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Sturge Weber

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https://www.readbyqxmd.com/read/29769188/sturge-weber-syndrome-associated-glaucoma-and-intraocular-osseous-metaplasia-a-unique-complicated-case
#1
Dmytro Pavlenko, Tetiana Scovpen, Oksana Vitovska
A 30-year-old European man was admitted to our centre complaining about severe pain of the right eye (OD) and right part of the face, redness and no vision of the OD. He had an 18-year history of secondary to Sturge-Weber syndrome glaucoma, 6-month history of red eye and 1-week history of pain in OD. The best-corrected visual acuity was no light perception OD and 20/20 OS. Intraocular pressure was 36 mm Hg OD. Examination revealed endophthalmitis, Sturge-Weber syndrome-associated glaucoma and complicated cataract of OD...
May 16, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29753575/quantitative-apparent-diffusion-coefficient-mapping-may-predict-seizure-onset-in-children-with-sturge-weber-syndrome
#2
Anna L R Pinto, Yangming Ou, Mustafa Sahin, P Ellen Grant
BACKGROUND: Sturge-Weber syndrome (SWS) is often accompanied by seizures, stroke-like episodes, hemiparesis, and visual field deficits. This study aimed to identify early pathophysiologic changes that exist before the development of clinical symptoms and to evaluate if the apparent diffusion coefficient (ADC) map is a candidate early biomarker of seizure risk in patients with SWS. METHODS: This is a prospective cross-sectional study using quantitative ADC analysis to predict onset of epilepsy...
April 12, 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29725622/somatic-gnaq-mutation-in-the-forme-fruste-of-sturge-weber-syndrome
#3
Michael S Hildebrand, A Simon Harvey, Stephen Malone, John A Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C Jones, Greta Gillies, Kate Pope, Paul J Lockhart, Alexander Dobrovic, Richard J Leventer, Ingrid E Scheffer, Samuel F Berkovic
Objective: To determine whether the GNAQ R183Q mutation is present in the forme fruste cases of Sturge-Weber syndrome (SWS) to establish a definitive molecular diagnosis. Methods: We used sensitive droplet digital PCR (ddPCR) to detect and quantify the GNAQ mutation in tissues from epilepsy surgery in 4 patients with leptomeningeal angiomatosis; none had ocular or cutaneous manifestations. Results: Low levels of the GNAQ mutation were detected in the brain tissue of all 4 cases-ranging from 0...
June 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29687028/deep-cerebral-vein-expansion-with-metabolic-and-neurocognitive-recovery-in-sturge-weber-syndrome
#4
Flóra John, Mohsin Maqbool, Jeong-Won Jeong, Rajkumar Agarwal, Michael E Behen, Csaba Juhász
We present longitudinal imaging data of a child with Sturge-Weber syndrome (SWS). At age 8 months, 3 weeks after initial seizures and prolonged motor deficit, MRI showed extensive right hemispheric SWS involvement with severe glucose hypometabolism on PET. She was treated with levetiracetam and aspirin. Follow-up imaging at age 29 months showed a robust interval expansion of enlarged deep medullary veins throughout the affected hemisphere along with a dramatic recovery of hemispheric metabolism and normalized neurocognitive functioning...
April 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29674168/spikes-might-precede-seizures-and-predict-epilepsy-in-children-with-sturge-weber-syndrome-a-pilot-study
#5
Claire Bar, Anna Kaminska, Rima Nabbout
PURPOSE: Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by a facial port-wine stain, a glaucoma, and a leptomeningeal angioma. Epilepsy occurs in more than 75% of affected children, and seizures occurring in the first year of life are associated with a poor neurological prognosis. The aim of this study was to identify possible predictive markers of epilepsy on electroencephalogram (EEG) performed prior to seizure onset in children with SWS. METHODS: This study included children with a diagnosis of SWS who had an EEG performed prior to seizure onset...
March 28, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29620010/epilepsy-surgery-for-patients-with-genetic-refractory-epilepsy-a-systematic-review
#6
Remi Stevelink, Maurits Wcb Sanders, Maarten P Tuinman, Eva H Brilstra, Bobby Pc Koeleman, Floor E Jansen, Kees Pj Braun
In recent years, many different DNA mutations underlying the development of refractory epilepsy have been discovered. However, genetic diagnostics are still not routinely performed during presurgical evaluation and reports on epilepsy surgery outcome for patients with genetic refractory epilepsy are limited. We aimed to create an overview of the literature on seizure outcome following epilepsy surgery in patients with different genetic causes of refractory epilepsy. We systematically searched PubMed and Embase prior to January 2017 and included studies describing treatment outcome following epilepsy surgery in patients with genetic causes of epilepsy...
