ALLMedicine™ Sturge-Weber Syndrome Center

Apr 28th, 2021 - T' trunk, along with hemi-hypertrophy of the left side of the face and left upper limb, presented for evaluation of an intraocular mass of the left eye (OS). Anterior examination OS showed diffuse episcleral and iris melanocytosis. Fundus examinat...

Apr 12th, 2021 - Background: Diffuse choroidal hemangioma (DCH) is a benign vascular tumor that is characteristically found in the Sturge-Weber syndrome (SWS). Recent genetic discoveries demonstrate that DCH occurs sporadically from an activating mutation in GNAQ ...

Apr 4th, 2021 - Epilepsy in typical Sturge-Weber syndrome (SWS) is common, and many questions remain regarding the treatment outcomes. We analyzed a large multicenter database with focus on neurological drug treatment in different demographic and SWS characterist...

Mar 12th, 2021 - To determine the correspondence between GNAQ R183Q (c.548G＞A) mutation in abnormal scleral tissue of patients with Sturge-Weber syndrome (SWS) secondary glaucoma and explore the role of GNAQ R183Q in glaucoma pathogenesis. Episcleral tissues were...

Mar 7th, 2021 - Individuals with Sturge-Weber syndrome (SWS) often expereince intractable epilepsy and cognitive decline. We hypothesized that the extent of the leptomeningeal capillary malformation (LCM) may correlate with the severity of neurological impairment...

Apr 28th, 2021 - T' trunk, along with hemi-hypertrophy of the left side of the face and left upper limb, presented for evaluation of an intraocular mass of the left eye (OS). Anterior examination OS showed diffuse episcleral and iris melanocytosis. Fundus examinat...

Apr 12th, 2021 - Background: Diffuse choroidal hemangioma (DCH) is a benign vascular tumor that is characteristically found in the Sturge-Weber syndrome (SWS). Recent genetic discoveries demonstrate that DCH occurs sporadically from an activating mutation in GNAQ ...

Apr 4th, 2021 - Epilepsy in typical Sturge-Weber syndrome (SWS) is common, and many questions remain regarding the treatment outcomes. We analyzed a large multicenter database with focus on neurological drug treatment in different demographic and SWS characterist...

Mar 12th, 2021 - To determine the correspondence between GNAQ R183Q (c.548G＞A) mutation in abnormal scleral tissue of patients with Sturge-Weber syndrome (SWS) secondary glaucoma and explore the role of GNAQ R183Q in glaucoma pathogenesis. Episcleral tissues were...

Mar 7th, 2021 - Individuals with Sturge-Weber syndrome (SWS) often expereince intractable epilepsy and cognitive decline. We hypothesized that the extent of the leptomeningeal capillary malformation (LCM) may correlate with the severity of neurological impairment...

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 - Comment This case describes 3 different vascular malformations in the same patient. Cutis marmorata telangiectatica congenita is rare and yet is described in this patient along with 2 other notable endothelial abnormalities.

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.

Dec 11th, 2015 - The Sturge-Weber Foundation has announced the formation of the SWF International Research Network, an initiative to support international collaboration among medical experts and scientific researchers in the treatment of Sturge-Weber syndrome, por.