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About 1,208 results

ALLMedicine™ Sturge-Weber Syndrome Center

Research & Reviews  591 results

Choroidal melanoma in phakomatosis pigmentovascularis with overlapping Sturge-Weber syn...
https://doi.org/10.1097/ICB.0000000000001154
Retinal Cases & Brief Reports; Fry MV, Williams BK et. al.

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...

Current concepts on diffuse choroidal hemangioma in Sturge Weber syndrome.
https://doi.org/10.1080/13816810.2021.1910963
Ophthalmic Genetics; Formisano M, di Pippo MC et. al.

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 ...

Multicenter Research Data of Epilepsy Management in Patients With Sturge-Weber Syndrome.
https://doi.org/10.1016/j.pediatrneurol.2021.02.006
Pediatric Neurology; Smegal LF, Sebold AJ et. al.

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...

Somatic GNAQ R183Q mutation is located within the sclera and episclera in patients with...
https://doi.org/10.1136/bjophthalmol-2020-317287
The British Journal of Ophthalmology; Wu Y, Peng C et. al.

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...

Extent of Leptomeningeal Capillary Malformation is Associated With Severity of Epilepsy...
https://doi.org/10.1016/j.pediatrneurol.2020.12.012
Pediatric Neurology; Sugano H, Iimura Y et. al.

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...

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Clinicaltrials.gov  601 results

Choroidal melanoma in phakomatosis pigmentovascularis with overlapping Sturge-Weber syn...
https://doi.org/10.1097/ICB.0000000000001154
Retinal Cases & Brief Reports; Fry MV, Williams BK et. al.

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...

Current concepts on diffuse choroidal hemangioma in Sturge Weber syndrome.
https://doi.org/10.1080/13816810.2021.1910963
Ophthalmic Genetics; Formisano M, di Pippo MC et. al.

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 ...

Multicenter Research Data of Epilepsy Management in Patients With Sturge-Weber Syndrome.
https://doi.org/10.1016/j.pediatrneurol.2021.02.006
Pediatric Neurology; Smegal LF, Sebold AJ et. al.

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...

Somatic GNAQ R183Q mutation is located within the sclera and episclera in patients with...
https://doi.org/10.1136/bjophthalmol-2020-317287
The British Journal of Ophthalmology; Wu Y, Peng C et. al.

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...

Extent of Leptomeningeal Capillary Malformation is Associated With Severity of Epilepsy...
https://doi.org/10.1016/j.pediatrneurol.2020.12.012
Pediatric Neurology; Sugano H, Iimura Y et. al.

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...

see more →

News  15 results

Early referral recommended for high-risk port-wine stain cases
https://www.mdedge.com/neurology/article/150509/dermatology/early-referral-recommended-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
https://www.mdedge.com/dermatology/article/149291/pediatrics/irregular-erythematous-patch-face-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
https://www.mdedge.com/dermatology/article/148481/pigmentation-disorders/concurrent-sturge-weber-syndrome-facial-infantile/page/0/1

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.

Screening MRI misses Sturge-Weber in babies with port-wine stain
https://www.mdedge.com/neurology/article/144118/pediatrics/screening-mri-misses-sturge-weber-babies-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.

International Sturge-Weber Research Network Is Launched
https://www.mdedge.com/neurology/article/105112/rare-diseases/international-sturge-weber-research-network-launched

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.

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Patient Education  1 results see all →