An overview of current and future treatment options for Sturge-Weber syndrome

Introduction: Sturge-Weber syndrome (SWS) presents in infancy with a facial port-wine birthmark associated with malformed leptomeningeal blood vessels and a choroid 'angioma' of the eye. It is a rare neurocutaneous disorder which occurs sporadically and is not inherited. Areas covered: Patients with SWS brain involvement have seizures, strokes and stroke-like episodes, and a range of the neurologic impairments. The mainstays of current treatment have included laser therapy for the birthmark, control of glaucoma through eye drops or surgery, and the use of anticonvulsants and low-dose aspirin. Surgical resection may be offered to those whose seizures are medically refractory. Endocrine, medical rehabilitation and cognitive co-morbidities are important to manage. SWS is not inherited, and the somatic mosaic mutation in the GNAQ gene, encoding the protein Gαq, has recently been identified. Impaired blood flow, coupled with impaired vascular innervation and function, contribute to neurologic deterioration over time in many patients. Expert opinion: Discovery of the causative somatic mosaic mutation suggests new insights into the pathophysiology of this vascular malformation disorder, and potential novel treatment strategies for future study. The mutation results in constitutive over-activation of the Ras-Raf-MEK-ERK pathway and inhibitors of this pathway may in the future prove useful in the treatment of SWS.