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.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3805257 | PMC |
http://dx.doi.org/10.1111/j.1469-8749.2011.04169.x | DOI Listing |
Pediatr Neurol
January 2025
Department of Neurosurgery, Sanbo Brain Hospital, Capital Medical University, Beijing, China; Beijing Key Laboratory of Epilepsy, Beijing, China; Center of Epilepsy, Beijing Institute of Brain Disorders, Collaborative Innovation Center for Brain Disorders, Capital Medical University, Beijing, China. Electronic address:
Background: Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder, often complicated by epilepsy. Approximately 50% of patients with SWS with epilepsy develop drug-resistant seizures, leaving limited treatment options. Vagus nerve stimulation (VNS) is a known therapy for refractory epilepsy, modulating neural activity to reduce seizures.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Background: Sturge-Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder affecting the skin, brain, and eyes, due to somatic activating mutations in GNAQ or, less commonly, GNA11 gene. It is characterized by at least two of the following features: a facial capillary malformation, leptomeningeal vascular malformation, and ocular involvement. The spectrum of clinical manifestations includes headache, seizures, stroke-like events, intellectual disability, glaucoma, facial asymmetry, gingival hyperplasia, etc.
View Article and Find Full Text PDFSemin Ophthalmol
January 2025
Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, WI, USA.
Purpose: To examine propranolol efficacy in treating diffuse (DCH) and circumscribed choroidal hemangiomas (CCH) and controlling intraocular pressure (IOP) in patients with Sturge-Weber syndrome (SWS).
Methods: A SWS patient case treated with propranolol for DCH is presented. Following PRISMA guidelines, we also performed a systematic review using PubMed/Web of Science, analyzing 14 studies detailing propranolol treatment outcomes for DCH, CCH, and IOP control in SWS.
Curr Med Imaging
January 2025
Department of Radiology, Sengkang General Hospital, Singapore.
Background: Leptomeningeal enhancement, visible on MRI, can indicate a variety of diseases, both neoplastic and non-neoplastic.
Objective: This comprehensive pictorial review aims to equip radiologists and trainees with a thorough understanding of the diverse imaging presentations of leptomeningeal disease.
Methods: Drawing from a retrospective analysis of MRI scans conducted between 1 January 2008 and 30 September 2022, at two tertiary teaching hospitals in Singapore, this review covers a wide range of conditions.
Jpn J Radiol
December 2024
Department of Radiology, Mie University Graduate School of Medicine, 2-174 Edobashi, Tsu, Mie, 514-8507, Japan.
Brush sign (BS) was first reported as prominent hypointensity of deep medullary veins and subependymal veins on T2*-weighted images at 3 T MRI in patients with acute stroke in the territory of the middle cerebral artery. Subsequently, BS in central nervous system (CNS) diseases such as moyamoya disease, cerebral venous thrombosis, and Sturge-Weber syndrome was also described on susceptibility-weighted imaging (SWI), and the clinical implications of BS were discussed. The purpose of this review is to demonstrate BS on SWI in various CNS diseases and its mechanisms in the above-mentioned diseases.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!