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Sturge-Weber Syndrome

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1. Acute primary angle-closure in Sturge-Weber syndrome Full Text available with Trip Pro

Acute primary angle-closure in Sturge-Weber syndrome 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.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 (...) the initial PAC attack. The post-op condition was smooth with 20/20 visual acuity, and the angle opened dramatically on anterior segment optical coherence tomography (AS-OCT). Her IOP was around 13 mmHg without medication and there was no more acute PAC attack.SWS with ipsilateral acute PAC has seldom been reported. Lens extraction and IOL implantation can be an option in treating such patients since conventional laser iridotomy may cause bleeding.

2018 American journal of ophthalmology case reports

2. Idiopathic inflammatory myopathy comorbid with Sturge-Weber syndrome: a case report. Full Text available with Trip Pro

Idiopathic inflammatory myopathy comorbid with Sturge-Weber syndrome: a case report. Sturge-Weber syndrome (SWS) is a rare and sporadic congenital neurocutaneous disorder, that is characterized by facial venous capillary malformation (port-wine birthmark), leptomeningeal venous malformation (angiomatosis), glaucoma, and neurologic problems. SWS can comorbid with other disorders in some patients, however, muscular abnormalities have still not been reported in patients with SWS.A forty-one-year

2019 BMC Neurology

3. Ocular manifestations of Sturge-Weber syndrome. (Abstract)

Ocular manifestations of Sturge-Weber syndrome. 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 syndrome and provide updated information on the treatment of SWS glaucoma and choroidal hemangioma.SWS glaucoma usually fails

2019 Current Opinion in Ophthalmology

4. Sturge-Weber Syndrome Patient Registry: Delayed Diagnosis and Poor Seizure Control. (Abstract)

Sturge-Weber Syndrome Patient Registry: Delayed Diagnosis and Poor Seizure Control. 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.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 analysis focused on seizures as a primary outcome measure, as well (...) as associated neurologic, ophthalmologic, and dermatologic attributes to understand some of the natural history of the disorder.The majority (92%) of patients had a port-wine birthmark, and 60% of the patients had neurologic symptoms, including seizures and stroke-like episodes. Glaucoma was present in 48% of the patients. Other common symptoms included behavioral (46%) and hearing (or vestibular) disorders (24%). Delayed diagnosis of SWS beyond 1 year after presentation of initial symptoms occurred in 16

2019 Journal of Pediatrics

5. Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge-Weber syndrome. Full Text available with Trip Pro

Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge-Weber syndrome. We aimed to evaluate the contribution of early magnetic resonance imaging (MRI) for the presymptomatic diagnosis of Sturge-Weber syndrome (SWS) in infants with a facial port-wine birthmark (PWB).Asymptomatic infants with a facial PWB who performed a first MRI scan before 3 months and a second MRI scan after 9 months were included in this study. Leptomeningeal (...) markers provide early diagnosis of leptomeningeal angioma in Sturge-Weber syndrome (SWS). Presymptomatic diagnosis of SWS should help to select patients for early therapy intervention.© 2019 Mac Keith Press.

2019 Developmental Medicine and Child Neurology

6. Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome Full Text available with Trip Pro

Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome 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.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.Low levels of the GNAQ mutation were detected in the brain (...) tissue of all 4 cases-ranging from 0.42% to 7.1% frequency-but not in blood-derived DNA. Molecular evaluation confirmed the diagnosis in 1 case in which the radiologic and pathologic data were equivocal.We detected the mutation at low levels, consistent with mosaicism in the brain or skin (1.0%-18.1%) of classic cases. Our data confirm that the forme fruste is part of the spectrum of SWS, with the same molecular mechanism as the classic disease and that ddPCR is helpful where conventional diagnosis

2018 Neurology: Genetics

7. Anesthesia Management of Vitrectomy in a Patient with Sturge-Weber Syndrome Full Text available with Trip Pro

Anesthesia Management of Vitrectomy in a Patient with Sturge-Weber Syndrome Sturge-Weber syndrome (SWS) is a neurocutaneous disorder, characterized by leptomeningeal angiomas involving the oral cavity, trachea, larynx, and face. Herein, we present a case of vitrectomy in a seven-year-old boy with SWS. The patient showed hemangioma on the left side of his face, as well as mental retardation and epilepsy. Preoperative examination revealed no apparent hemangioma in the oral cavity, pharynx, larynx

2018 Tanaffos

8. Trabeculectomy with Ologen implant versus mitomycin C in congenital glaucoma secondary to Sturge Weber Syndrome Full Text available with Trip Pro

