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Sturge Weber Syndrome

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Incidence of Sturge-Weber syndrome and associated ocular involvement in Olmsted County, Minnesota, United States.

Heba T Rihani, Lauren A Dalvin, David O Hodge, Jose S Pulido,

Background: Sturge-Weber syndrome (SWS) is a rare sporadic syndrome characterized by nevus flammeus (port-wine stain, PWS) in the trigeminal nerve distribution, diffuse choroidal hemangioma, and brain leptomeningeal hemangioma. We are unaware of previous reports of SWS incidence in the United States. This study investigated SWS incidence and associated ocular involvement ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :1-17]

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The role of adenosine A1 receptor agonist in adenosine augmentation therapy for patients with refractory epilepsy in Sturge-Weber syndrome: An in vitro electrophysiological study.

Xiongfei Wang, Lintian Cao, Yuguang Guan, Quansheng He, Xinghui He, Jian Zhou, Tianfu Li, Guoming Luan,

PURPOSES:This study was to further explore the adenosine dysfunction in refractory epilepsy in Sturge-Weber Syndrome (SWS), to evaluate the neuronal-level effect of the A1 receptor (A1R) agonist on both excitatory pyramidal neurons and inhibitory interneurons, to discuss the possibility of adenosine augmentation therapy (AAT) using A1R agonist for treating refractory ... Read more >>

Epilepsy Behav (Epilepsy & behavior : E&B)
[2020, 106:107034]

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Sturge-Weber syndrome coexisting with multiple vertebral vascular malformations and hemivertebra with scoliosis and upper limb and ear hypertrophy.

Angoori Gnaneshwar Rao, V Srikanth Reddy, M Divya Parimala, M Tejal, Kousar Fathima, Sunki Preeti, Jayasree Jhawar, Vidya Dharani, T Shruthi,

Indian J Dermatol Venereol Leprol (Indian journal of dermatology, venereology and leprology)
[2020, 86(2):187-190]

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Toward a better understanding of stroke-like episodes in Sturge-Weber syndrome.

Csaba Juhász,

Eur. J. Paediatr. Neurol. (European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society)
[2020, :]

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Cerebrofacial venous metameric syndrome-spectrum of imaging findings.

Waleed Brinjikji, Patrick Nicholson, Christopher A Hilditch, Timo Krings, Vitor Pereira, Ronit Agid,

Cerebrofacial venous metameric syndrome (CVMS) is a complex craniofacial vascular malformation disorder in which patients have a constellation of venous vascular malformations affecting soft tissues, bone, dura, and neural structures including the eye and brain. It is hypothesized that a somatic mutation responsible for the venous abnormalities occurred prior to ... Read more >>

Neuroradiology (Neuroradiology)
[2020, 62(4):417-425]

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Episcleral hemangioma distribution patterns could be an indicator of trabeculotomy prognosis in young SWS patients.

Yue Wu, Cheng Peng, Xuming Ding, Changjuan Zeng, Chang Cui, Li Xu, Na Du, Wenyi Guo,

PURPOSE:To explore the relationships between episcleral hemangioma distribution patterns and trabeculotomy prognosis in young Sturge-Weber syndrome (SWS) patients. METHODS:Sturge-Weber syndrome-induced glaucoma patients less than 4 years of age who underwent trabeculotomy in our Ophthalmology Department from February 2016 to June 2017 were included. Every patient could be divided into simple episcleral ... Read more >>

Acta Ophthalmol (Acta ophthalmologica)
[2020, :]

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Unusual Cause of Facial Asymmetry: Sturge-Weber Syndrome.

Hayri Ogul, Alper Kiziloglu,

Sturge-Weber syndrome is a rare neurocutaneous disease, also called encephalotrigeminal angiomatosis. In this study, we aimed to present a patient with Sturge-Weber syndrome who had atypical radiological findings and with dural arteriovenous fistula. The patient presented with hemifacial asymmetry. Sturge-Weber syndrome may present with atypical radiological findings and additional pathologies. ... Read more >>

J Craniofac Surg (The Journal of craniofacial surgery)
[2019, 30(7):e585-e586]

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Transient episodes of hemiparesis in Sturge Weber Syndrome - Causes, incidence and recovery.

Ricarda P Tillmann, Karen Ray, Sarah E Aylett,

INTRODUCTION:Sturge Weber Syndrome (SWS) arises from a sporadic condition secondary to a post zygotic mutation in the GNAQ gene, manifested in the majority of cases by capillary malformation of the skin. Children present with seizures, acquired hemiparesis, transient hemiparesis and intellectual disabilities. This project aimed to establish incidence of transient ... Read more >>

Eur. J. Paediatr. Neurol. (European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society)
[2019, :]

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Characteristic Cytokine Profiles of Aqueous Humor in Glaucoma Secondary to Sturge-Weber Syndrome.

