About 703 results

ALLMedicine™ Sturge-Weber Syndrome Center

Research & Reviews  256 results

GNA11-mutated Sturge-Weber Syndrome has distinct neurologic and dermatologic features.
European Journal of Neurology; Dompmartin A, van der Vleuten CJM et. al.

Jun 19th, 2022 - Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by clinical manifestations involving the brain, eye and skin. SWS is commonly caused by somatic mutations in G protein subunit Alpha Q (GNAQ). Subunit Alpha 11 (GNA11) mutation...

Clinical characteristics of infants with port-wine stain and glaucoma secondary to Stur...
https://doi.org/10.1186/s12886-022-02476-x 10.1016/j.jaapos.2009.04.007 10.1007/s10792-016-0412-3 10.1016/j.joco.2018.10.001 10.3109/02713683.2015.1135962 10.1080/13816810.2021.1910963 10.1016/j.pediatrneurol.2019.05.013
BMC Ophthalmology; Yan H, Hu M et. al.

Jun 11th, 2022 - Sturge-Weber Syndrome (SWS) is a rare disease involving the eye, skin, and brain. Port-wine stain (PWS) and glaucoma are common clinical manifestations. This study analysed the clinical characteristics of infants with PWS and glaucoma secondary to...

Focal lesionectomy as surgical treatment of epilepsy in patients with Sturge-Weber synd...
Neurosurgical Focus; Frank NA, Greuter L et. al.

May 11th, 2022 - Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder presenting mostly with a facial port-wine stain and leptomeningeal angiomatosis. More than 85% of the patients are affected by epilepsy by the age of 2 years. Seizure and symptom contro...

Magnetic Resonance Imaging Evaluation of Hemangioma Resection for Encephalofacial Angio...
Contrast Media & Molecular Imaging; Lv Y, Liang G et. al.

Apr 29th, 2022 - This study was aimed to evaluate the clinical efficacy of hemangioma resection in the treatment of infantile encephalofacial angiomatosis (Sturge-Weber syndrome, SWS) through magnetic resonance imaging (MRI) images, and intelligent algorithms were...

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Clinicaltrials.gov  10 results

Cannabidiol Expanded Access Study in Medically Refractory Sturge-Weber Syndrome

Mar 2nd, 2022 - We hope to gain an understanding of the utility of pure CBD used for the treatment of medically refractory epilepsy in SWS in this open-label, safety dose-finding, study. Recent evidence suggests that CBD has multiple, beneficial, effects in patie...

Longitudinal Neuroimaging in Sturge-Weber Syndrome

Jan 10th, 2022 - This project will combine advanced neuroimaging with detailed neuro-psychology evaluation, performed in both children and young adults affected by Sturge-Weber syndrome, in order to address two main aims, each of them with two research hypotheses:...

Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome

Nov 1st, 2021 - Sirolimus will be administered as an adjunct to all current medications. The impact of sirolimus upon cognitive functioning in Sturge-Weber syndrome is the primary outcome measure. This outcome will be assessed using a panel of testing selected ba...

Longitudinal Studies to Identify Biomarkers for Sturge-Weber Syndrome

Sep 8th, 2021 - Aim 1: Develop a longitudinal database of patients with SWS Clinical sites will collect longitudinal data retrospectively on measures of clinical symptoms and medications/treatments for study subjects who participated in the existing BVMC2/SWF reg...

Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

Aug 26th, 2021 - This study is one of three projects of an NIH Rare Disease Clinical Research Consortium focused on brain blood vessel malformations in three different rare diseases. The focus of this project is on Sturge-Weber Syndrome. We plan to improve the fut...

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News  14 results

Violaceous Patches on the Arm
Cuong Le, DO, Joseph Michael Dyer, DO et. al.

Aug 27th, 2019 - The Diagnosis: Phacomatosis Cesioflammea Phacomatosis pigmentovascularis (PPV) encompasses a group of diseases that have a vascular nevus coupled with a pigmented nevus. 1 It is divided into 5 types: Type I is defined by the presence of a vascular.

Early referral recommended for high-risk port-wine stain cases
Erin Cheslow

Oct 29th, 2017 - In high-risk port-wine stain phenotypes – forehead, hemifacial, and median – early referral to a pediatric neurologist is the best way to enable early symptom recognition of Sturge-Weber syndrome (SWS), according to results of a literature review.

Irregular Erythematous Patch on the Face of an Infant
Xiaoxiao Catherine Guo, MD, Lisa Ann Blackwood, MD et. al.

Oct 13th, 2017 - The Diagnosis: Phakomatosis Pigmentovascularis With Sturge-Weber Syndrome The erythematous patches were identified as capillary malformations (port-wine stains) and the slate gray pigmentary changes as dermal melanocytosis (Mongolian spots)(Figure.

Concurrent Sturge-Weber Syndrome, Facial Infantile Hemangioma, and Cutis Marmorata Telangiectatica Congenita
Nina Poliak, MD, MPH, Anthony Rainey, MD

Oct 2nd, 2017 - Sturge-Weber syndrome (SWS) is a disease of dermatologic, neurologic, and ocular significance. 1 The most distinctive manifestation is facial capillary malformation, commonly referred to as a port-wine stain or nevus flammeus.

Screening MRI misses Sturge-Weber in babies with port-wine stain
Kari Oakes

Aug 7th, 2017 - CHICAGO – Screening infants with a port-wine stain for Sturge-Weber syndrome (SWS) with a magnetic resonance imaging brain scan had a 23% false-negative rate and actually delayed seizure detection, according to a recent study. When infants with po.

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Patient Education  1 results see all →