Trabeculectomy with Ologen implant versus mitomycin C in congenital glaucoma secondary to Sturge Weber Syndrome 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).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

2018 International journal of ophthalmology Controlled trial quality: uncertain

9. Early Trabeculotomy Ab Externo in Treatment of Sturge-Weber Syndrome. (Abstract)

Early Trabeculotomy Ab Externo in Treatment of Sturge-Weber Syndrome. To evaluate the intermediate-term efficacy and safety of trabeculotomy in infant Sturge-Weber syndrome (SWS).Retrospective cohort study.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

2017 American Journal of Ophthalmology

10. Size of Facial Port-Wine Birthmark May Predict Neurologic Outcome in Sturge-Weber Syndrome. Full Text available with Trip Pro

Size of Facial Port-Wine Birthmark May Predict Neurologic Outcome in Sturge-Weber Syndrome. To determine whether the size of the birthmark in patients with Sturge-Weber syndrome (SWS) who have brain involvement can help predict neurologic disability.Fifty-one patients with SWS with facial birthmarks and brain involvement documented on magnetic resonance imaging were included in this retrospective chart review. A neuroradiologist, blinded to all clinical information, assigned a previously

2017 Journal of Pediatrics

11. Sturge-Weber Syndrome Full Text available with Trip Pro

Sturge-Weber Syndrome 28384923 2018 11 13 2249-782X 11 2 2017 Feb Journal of clinical and diagnostic research : JCDR J Clin Diagn Res Sturge-Weber Syndrome. OJ05-OJ06 10.7860/JCDR/2017/22731.9378 Chhabria Bharath A BA Junior Resident, Department of Internal Medicine, Post Graduate Institute of Medical Education and Research , Chandigarh, India . Subramanium Prasanth Bala PB Junior Resident, Department of Internal Medicine, Post Graduate Institute of Medical Education and Research , Chandigarh

2017 Journal of clinical and diagnostic research : JCDR

12. GNAQ mutation R183Q as a potential cause of familial Sturge-Weber syndrome: A case report Full Text available with Trip Pro

GNAQ mutation R183Q as a potential cause of familial Sturge-Weber syndrome: A case report Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder whose etiology remains unclear. To investigate the genetic contribution underlying this disease, the genetic variants of a 4-generation family with a history of SWS was analyzed in the present study. SWS was diagnosed in 3 of the family members (II-1, III-11 and IV-6). Sanger sequencing was performed to identify mutations in G protein subunit αq

2017 Oncology letters

13. Combined cilioretinal artery and hemi-retinal vein occlusion in Sturge Weber syndrome: Expanding the clinical spectrum Full Text available with Trip Pro

Combined cilioretinal artery and hemi-retinal vein occlusion in Sturge Weber syndrome: Expanding the clinical spectrum A 9-year-old boy with the diagnosis of Sturge-Weber Syndrome, and port-wine stain involving the right side of the face, presented with acute visual loss of the right eye. Examination revealed a high intraocular pressure and a combined cilioretinal artery and inferior hemi-retinal vein occlusion in the right eye. Systemic work-up was negative. After controlling the intraocular

2017 Saudi Journal of Ophthalmology

14. Sturge Weber Syndrome: A Case Study Full Text available with Trip Pro

Sturge Weber Syndrome: A Case Study The aim of this case review was to touch upon the various clinical presentations and diagnostic features of Sturge-Weber syndrome (SWS) as seen in the dental/medical practice. Sturge-Weber syndrome is a rare congenital disorder that belongs to a group of disorders collectively known as the phakomatoses. The characteristic pathological elements of the disease include leptomeninges angioma extending out to cerebral cortex with angiomatous lesions on the same (...) of SWS in order to identify and manage it appropriately. The challenge here is to see the oral manifestation as part of the syndrome and not as an isolated oral condition. Early diagnosis and appropriate treatment plan is imperative to prevent development of complications.

2017 Journal of clinical and diagnostic research : JCDR

15. Reliability and Clinical Correlation of Transcranial Doppler Ultrasound in Sturge-Weber syndrome Full Text available with Trip Pro

Reliability and Clinical Correlation of Transcranial Doppler Ultrasound in Sturge-Weber syndrome The reproducibility of transcranial Doppler (TCD) ultrasound measurements in Sturge-Weber syndrome (SWS) and TCD's ability to predict neurological progression is unknown.In 14 individuals with SWS, TCD measured mean flow velocity, pulsatility index, peak systolic velocity, and end-diastolic velocity in the middle, posterior, and anterior cerebral arteries of the affected and unaffected hemisphere