April 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29607552/pathophysiology-and-management-of-glaucoma-associated-with-phakomatoses
#7
REVIEW
Alisa T Thavikulwat, Deepak P Edward, Abdulrahman AlDarrab, Thasarat S Vajaranant
The phakomatoses, encephalotrigeminal angiomatosis (ETA; Sturge-Weber Syndrome), neurofibromatosis type 1 (NF1 or von Recklinghausen disease), Von Hippel-Lindau (VHL) disease, tuberous sclerosis (TSC), oculodermal melanocytosis (ODM), and phakomatosis pigmentovascularis are a group of neurocutaneous disorders that have characteristic systemic and ocular manifestations. Through many different mechanisms, they may cause glaucomatous damage of the optic nerve and subsequent vision loss varying from mild to severe...
April 1, 2018: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/29541691/acute-primary-angle-closure-in-sturge-weber-syndrome
#8
Wei-Wen Su
Purpose: Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by facial cutaneous venous dilatation (port-wine stain), leptomeningeal angioma, and ocular abnormalities. Here we report a case of SWS who experienced acute primary angle-closure in the same side of the nevus flammeus. Observations: A 64-years-old female patient with SWS port wine stain on the left side of her face was referred to our ER for acute primary angle-closure (PAC). The IOP was 64 mmHg in the left eye (12 mmHg in OD) and the visual acuity was 20/100...
June 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29518883/-research-progress-of-sturge-weber-syndrome-induced-glaucoma
#9
Y Wu, W Y Guo
Sturge-Weber Syndrome is a sporadic rare disease. Its characteristic feature of Port-wine Stain in patient's face has been an important indicator for screening secondary glaucoma, which further provides patients with possibility of early diagnosis and treatment of Sturge-Weber Syndrome induced glaucoma. This paper focuses on the pathogenesis, risk factors and treatment of Sturge-Weber Syndrome secondary glaucoma. (Chin J Ophthalmol, 2018, 54: 229-233) .
March 11, 2018: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29487815/trabeculectomy-with-ologen-implant-versus-mitomycin-c-in-congenital-glaucoma-secondary-to-sturge-weber-syndrome
#10
Thanaa Helmy Mohamed, Abdelrahman Gaber Salman, Riham Fawzy Elshinawy
AIM: To compare the efficacy and safety of collagen matrix implant [Ologen (OLO) implant] versus mitomycin C (MMC) with subscleral trabeculectomy (SST) for the surgical treatment of congenital glaucoma (CG) in Sturge-Weber Syndrome (SWS). METHODS: A prospective comparative randomized study of 20 eyes of 16 patients with CG associated with SWS was divided into two groups. The first group (MMC Group) included 10 eyes that were subjected to SST with MMC. The second group (OLO Group) included 10 eyes that were subjected to trabeculectomy with a collagen matrix implant (OLO implant)...
2018: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/29478617/von-hippel-lindau-disease-and-sturge-weber-syndrome
#11
Susan Perlman
The primary neurologic involvement in both von Hippel-Lindau (VHL) disease and Sturge-Weber syndrome (SWS) is vascular tumor/vascular malformation, but molecular pathogenesis, long-term symptom evolution, and treatment are quite different. VHL is caused by dominant inherited or de novo germline mutations, while SWS is caused by somatic mosaicism. A diagnosis of VHL carries substantial cancer risk, while the clinical issues in SWS are primarily related to the consequences of the intracranial vascular abnormalities...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29476210/a-child-with-apert-syndrome-and-sturge-weber-syndrome-could-fibronectin-or-the-ras-mapk-signaling-pathway-be-the-connection
#12
Ai Peng Tan, Wui Khean Chong
BACKGROUND: Apert syndrome is one of the most common craniosynostosis syndrome caused by mutation in genes encoding fibroblast growth factor receptor 2 (FGFR2). Craniosynostosis, midfacial hypoplasia, and syndactyly/symphalangism are features of this syndrome. Sturge-Weber syndrome (SWS) on the other hand is a congenital neurocutaneous disorder characterized by facial port-wine stains (PWSs) and leptomeningeal vascular capillary malformations. In 2013, the causative mutation underlying SWS (p...
February 23, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29432239/neurocutaneous-disorders
#13
Tena Rosser
PURPOSE OF REVIEW: This article presents an up-to-date summary of the genetic etiology, diagnostic criteria, clinical features, and current management recommendations for the most common neurocutaneous disorders encountered in clinical adult and pediatric neurology practices. RECENT FINDINGS: The phakomatoses are a phenotypically and genetically diverse group of multisystem disorders that primarily affect the skin and central nervous system. A greater understanding of the genetic and biological underpinnings of numerous neurocutaneous disorders has led to better clinical characterization, more refined diagnostic criteria, and improved treatments in neurofibromatosis type 1, Legius syndrome, neurofibromatosis type 2, Noonan syndrome with multiple lentigines, tuberous sclerosis complex, Sturge-Weber syndrome, and incontinentia pigmenti...
