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

Abstract

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.

Figure 1

Co-registered susceptibility weighted imaging (SWI) and 2-deoxy-2[¹⁸F]fluoro-D-glucose positron emission tomography (FDG-PET) in a child with Sturge–Weber syndrome and left hemispheric involvement. Native SWI shows calcified areas in the left occipital and posterior temporal cortex. Hypometabolism on PET extends into the anterior temporal cortex.

Figure 2

2-deoxy-2[¹⁸F]fluoro-D-glucose positron emission tomography (FDG PET)) images of two children with Sturge–Weber syndrome (SWS) and unilateral brain involvement. (a) Severe, extensive hypometabolism in the left hemisphere occurred before 3 years of age; this child had relatively well-preserved cognitive functions (full scale IQ 79, with good verbal skills), suggesting effective reorganization; his seizures became controlled with medication. (b) Increased glucose metabolism (arrows) in the left occipital lobe of a 4-year old child with SWS and severe right occipital damage.