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sturge weber syndrome

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https://www.readbyqxmd.com/read/29351940/angiodysplastic-sturge-weber-syndrome
#1
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
#2
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.
January 15, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29280366/outcomes-of-infantile-onset-glaucoma-associated-with-port-wine-birthmarks-and-other-periocular-cutaneous-vascular-malformations
#3
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...
December 27, 2017: 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
#4
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)...
December 23, 2017: 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
#5
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
https://www.readbyqxmd.com/read/29136059/concurrent-sturge-weber-syndrome-facial-infantile-hemangioma-and-cutis-marmorata-telangiectatica-congenita
#6
Nina Poliak, Anthony Rainey
We present a unique case of 3 vascular malformations-Sturge-Weber syndrome (SWS), facial infantile hemangioma (IH), and cutis marmorata telangiectatica congenita (CMTC)-with dermatologic manifestations presenting in the same patient. This case highlights the possibility of occurrence of multiple vascular malformations in the same patient; the potential role of epigenetic factors; and the importance of a multidisciplinary approach to diagnose, treat, and manage this complicated interplay of vascular abnormalities to achieve the best outcome...
October 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/29076120/h-abc-presenting-as-asymmetric-dystonia-in-a-patient-with-sturge-weber-syndrome
#7
Mauricio R Delgado, Zurisadai Gonzalez-Castillo
No abstract text is available yet for this article.
October 26, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/29050188/-sturge-weber-syndrome-in-port-wine-stain-patients-a-retrospective-study-on-the-clinical-features-and-screening-strategy
#8
Y Wu, R J Yu, X X Lin, W Y Guo
Objective: To investigate the clinical characteristics of Sturge-Weber syndrome (SWS) in the patients with Port-wine stain (PWS). Methods: A total of 279 PWS patients, 164 males, 115 females with a median age of first visit 17.00 (4.75, 56.00) months. Most of the PWS patients were referred to the Ophthalmology Department for screening eye problems when the cutaneous angiomas involved the ophthalmic division of the trigeminal nerve distribution. The intraocular pressure (IOP), cup to disk ratio (C/D), corneal condition and other essential measurements were examined to screen glaucoma or choroidal hemangioma...
October 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29050067/-neuropathologic-findings-in-intractable-epilepsy-a-clinicopathologic-analysis-of-822-cases
#9
Z J Duan, K Yao, J Zhou, L Li, F Zhai, C Q Liu, Z Ma, Y Bian, G M Luan, X L Qi
Objective: To investigate the clinicopathologic characteristics of intractable epilepsy. Methods: Based on the classification criteria proposed by the International League Against Epilepsy (ILAE), a retrospective analysis of the pathological characteristics was done in 822 patients who underwent epilepsy surgery in Sanbo Brain Hospital, Capital Medical University, from June 2008 to December 2012. Results: The mean age of epilepsy onset was 9.9 years, mean duration of epilepsy was 11.9 years. Complex partial seizures were the main presenting features...
October 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/29034507/screening-for-sturge-weber-syndrome-a-state-of-the-art-review
#10
REVIEW
Michaela Zallmann, Richard J Leventer, Mark T Mackay, Michael Ditchfield, Philip S Bekhor, John C Su
Infants with a high-risk distribution of port-wine stains are commonly screened for Sturge-Weber syndrome using brain magnetic resonance imaging. There is no consensus about which port-wine stain phenotypes to screen, optimal timing, screening sensitivity, or whether presymptomatic diagnosis improves neurodevelopmental outcomes. This state-of-the-art review examines the evidence in favor of screening for Sturge-Weber syndrome, based on its effect on neurodevelopmental outcomes, against the risks and limitations of screening magnetic resonance imaging and electroencephalography...
October 16, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28987170/neuropathology-of-epilepsy
#11
Eleonora Aronica, Angelika Mühlebner
Epilepsy is one of the most common neurologic disorders, affecting about 50 million people worldwide. The disease is characterized by recurrent seizures, which are due to aberrant neuronal networks resulting in synchronous discharges. The term epilepsy encompasses a large spectrum of syndromes and diseases with different etiopathogenesis. The recent development of imaging and epilepsy surgery techniques is now enabling the identification of structural abnormalities that are part of the epileptic network, and the removal of these lesions may result in control of seizures...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28978576/bilateral-intracranial-calcifications-with-bilateral-facial-cutaneous-naevus-sturge-weber-syndrome
#12
Muhammad Arif Saeed, Kiran Hilal, Prem Chand
Sturge Weber syndrome also known as mother spot disease belongs to a group of disorders called phakomatoses (neurocutaneous syndromes involving the central nervous and cutaneous systems). It is a congenital disorder of the vasculature of the meninges, brain, face and eyes. Clinically, it usually presents with seizures and other neurological complications, including mental retardation, contralateral hemiparesis and glaucoma. Its incidence is estimated at one case in 20 000-50 000 persons with equal frequency in boys and girls...
October 4, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28941044/potential-biological-targets-for-bioassay-development-in-drug-discovery-of-sturge-weber-syndrome
#13
REVIEW
Fatemeh Mohammadipanah, Fatemeh Salimi
Sturge-Weber Syndrome (SWS) is a neurocutaneous disease with clinical manifestations including ocular (glaucoma), cutaneous (port-wine birthmark), neurologic (seizures), and vascular problems. Molecular mechanisms of SWS pathogenesis are initiated by the somatic mutation in GNAQ. Therefore, no definite treatments exist for SWS and treatment options only mitigate the intensity of its clinical manifestations. Biological assay design for drug discovery against this syndrome demands comprehensive knowledge on mechanisms which are involved in its pathogenesis...
