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This page shows you the latest news and research items in this category.

Researchers Pinpoint Genetic Cause Of Sturge-Weber Syndrome And Port-Wine Stain Birthmarks
In new findings published in the New England Journal of Medicine (Epub ahead of print), researchers from the Kennedy Krieger Institute reveal the discovery of the cause - a genetic mutation that occurs before birth - of Sturge-Weber syndrome (SWS) and port-wine stain birthmarks. SWS is a rare disorder affecting approximately one in 20,000 births, while port-wine birthmarks are more common, affecting approximately one million individuals in the United States... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - May 10, 2013 Category: Consumer Health News Tags: Genetics Source Type: news

Mutation Responsible For Port-Wine Birthmarks And Sturge-Weber Syndrome Identified
Researchers have identified the genetic mutation that occurs before birth responsible for the development of Sturge-Weber syndrome and port-wine birthmarks. Pinpointing the genetic cause behind this rare disorder and a common birthmark has been described by experts as "a major breakthrough". The study, published in the New England Journal of Medicine, explains the mutations responsible for Sturge-Weber syndrome and port-wine birthmarks, which could pave the way for future treatment options. Co-senior study author, Anne Comi, M.D... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - May 10, 2013 Category: Consumer Health News Tags: Dermatology Source Type: news

Researchers Pinpoint Cause of Port-Wine Stain Birthmarks
Single, random change to gene during fetal development causes birthmarks and the more serious Sturge-Weber syndrome (Source: WebMD Health)
Source: WebMD Health - May 8, 2013 Category: Consumer Health News Source Type: news

Birthmark Has Genetic Ties to Neural Syndrome (CME/CE)
(MedPage Today) -- The same genetic mutation causes both uncomplicated port-wine stains and Sturge-Weber syndrome, which is characterized by the same staining plus leptomeningeal vascular abnormalities, researchers reported. (Source: MedPage Today Neurology)
Source: MedPage Today Neurology - May 8, 2013 Category: Neurology Source Type: news

Researchers Pinpoint Cause of Port-Wine Stain Birthmarks
Single, random change to gene during fetal development causes birthmarks and the more serious Sturge-Weber syndrome Source: HealthDay Related MedlinePlus Pages: Birthmarks, Genes and Gene Therapy (Source: MedlinePlus Health News)
Source: MedlinePlus Health News - May 8, 2013 Category: Consumer Health News Source Type: news

Discovery of gene mutation causing Sturge-Weber syndrome, port-wine stain birthmarks offers new hope
(Kennedy Krieger Institute) In new findings published in the New England Journal of Medicine (Epub ahead of print), researchers from the Kennedy Krieger Institute reveal the discovery of the cause -- a genetic mutation that occurs before birth -- of Sturge-Weber syndrome (SWS) and port-wine stain birthmarks. SWS is a rare disorder affecting approximately one in 20,000 births, while port-wine birthmarks are more common, affecting approximately one million individuals in the United States. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - May 8, 2013 Category: Global & Universal Source Type: news

A clinician's dilemma: Sturge-Weber syndrome 'without facial nevus'!!
Sujit A Jagtap, G Srinivas, Ashalatha Radhakrishnan, KJ HarshaAnnals of Indian Academy of Neurology 2013 16(1):118-120Sturge-Weber syndrome (SWS) is a rare, sporadic neurocutaneous syndrome characterized by a classical triad of facial port wine nevus, ipsilateral leptomeningeal angiomatosis (LAM) and glaucoma. The incidence of SWS is 1/50,000 live births, although it is more often underreported. The incidence of SWS without facial nevus is not known, although very few patients without facial nevus have been reported. In these patients, the diagnosis of SWS is made by the findings of computed tomography, magnetic resonance ...
Source: Annals of Indian Academy of Neurology - February 25, 2013 Category: Neurology Authors: Sujit A JagtapG SrinivasAshalatha RadhakrishnanKJ Harsha Source Type: research

