Updates and future horizons on the understanding, diagnosis, and treatment of Sturge-Weber syndrome brain involvement.

AIM: To review recent developments in the understanding, diagnosis, and treatment of Sturge-Weber syndrome (SWS). METHOD: Members of the Brain Vascular Malformation Consortium Sturge-Weber Syndrome National Workgroup contributed their expertise to review the literature and present promising directions for research. RESULTS: The increasing number of reports dealing with SWS over the last decade reflects progress in the diagnosis and understanding of the neurological involvement. The proliferation of centers and advocacy groups to care for patients with SWS and to stimulate research has aided the development of new insights into the clinical manifestations and the pathophysiology of neurological progression, and the development of novel hypotheses to direct future research. Many key questions remain, but the tools and networks to answer them are being developed. INTERPRETATION: This review summarizes important new knowledge and presents new research directions that are likely to provide further insights, earlier diagnosis, improved treatments, and possibly, prevention of this syndrome.

Duke Scholars

Author Douglas Alan Marchuk Molecular Genetics and Microbiology