September 21, 2017: Chemical Biology & Drug Design
https://www.readbyqxmd.com/read/28937525/choroidal-melanoma-in-phakomatosis-pigmentovascularis-with-klippel-trenaunay-syndrome
#14
Carol L Shields, Maura Di Nicola, Marco Pellegrini, Jerry A Shields
PURPOSE: To describe the relationship of choroidal melanoma with phakomatosis pigmentovascularis in patients with Klippel-Trenaunay syndrome. METHODS: Retrospective review of 5 patients. RESULTS: In all 5 cases, the patient was white and the cutaneous port-wine stain was congenital. The port-wine stain involved the chin (n = 1), jawline (n = 2), lower cheek (n = 1), thorax (n = 5), abdomen (n = 4), upper (n = 4), and lower (n = 3) limb(s)...
September 20, 2017: Retina
https://www.readbyqxmd.com/read/28885669/long-term-intraocular-pressure-after-combined-trabeculotomy-trabeculectomy-in-glaucoma-associated-with-sturge-weber-syndrome
#15
Devindra Sood, Aanchal Rathore, Ishaana Sood, Dinesh Kumar, Narender N Sood
PURPOSE: Vision loss in Sturge-Weber syndrome (SWS), a rare congenital disorder, is primarily due to glaucoma. METHODS: We reviewed the data of all consecutive SWS-associated glaucoma cases in patients who had undergone combined trabeculotomy-trabeculectomy (CTT) at a tertiary glaucoma facility between January 1993 and December 2015. We analyzed the preoperative and postoperative intraocular pressure (IOP), corneal clarity, visual acuity, success rate, need for repeat surgery, and number of topical antiglaucoma medications needed at last follow-up...
September 7, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28868033/sturge-weber-syndrome-associated-with-monolateral-ocular-melanocytosis-iris-mammillations-and-diffuse-choroidal-haemangioma
#16
Andrea Maria Plateroti, Rocco Plateroti, Roberto Mollo, Aloisa Librando, Maria Teresa Contestabile, Vito Fenicia
We present the case of a 12-year-old boy with Sturge-Weber syndrome and ocular melanocytosis who presented with bilateral naevus flammeus of the face and hyperpigmentation of the right iris associated with ipsilateral iris mammillations. The patient had glaucoma and a diffuse choroidal haemangioma of the right eye. Optical coherence tomography of the anterior segment confirmed iris hyper-pigmentation and did not show abnormalities of the chamber angle structures. B-scan ultrasonography and enhanced depth imaging optical coherence tomography were performed and showed a marked difference in thickness and reflectance between the right and left choroid...
May 2017: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28866667/a-modified-technique-for-the-transconjunctival-and-sutureless-external-drainage-of-subretinal-fluid-in-bullous-exudative-retinal-detachment-using-a-24-g-i-v-catheter
#17
Jie Peng, Qi Zhang, Haiying Jin, Ping Fei, Peiquan Zhao
PURPOSE: To present the use of a 24-G Optiva® i.v. catheter for external drainage of subretinal fluid (SRF) in bullous exudative retinal detachment (RD). METHODS: Thirteen eyes with bullous exudative RD were included in our study. SRF drainage was accomplished via a transconjunctival scleral incision with a 24-G catheter followed by laser treatment, vitrectomy, or anti-VEGF treatment, as needed. Data on age, indications, visual acuities, the number of drainage times, drainage duration, complications, and fundoscopy were collected...
2017: Ophthalmologica. Journal International D'ophtalmologie
https://www.readbyqxmd.com/read/28854093/sturge-weber-syndrome
#18
Shivang Desai, Charles Glasier
A 6-year-old girl was brought to the emergency department after the sudden onset of weakness in the left arm and leg. She also reported a 2-day history of pain in her right eye. No seizure activity had been witnessed. She had a nonpalpable red lesion on the right side of her face, and the..
August 31, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28807733/early-trabeculotomy-ab-externo-in-treatment-of-sturge-weber-syndrome
#19
Yue Wu, Rujing Yu, Di Chen, Li Xu, Li Zhu, Mao Li, Chunyu Guo, Ping Gu, Xiaoxi Lin, Wenyi Guo
PURPOSE: To evaluate the intermediate-term efficacy and safety of trabeculotomy in infant Sturge-Weber syndrome (SWS). DESIGN: Retrospective cohort study. METHODS: All SWS-induced glaucoma patients less than 12 months of age who underwent trabeculotomy at our Ophthalmology Department from August 2011 to March 2017 were reviewed. Baseline demographics, intraocular pressure (IOP), cup-to-disc ratio (C/D), and cornea diameters were noted before surgery...
October 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28782176/co-occurrence-of-sturge-weber-syndrome-and-klippel-trenaunay-weber-syndrome-phenotype-consideration-of-the-historical-aspect
#20
Yuri Sakaguchi, Toshiki Takenouchi, Tomoko Uehara, Kazuo Kishi, Takao Takahashi, Kenjiro Kosaki
No abstract text is available yet for this article.
August 6, 2017: American Journal of Medical Genetics. Part A
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