Diagnosis:
A combination of clinical findings and imaging
Clinical features:
Skin:
- Facial nevus ‘port wine stain’ ‘nevus flammeus’, may be absent. In the distribution of trigeminal nerve
Eye:
- Congenital glaucoma, bupthalmus, cloudy enlarged cornea
Findings on Investigations:
CT:
- Calcification of the cortex
- Cortical atrophy
MRI:
- Venous hemangioma of the meninges in the occiptal region. Underlying cortex gliosis & atrophy.
- Choroidal angioma
EEG:
- Early: depression of voltage of the involved area
- Late: epileptiform abnormalities