Sturge–Weber syndrome involves a characteristic ‘port-wine’ facial naevus or angioma associated with an underlying leptomeningeal angioma or other vascular anomaly.
There can be seizures, low IQ, and underlying cerebral hemisphere atrophy, as a result of a chronic state of reduced perfusion and increased oxygen extraction.
Patients may present with focal seizures, which are generally resistant to anticonvulsant medication, and can develop glaucoma.
- 98% of people with Sturge–Weber syndrome have a cranial port-wine naevus,
- 52% have extracranial involvement.
- 60% of patients will develop glaucoma;
- 83%, seizures;
- 65% have neurological difficulties.
Seizures usually start in the first two decades; over 40 per cent of these patients will have developmental delay and up to 85 per cent will have emotional and behavioural problems. In cases without epilepsy, developmental delay is rare and behavioural problems are less common (58 per cent).
The characteristic features are:
- leptomeningeal angiomatosis,
- cortical calcification,
- patchy parenchymal gliosis, and
- demyelination (Adamsbaum et al. 1996).
Figure 1 demonstrates an angiomatous malformation with enlarged draining vein between the cerebral hemispheres, extending posteriorly to the occipital horn of the lateral ventricle.