[Transient focal deficits in children with Sturge-Weber syndrome].
PMID: 23400654 [PubMed - in process] (Source: Revista de Neurologia)
Source: Revista de Neurologia - February 16, 2013 Category: Neurology Authors: Tomas-Vila M, Menor-Serrano F, Arcos-Machancoses JV, Garcia-Camunas Y, Pitarch-Castellanos I, Barbero P Tags: Rev Neurol Source Type: research

Atypical Sturge-Weber syndrome requires confirmation.
PMID: 23352290 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - January 23, 2013 Category: Neurology Authors: Zhou C, Zhu L, Wu J, Fang S Tags: Eur J Paediatr Neurol Source Type: research

Atypical Imaging Evolution of Sturge-Weber Syndrome Without Facial Nevus
We report a patient with Sturge-Weber syndrome without facial angioma, who presented with seizures and normal initial imaging results. The patient experienced several years without seizures before a sudden increase in seizure frequency, followed by an atypical evolution of imaging findings prompting biopsy to establish the diagnosis. This case highlights not only the rare presentation of isolated leptomeningeal angiomatosis, but also the potential for atypical evolution of imaging findings through the course of the disease. We detail the imaging findings of our case and review the potential pathophysiological basis for thi...
Source: Pediatric Neurology - January 21, 2013 Category: Neurology Authors: Rebecca R. Luke, Saleem I. Malik, Angel W. Hernandez, David J. Donahue, M. Scott Perry Tags: Case Reports Source Type: research

Syndromes Associated with Vascular Tumors and Malformations: A Pictorial Review [Multisystem Radiology]
Use of the International Society for the Study of Vascular Anomalies (ISSVA) classification system has been strongly recommended in recent years because of the need for separate therapeutic measures for patients with vascular tumors and malformations. In the ISSVA classification system, vascular tumors, which are neoplastic, are distinguished from vascular malformations, which are caused by vascular structural anomalies and are not neoplastic, on the basis of the presence or absence of neoplastic proliferation of vascular endothelial cells. It is important that radiologists be familiar with the development, diagnosis, and ...
Source: Radiographics recent issues - January 15, 2013 Category: Radiology Authors: Nozaki, T., Nosaka, S., Miyazaki, O., Makidono, A., Yamamoto, A., Niwa, T., Tsutsumi, Y., Aida, N., Masaki, H., Saida, Y. Tags: Musculoskeletal Radiology, Vascular Imaging, General Multisystem Radiology Source Type: research

Big epilepsy surgery for little people: What's the full story on hemispherectomy?
Hemispherectomy is the most dramatic type of brain resection performed for epilepsy. Introduced by McKenzie in 1938,1 it is indicated for intractable seizures that predominantly first occur in infancy and early childhood, arise diffusely from one hemisphere, and are associated with unihemispheric insults. These include hemimegalencephaly, other multilobar cortical dysplasias, perinatal strokes, Sturge-Weber syndrome, and Rasmussen encephalitis. Improvements in surgical techniques and patient selection criteria have resulted in lower complication rates, including lower mortality. Because hemispherectomy is often performed i...
Source: Neurology - January 14, 2013 Category: Neurology Authors: Wiebe, S., Berg, A. T. Tags: All Pediatric, EEG; see Epilepsy/Seizures, Epilepsy surgery EDITORIALS Source Type: research

Atypical Sturge-Weber syndrome requires confirmation (Reply to Zhou et al.).
PMID: 23294603 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - January 4, 2013 Category: Neurology Authors: Siri L, Pinelli L, Giordano L, Tassi L, Striano P Tags: Eur J Paediatr Neurol Source Type: research

