Sturge-Weber is one of the rare phacomatosis or neurocutaneous syndromes, which consists of abnormal capillary malformations that can involve the face, eyes and leptomeninges of the brain. The syndrome was first described by W.A. Sturge in 1969. It has been recently demonstrated by Shirely et al that it is caused by a somatic activating mutation in guanine nucleotide-binding protein G(q) (GNAQ) in the majority of cases.
The facial capillary angiomas are centered along the distribution of the V1 (ophthalmic), V2 (maxillary) and V3 (mandibular) branches of the trigeminal nerve and, if present in an infant or child presenting with seizures, a diagnosis of SWS should be considered. It should be noted that SWS may be present in patients without any facial angiomas and that not all patients with facial angiomas have SWS.
Central neuroaxial imaging may reveal characteristic angiomas along with calcification of the leptomeninges ipsilateral to the facial naevus. These may lead to atrophy of the cerebral cortex along with variable neurological and cognitive impairment.
Characteristically, the main ocular manifestations include glaucoma, varicosities of the retinal vessels, haemangioma of the choroid and retinal detachment. Optic neuropathy and bubhthalmos secondary to the raised intraocular pressure can occur in untreated cases of raised IOP. Occipital brain involvement is possible. These may lead to varied visual field defects and even blindness.
Clinical features include seizures, which may be generalised or focal in origin most often occurring contralateral to the facial naevus. Developmental delay and cognitive impairment, along with headache, stroke-like events, hemiparesis and hemi cerebral atrophy may be present. These may occur secondary to the ischaemic and destructive effect of cerebral angiomas and associated seizures. Facial angiomas may vary in colour from light pink and flat to dark purple and raised. Cardiac lesions, which may be occasionally associated with Sturge-Weber Syndrome, include septal defects, valvular anomlies, transposition of the great vessels, aortic coarctation and rarely deep arteriovenous malformations.
The mainstay of treatment is seizure control. Seizures may worsen any associated cortical hypo perfusion with the potential to further impair both neurological and developmental delay. Intraocular pressure reduction in glaucoma can sometimes be achieved with both carbonic anhydrase inhibitors and Beta-blockers, however surgery may be required to control the elevate eye pressure. Facial naevi can be treated with laser to varying degrees of results.