Cheng Peng, Yue Wu, Xuming Ding, Di Chen, Changjuan Zeng, Li Xu, Wenyi Guo,

Patients with Sturge-Weber syndrome (SWS) are susceptible to ocular complications, and among them, glaucoma is one of the most frequent forms. In current study, we utilized multiplex human cytokine antibody array to simultaneously measure the concentration of 40 cytokines in aqueous humor (AH) of patients with SWS-induced glaucoma (SG), or ... Read more >>

Front Immunol (Frontiers in immunology)
[2020, 11:4]

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Sturge-Weber Syndrome Patient Registry: Delayed Diagnosis and Poor Seizure Control.

Soonweng Cho, Biswajit Maharathi, Karen L Ball, Jeffrey A Loeb, Jonathan Pevsner,

OBJECTIVE:To examine the symptomatology and treatment of Sturge-Weber syndrome (SWS) from a large patient registry to identify common symptoms, clinical outcomes, and areas of unmet clinical need. STUDY DESIGN:An online patient questionnaire was completed by 628 patients with clinically diagnosed SWS and/or a port-wine birthmark over a 19-year period. Statistical ... Read more >>

J. Pediatr. (The Journal of pediatrics)
[2019, 215:158-163.e6]

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Risk factors and results of hemispherotomy reoperations in children.

Marcelo Volpon Santos, Thiago Lyrio Teixeira, Enrico Salomao Ioriatti, Ursula Thome, Ana Paula de Andrade Hamad, Helio Rubens Machado,

OBJECTIVE:The goal of this study was to perform an analysis of a single-center experience with hemispherotomy reoperations for refractory hemispheric pediatric epilepsy due to persistence of seizures after initial surgery. The authors also identify possible anatomical and neurophysiological reasons for hemispherotomy failure, as well as risk factors and surgical options ... Read more >>

Neurosurg Focus (Neurosurgical focus)
[2020, 48(4):E5]

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A rare case of phakomatosis pigmentovascularis type IIb associated with inverse Klippel-Trenaunay syndrome and Sturge-Weber syndrome.

Lian Liu, Jiayu Sun, Yunlong Pan, Xian Jiang,

Indian J Dermatol Venereol Leprol (Indian journal of dermatology, venereology and leprology)
[2019, 85(6):618-620]

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Effect of changing the analyzed image contrast on the accuracy of intracranial volume extraction using Brain Extraction Tool 2.

Masami Goto, Akifumi Hagiwara, Ayumi Kato, Shohei Fujita, Masaaki Hori, Koji Kamagata, Shigeki Aoki, Osamu Abe, Hajime Sakamoto, Yasuaki Sakano, Shinsuke Kyogoku, Hiroyuki Daida,

The aim of this study was to evaluate the effect of changing the contrast of an analyzed image on the accuracy of intracranial volume (ICV) extraction using the Brain Extraction Tool (BET2) in healthy adults and patients with Sturge-Weber syndrome (SWS), including infants. Twelve SWS patients, including infants, and 12 ... Read more >>

Radiol Phys Technol (Radiological physics and technology)
[2020, 13(1):76-82]

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Choroidal detachment with exudative retinal detachment following Ahmed valve implantation in Sturge-Weber syndrome.

Bipul Kumer De Sarker, Ginger Helen, Mohammad Ibn Abdul Malek, Abdullahi Sadiq, Zafrul Hassan, Jahangir Kabir, Sarat Badmus, Iftekhar Sazzad, Mostafizur Rahman, Mallika Mahatma, Abdus Salam,

Ahmed glaucoma valve implant appears to be a relatively useful drainage device in eyes with glaucoma secondary to Sturge-Weber syndrome (SWS). However, early postoperative choroidal and exudative retinal detachment may occur from a rapid expansion of the choroidal hemangioma with effusion of fluid into the suprachoroidal and subretinal spaces. We ... Read more >>

GMS Ophthalmol Cases (GMS ophthalmology cases)
[2019, 9:Doc33]

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Postpartum psychosis in Sturge-Weber syndrome: A case report.

Anantprakash Siddharthkumar Saraf, Sneh S Babhulkar, Vivek P Joge,

Indian J Psychiatry (Indian journal of psychiatry)
[2019, 61(6):649-650]

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Encephalocraniocutaneous lipomatosis: A rare congenital neurocutaneous syndrome.

Swasti Pathak, Anju Garg, Jyoti Kumar,

Encephalocraniocutaneous lipomatosis (ECCL) is a rare sporadic congenital neurocutaneous disorder with quite specific clinical features and neuroimaging pattern that is well seen on MR imaging. ... Read more >>

Radiol Case Rep (Radiology case reports)
[2020, 15(5):576-579]

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Multifocal circumscribed choroidal hemangioma: a rare occurrence.

Vijitha S Vempuluru, Swathi Kaliki,

A 32-year-old Asian-Indian woman presented with painless diminution of vision in her left eye (oculus sinister (OS)) and fundus examination OS revealed a large dome-shaped orangish-red subretinal lesion at the macula along with a smaller lesion on the superotemporal arcade. Indocyanine green angiography and optical coherence tomography features confirmed the ... Read more >>

BMJ Case Rep (BMJ case reports)
[2020, 13(2):]

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Maternal smoking during pregnancy and risk of phacomatoses: results from a Swedish register-based study.

