Type II: facial angioma without evidence of intracranial disease may have glaucoma Type I: represents the classic syndrome, with both facial and leptomeningeal angiomas may have glaucoma 23, Sturge-Weber syndrome can be classified according to the presence/absence of facial and leptomeningeal angiomas: In about 80% of the cases, there is unihemispheric involvement. The leptomeningeal angiomatosis results in a vascular steal affecting the subjacent cortex and white matter producing localized ischemia. An associated gene mutation has been identified with a nucleotide transition in GNAQ on chromosome 9q21 12. Unlike most phakomatoses, Sturge-Weber syndrome is sporadic with no definite identifiable hereditary component 4,10. These usually begin in the first few years of life and are often associated with developmental delay and hemispheric symptoms including hemiplegia/hemiparesis and hemianopsia.Īpproximately a third of patients have choroidal or scleral angiomatous involvement, which may be complicated by retinal detachment, buphthalmos or glaucoma 1.

The most common clinical manifestation is with childhood seizures, present in 71-89% of cases 2, which is often refractory to medical therapy 1. In the majority of cases (~70%) the nevus is unilateral and ipsilateral to the intracranial abnormality. In ~5%, it has intracranial involvement present without associated cutaneous nevus 1,2. This feature is almost always present and usually involves the ophthalmic division (V1) of the trigeminal nerve 3 if this territory is not involved, Sturge-Weber syndrome is unlikely 10. The diagnosis is usually obvious on account of a congenital facial cutaneous capillary malformation (also known as port wine stain or facial nevus flammeus). Sturge-Weber syndrome is a rare syndrome, with an incidence estimated at 1 in 20,000-50,000 11.

Nevus flammeus