Updates on Sturge-Weber Syndrome

Abstract

Sturge-Weber syndrome (SWS) is a rare, noninherited neurovascular disorder characterized by abnormal vasculature in the brain, skin, and eye. Patients with SWS characteristically have facial capillary malformation, also known as port-wine birthmark, a leptomeningeal vascular malformation seen on contrast-enhanced magnetic resonance imaging images, abnormal blood vessels in the eye, and glaucoma. Patients with SWS have impaired perfusion to the brain and are at high risk of venous stroke and stroke-like episodes, seizures, and both motor and cognitive difficulties. While the activating R183Q GNAQ somatic mutation is the most common somatic mutation underlying SWS, recent research also implicates that GNA11 and GNB2 somatic mutations are related to SWS. Recent retrospective studies suggest the use of low-dose aspirin and vitamin D in treatment for SWS and prospective drug trials have supported the usefulness of cannabidiol and Sirolimus. Presymptomatic treatment with low-dose aspirin and antiepileptic drugs shows promising results in delaying seizure onset in some patients. This review focuses on the latest progress in the field of research for Sturge-Weber syndrome and highlights directions for future research.

Keywords: Sturge-Weber syndrome; diagnosis; seizures; stroke; treatment; vascular malformations.

Figure 1:

Diagram of molecular pathways which are likely hyper-activated by SWS somatic mutation in the protein Gαq. This figure also indicates several classes of inhibitors, including mTOR inhibitor such as Sirolimus, which are being tested, or may be studied in future clinical drug trials for SWS.

Figure 2:

Neuroimaging in 3 patients with Sturge-Weber syndrome. Stars indicate affected areas. A: Axial T1 post-contrast image showing leptomeningeal enhancement over the right hemisphere. B: Susceptibility weighted imaging (SWI) of another patient showing greatly dilated deep draining vessels draining to the deep venous system. C: Head CT, non-contrast, from another patient showing calcification in affected areas.