calcification
• PET and SPECT- hypometabolism

Question 10

Treatment?

Answer 10

• Stroke prevention measures– Avoidance of dehydration, fever– ?Aspirin– Headache treatment
• Glaucoma treatment
• Anticonvulsants
• Epilepsy surgery– Hemispherectomy (81% sz free at 1 yr)
• Therapies

Question 11

Summarise

Answer 11

Blood vessels fail to form properly

Port wine birthmark

Seizures and eye problems

Question 12

What protein is affected

Answer 12

Gαq protein

Question 13

What gene is affected

Answer 13

GNAQ gene