keyword
MENU ▼
Read by QxMD icon Read
search

sturge weber syndrome

keyword
https://www.readbyqxmd.com/read/29136059/concurrent-sturge-weber-syndrome-facial-infantile-hemangioma-and-cutis-marmorata-telangiectatica-congenita
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
https://www.readbyqxmd.com/read/28757309/reliability-and-clinical-correlation-of-transcranial-doppler-ultrasound-in-sturge-weber-syndrome
#16
Elizabeth A Offermann, Aditya Sreenivasan, M Robert DeJong, Doris D M Lin, Charles E McCulloch, Melissa G Chung, Anne M Comi
BACKGROUND: The reproducibility of transcranial Doppler (TCD) ultrasound measurements in Sturge-Weber syndrome (SWS) and TCD's ability to predict neurological progression is unknown. METHODS: 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. TCD was performed either once (n = 5) or twice in one day (n = 9)...
September 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28724825/a-rare-case-of-overlapping-sturge-weber-syndrome-and-klippel-trenaunay-syndrome-associated-with-bilateral-refractory-childhood-glaucoma
#17
Manju R Pillai, P P Hasini, Ashish Ahuja, S R Krishnadas
A 6-year-old girl presented with blurred vision and was found to have elevated intraocular pressure (IOP) and glaucomatous optic disc damage in both eyes. She also displayed capillary malformations on the face (port-wine stain), upper back and all four limbs, angiomatosis in the brain and had hypertrophy of the left upper and lower limbs typical of overlapping Sturge-Weber syndrome and Klippel-Trenaunay syndromes. She was initially managed with IOP lowering topical medications but required trabeculectomy in the right eye followed by Ahmed valve implantation in both eyes...
July 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28711177/size-of-facial-port-wine-birthmark-may-predict-neurologic-outcome-in-sturge-weber-syndrome
#18
Malgorzata Dymerska, Anna Y Kirkorian, Elizabeth A Offermann, Doris D Lin, Anne M Comi, Bernard A Cohen
OBJECTIVE: To determine whether the size of the birthmark in patients with Sturge-Weber syndrome (SWS) who have brain involvement can help predict neurologic disability. STUDY DESIGN: 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 validated SWS neuroimaging score. A pediatric neurologist prospectively assigned previously validated neurologic severity scores, based on seizures, hemiparesis, visual field cut, and cognitive impairments...
September 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28658923/sturge-weber-syndrome-a-case-study
#19
Mahesh Neerupakam, Podduturi Sanjay Reddy, Beeraboina Anand Babu, Guttikonda Vamsi Krishna
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 side and unilateral facial nevus that affects trigeminal nerve division...
May 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28584769/sturge-weber-syndrome-with-choroidal-hemangioma
#20
Koushik Tripathy, Anupam Das, Sweta Subhadarshani
No abstract text is available yet for this article.
May 2017: Indian Dermatology Online Journal
keyword
keyword
75226
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"