February 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29414553/cognitive-and-motor-outcomes-in-children-with-unilateral-sturge-weber-syndrome-effect-of-age-at-seizure-onset-and-side-of-brain-involvement
#14
Aimee F Luat, Michael E Behen, Harry T Chugani, Csaba Juhász
PURPOSE: Most children with Sturge-Weber syndrome (SWS) develop seizures that may contribute to neurocognitive status. In this study, we tested the hypothesis that very early seizure onset has a particularly detrimental effect on the cognitive and/or motor outcomes of children with unilateral SWS. We also tested whether side of SWS brain involvement modulates the effect of seizure variables on the pattern of cognitive abnormalities. METHODS: Thirty-four children (22 girls; mean age 6...
March 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29403070/results-of-external-beam-radiotherapy-for-diffuse-choroidal-hemangiomas-in-sturge-weber-syndrome
#15
Matthieu Randon, Christine Lévy-Gabriel, Rachid Abbas, Rémi Dendale, Livia Lumbroso, Laurence Desjardins, Nathalie Cassoux
PURPOSE: The Sturge-Weber Syndrome (SWS) is a phacomatosis which include facial nevus flammeus, glaucoma, diffuse choroidal hemangioma, and leptomeningeal hemangiomatosis. External beam radiotherapy (EBRT) using photons was used to treat retinal detachment. We investigate the anatomical and functional results in a long-term basis. METHODS: Retrospective review of SWS patients treated by EBRT (20 Gy in 10 fractions) for an exudative diffuse choroidal hemangioma...
February 6, 2018: Eye
https://www.readbyqxmd.com/read/29351940/angiodysplastic-sturge-weber-syndrome
#16
Ananthanaryanan Kasinathan, Arushi Gahlot Saini, Sameer Vyas, Pratibha Singhi
No abstract text is available yet for this article.
January 18, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29334124/use-of-antiviral-medications-in-drug-reaction-with-eosinophilia-and-systemic-symptoms-dress-a-case-of-infantile-dress
#17
Maggie L Chow, David Kim, Sonia Kamath, David Peng, Minnelly Luu
A 3-month-old girl with Sturge-Weber syndrome presented with a morbilliform rash, eosinophilia, and fulminant liver failure to our tertiary pediatric hospital. She was diagnosed with drug reaction with eosinophilia and systemic symptoms complicated by viremia and evidence of viral hepatitis on liver biopsy. We discuss the role of viral reactivation in drug reaction with eosinophilia and systemic symptoms and the relevance of antiviral therapy in management.
March 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29280366/outcomes-of-infantile-onset-glaucoma-associated-with-port-wine-birthmarks-and-other-periocular-cutaneous-vascular-malformation
#18
Daniela Reyes-Capó, Kara M Cavuoto, Ta C Chang
PURPOSE: The incidence of infantile-onset secondary glaucoma associated with periocular cutaneous vascular malformations is high and the outcomes of these glaucomatous eyes have anecdotally been poor. The purpose of this study was to determine the anatomic and visual outcomes of affected eyes. DESIGN: Retrospective case series. METHODS: Consecutive patients with early-onset (younger than 36 months of age) glaucoma associated with cutaneous vascular malformations from 1995‒2015 were included...
March 2018: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/29274110/metabolic-correlates-of-cognitive-function-in-children-with-unilateral-sturge-weber-syndrome-evidence-for-regional-functional-reorganization-and-crowding
#19
Jeong-A Kim, Jeong-Won Jeong, Michael E Behen, Vinod K Pilli, Aimee Luat, Harry T Chugani, Csaba Juhász
To evaluate metabolic changes in the ipsi- and contralateral hemisphere in children showing a cognitive profile consistent with early reorganization of cognitive function, we evaluated the regional glucose uptake, interhemispheric metabolic connectivity, and cognitive function in children with unilateral SWS. Interictal 2-deoxy-2[18 F]fluoro-D-glucose (FDG)-PET scans of 27 children with unilateral SWS and mild epilepsy and 27 age-matched control (non-SWS children with epilepsy and normal FDG-PET) were compared using statistical parametric mapping (SPM)...
April 2018: Human Brain Mapping
https://www.readbyqxmd.com/read/29237924/glaucoma-in-patients-with-eyes-close-to-areas-affected-by-port-wine-stain-has-lateral-and-gender-predilection
#20
Yue Wu, Ru-Jing Yu, Di Chen, Li Xu, Mao Li, Li Zhu, Chun-Yu Guo, Wen-Yi Guo
BACKGROUND: The location of facial port-wine stain (PWS) may be helpful for predicting some associated anomalies; high glaucoma incidence is found in patients with eyes close to PWS-affected areas (V1, ophthalmic branch area of the trigeminal nerve). This study aimed to investigate the characteristics of glaucoma in V1-affected PWS. METHODS: A total of 569 patients with V1 area-affected PWS were reviewed in the study. The large series was based on the referral system between the Department of Plastic and Reconstructive Surgery and the Department of Ophthalmology...
December 20, 2017: Chinese Medical Journal
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