ALLMedicine™ Sturge-Weber Syndrome Center

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...

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...

Jun 1st, 2022 - Sturge-Weber syndrome (SWS) is a sporadic, congenital, neuro-cutaneous disorder characterized by a mosaic, capillary malformation. SWS and non-syndromic capillary malformations are both caused by a somatic activating mutation in GNAQ encoding the ...

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...

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...

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...

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:...

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...

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...

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...

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.

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.

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.

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.

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.