2017 Pediatric Neurology

16. Sturge-Weber Syndrome Associated with Monolateral Ocular Melanocytosis, Iris Mammillations, and Diffuse Choroidal Haemangioma Full Text available with Trip Pro

-Weber syndrome associated with ocular melanocytosis and iris mammillations is an extremely rare condition. This paper highlights the role of multi-imaging methods in the enhanced evaluation of rare diseases towards choosing the most appropriate management strategies and improving the follow-up of patients over time. (...) Sturge-Weber Syndrome Associated with Monolateral Ocular Melanocytosis, Iris Mammillations, and Diffuse Choroidal Haemangioma 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

2017 Case reports in ophthalmology

17. Cryotherapy as a conservative treatment modality for gingival enlargement in a patient with Sturge-Weber Syndrome Full Text available with Trip Pro

Cryotherapy as a conservative treatment modality for gingival enlargement in a patient with Sturge-Weber Syndrome This case report describes a case of Sturge-Weber syndrome reported for unilateral gingival enlargement and bleeding from gingiva in maxillary left region. Initial treatment in the form of scaling and root planing was done but recurrence was observed after one year of follow up. Instead of performing conventional surgery, an alternative conservative treatment was planned in the form

2017 Intractable & rare diseases research

18. Abnormal neurovascular coupling during status epilepticus migrainosus in Sturge-Weber syndrome Full Text available with Trip Pro

Neurology 0401060 0028-3878 AIM IM Adolescent Humans Male Migraine Disorders diagnostic imaging physiopathology Neurovascular Coupling physiology Positron-Emission Tomography Status Epilepticus diagnostic imaging physiopathology Sturge-Weber Syndrome diagnostic imaging physiopathology Tomography, Emission-Computed, Single-Photon 2016 07 18 2016 09 22 2016 12 3 6 0 2018 8 23 6 0 2016 12 2 6 0 ppublish 27903813 WNL.0000000000003492 10.1212/WNL.0000000000003492 PMC5224717 N Engl J Med. 2013 May 23;368(21 (...) Abnormal neurovascular coupling during status epilepticus migrainosus in Sturge-Weber syndrome 27903813 2018 08 22 2018 11 13 1526-632X 88 2 2017 01 10 Neurology Neurology Abnormal neurovascular coupling during status epilepticus migrainosus in Sturge-Weber syndrome. 209-211 10.1212/WNL.0000000000003492 Sethi Moksh M From The Florey Institute of Neuroscience and Mental Health (M.S., M.A.K., J.S.A., G.D.J.), The University of Melbourne, Parkville; and Austin Hospital (M.S., L.J.D., J.S.A., G.D.J

2017 Neurology

19. Imaging of Glutamate Concentration in Sturge-Weber Syndrome Full Text available with Trip Pro

Imaging of Glutamate Concentration in Sturge-Weber Syndrome Investigators from Wayne State University studied a cohort of children with Sturge-Weber syndrome (SWS) and epilepsy using both glucose-based positron emission tomography (FDG-PET) to evaluate metabolic activity and proton magnetic resonance spectroscopic imaging (MRSI) to evaluate glutamate turnover.

2017 Pediatric neurology briefs

20. Enlargement of deep medullary veins during the early clinical course of Sturge-Weber syndrome Full Text available with Trip Pro

Enlargement of deep medullary veins during the early clinical course of Sturge-Weber syndrome 27864521 2018 08 16 2018 11 13 1526-632X 88 1 2017 01 03 Neurology Neurology Enlargement of deep medullary veins during the early clinical course of Sturge-Weber syndrome. 103-105 10.1212/WNL.0000000000003455 Pilli Vinod K VK From Wayne State University (V.K.P., H.T.C., C.J.); Children's Hospital of Michigan (V.K.P., H.T.C., C.J.), Detroit; and Nemours/Alfred I. DuPont Hospital for Children (H.T.C (...) imaging pathology Positron-Emission Tomography Sturge-Weber Syndrome complications diagnostic imaging 2016 04 13 2016 09 22 2016 11 20 6 0 2018 8 17 6 0 2016 11 20 6 0 ppublish 27864521 WNL.0000000000003455 10.1212/WNL.0000000000003455 PMC5200860 Epilepsia. 2011 Jul;52(7):1265-72 21480889 Ann Neurol. 2009 Sep;66(3):271-83 19798638 Neuroradiology. 1996 Oct;38(7):621-8 8912316 AJNR Am J Neuroradiol. 2007 May;28(5):900-6 17494666 Curr Treat Options Neurol. 2008 Jan;10(1):47-54 18325299 J Clin Neurosci

2017 Neurology

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