Giorgio Tettamanti, Hanna Mogensen, Ann Nordgren, Maria Feychting,

Background and aim:Phacomatoses are genetic syndromes often associated with an increased risk of a variety of malignant and benign neoplasms, including nervous system tumors. Little is known about the causes of de novo occurrences of phacomatoses. Therefore, the aim of this study was to assess the association between maternal smoking ... Read more >>

Clin Epidemiol (Clinical Epidemiology)
[2019, 11:793-800]

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Unilateral Allergic Dermatitis to Timolol in Eye Drops for Treating Glaucoma in a Patient With Sturge-Weber Syndrome and a Choroidal Hemangioma.

Dimitra Koumaki, David Orton,

Dermatitis (Dermatitis : contact, atopic, occupational, drug)
[2019, 30(6):373-374]

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GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of Gα/11Mosaicism and the Associated Clinical Diagnoses.

Satyamaanasa Polubothu, Lara Al-Olabi, Maria Carmen Del Boente, Alisha Chacko, Georgios Eleftheriou, Mary Glover, David Jiménez-Gallo, Elizabeth A Jones, Debra Lomas, Regina Fölster-Holst, Samira Syed, Monika Tasani, Anna Thomas, Martin Tisdall, Antonio Torrelo, Sarah Aylett, Veronica A Kinsler,

J. Invest. Dermatol. (The Journal of investigative dermatology)
[2019, :]

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Atypical Intracerebral Developmental Venous Anomalies in Sturge-Weber Syndrome: A Case Series and Review of Literature.

Aimen S Kasasbeh, Amit Kalaria, Anne M Comi, Warren Lo, Doris D M Lin,

BACKGROUND:Intracranial vascular abnormalities in Sturge-Weber syndrome, including leptomeningeal angiomatosis, anomalous cortical venous structures, and transmedullary developmental venous anomalies, are well recognized. Prominent vascular flow voids on T2-weighted magnetic resonance imaging (MRI) are occasionally identified in patients with Sturge-Weber syndrome, raising concern of arteriovenous malformations, a congenital high-flow vascular malformation with ... Read more >>

Pediatr. Neurol. (Pediatric neurology)
[2020, 104:54-61]

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Ocular manifestations of Sturge-Weber syndrome.

Marlee Silverstein, Jonathan Salvin,

PURPOSE OF REVIEW:Sturge-Weber syndrome (SWS) is a rare, congenital disease which frequently involves the eye. It is important that ophthalmologists recognize this syndrome and are aware of its range of ocular manifestations. The aim of this article is to present our understanding of the pathogenesis and clinical manifestations of this ... Read more >>

Curr Opin Ophthalmol (Current opinion in ophthalmology)
[2019, 30(5):301-305]

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Disorders Caused by Genetic Mosaicism.

Ute Moog, Ute Felbor, Cristina Has, Birgit Zirn,

BACKGROUND:Genetic mosaics arise through new mutations occurring after fertiliza- tion (i.e., postzygotic mutations). Mosaics have been described in recent years as the cause of many different disorders; many of these are neurocutaneous diseases and syndromal developmental disorders, each with a characteristic phenotype. In some of these disorders, there is a ... Read more >>

Dtsch Arztebl Int (Deutsches Arzteblatt international)
[2020, 116(8):119-125]

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Ethanol combined with coil embolisation for the treatment of arteriovenous malformations in a patient with Parkes Weber syndrome.

Q Zhao, Lian Liu, Z Liao, Y Pan, Jingyan Liu, X Jiang,

Parkes Weber syndrome is a rare congenital condition of the vascular system with severe symptoms and life-threatening complications. The challenge is to manage the arteriovenous malformations, and there is no consensus on optimal treatment. We report the case of an 18-year-old woman with Parkes Weber syndrome who was treated with ... Read more >>

Ann R Coll Surg Engl (Annals of the Royal College of Surgeons of England)
[2020, 102(3):e54-e56]

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Neurological Complications of Sturge-Weber Syndrome: Current Status and Unmet Needs.

Aimee F Luat, Csaba Juhász, Jeffrey A Loeb, Harry T Chugani, Stephen J Falchek, Badal Jain, Carol Greene-Roethke, Catherine Amlie-Lefond, Karen L Ball, Amy Davis, Anna Pinto,

OBJECTIVE:We aimed to identify the current status and major unmet needs in the management of neurological complications in Sturge-Weber syndrome. METHODS:An expert panel consisting of neurologists convened during the Sturge-Weber Foundation Clinical Care Network conference in September 2018. Literature regarding current treatment strategies for neurological complications was reviewed. RESULTS:Although strong ... Read more >>

Pediatr. Neurol. (Pediatric neurology)
[2019, 98:31-38]

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