Sturge-Weber Syndrome

Introduction

Sturge-Weber syndrome (SWS) is a sporadic congenital neurovascular disorder 

– It consists of facial port wine nevus involving the upper part of the face (in the first division of cranial nerve V) and capillary-venous malformations affecting the brain and eye. 

-SWS is caused by somatic mosaic mutations in the GNAQ gene. 

-It is not a heritable disorder. 

Symptoms & Signs 

Vascular: Port wine stain on one side of the face, (In one-quarter of the cases the nevus is bilateral), leptomeningeal vascular malformation

Neurologic features: Seizures, Focal neurologic deficits, hempiparesis, intellectual disability 

Ocular features: Glaucoma, capillary-venous vascular malformations of the conjunctiva, episclera, choroid, and retina 

Visual features: Homonymous hemianopia 

Diagnosis 

Plain Skull X rays: Cortical double-contoured calcifications “tramline” calcifications 

CT, MRI brain: Cortical atrophy 

Glaucoma testing 

EEG: depression of voltage over the involved area in early stages

Treatment 

No specific, effective treatment exists for SWS.

Port wine stains: Selective photothermolysis 

Choroidal hemangioma: laser photocoagulation or radiotherapy 

Seizures: Antiepileptics 

Glaucoma: Medications, surgery