Behavioral and academic problems in children with Sturge-Weber syndrome: Differences between children with and without seizures.
Abstract Although Sturge-Weber (SWS) syndrome is associated with behavioral and academic problems in childhood, it is unknown whether those problems are concomitants of the disorder itself or of the seizure disorder that is common in SWS. We compared two groups of children with SWS-- one with seizures (n=20) and one without seizures (n=14)--on parent-report and teacher-report measures of behavioral and academic functioning. The two subgroups were compared with each other as well as with children with epilepsy alone (n=29) and a group of healthy controls (n=21). The SWS group with seizures was more impaired than the...
Source: Epilepsy and Behaviour - September 20, 2012 Category: Neurology Authors: Raches D, Hiscock M, Chapieski L Tags: Epilepsy Behav Source Type: research

Pediatric functional hemispherectomy: outcome in 92 patients
Conclusion Hemispherotomies/functional hemispherectomies are very effective and safe procedures for treating drug-resistant epilepsy with extensive unihemispheric pathology. Etiology and surgery type clearly influence seizure outcome. Content Type Journal ArticleCategory Clinical ArticlePages 1-12DOI 10.1007/s00701-012-1481-3Authors J. Schramm, Department of Neurosurgery, Bonn University Medical Center, University of Bonn, Sigmund-Freud-Str. 25, 53105 Bonn, GermanyS. Kuczaty, Department of Epileptology, Bonn University Medical Center, University of Bonn, Bonn, GermanyR. Sassen, Department of Epilepto...
Source: Acta Neurochirurgica - August 31, 2012 Category: Neurology Tags: Acta Neurochirurgica Source Type: research

Response
We appreciate the interest shown by Azar and Robert in our article and in the suggestion that Shapiro-Shulman syndrome should not be considered a different entity from Sturge-Weber syndrome. (Source: Pediatric Neurology)
Source: Pediatric Neurology - August 14, 2012 Category: Neurology Authors: José M. Prats Viñas Tags: Correspondence Source Type: research

Shapiro-Shulman and Sturge-Weber Syndromes
In 1976, Shapiro and Shulman described a condition consisting of bilateral facial nevi involving the lower face and upper cervical areas, macrocrania, cephalic venous hypertension, and anomalous intracranial venous return . We read with great interest the report by Prats Viñas et al. , who highlighted a controversial issue concerning the nature of this syndrome: is it a variant of Sturge-Weber syndrome, or a discrete entity? Based on clinical and magnetic resonance findings in one of their patients, the authors defend the second opinion. (Source: Pediatric Neurology)
Source: Pediatric Neurology - August 14, 2012 Category: Neurology Authors: Georges G. Azar, Matthieu P. Robert Tags: Correspondence Source Type: research

Teaching NeuroImages: Hemispheric enhancement in Sturge-Weber syndrome
(Source: Neurology)
Source: Neurology - August 13, 2012 Category: Neurology Authors: Ho, B.-L., Lan, S.-H., Hsu, C.-Y. Tags: All Imaging, All Clinical Neurology, All Cerebrovascular disease/Stroke, All Epilepsy/Seizures, Complex partial seizures RESIDENT AND FELLOW SECTION Source Type: research

[Sturge-Weber syndrome and dilated cardiomyopathy: coincidence or associated disease?]
PMID: 22877906 [PubMed - as supplied by publisher] (Source: The Anatolian Journal of Cardiology)
Source: The Anatolian Journal of Cardiology - August 8, 2012 Category: Cardiology Authors: Erdoğan HI, Gül EE, Yıldırım O, Düzenli MA Tags: Anadolu Kardiyol Derg Source Type: research

Vascular tumours of the retina and choroid : classification, diagnosis and treatment
Conclusion Controversy exists as to the optimal management of these benign but potentially blinding tumors. This review therefore serves as an introduction to the different topics of this symposium as well as the debate at the end with different experts sharing their experience. (Source: Acta Ophthalmologica)
Source: Acta Ophthalmologica - August 6, 2012 Category: Opthalmology Authors: A SCHALENBOURG Tags: 3461 Source Type: research

Visual acuity outcomes in pediatric glaucomas
Purpose: To evaluate and compare the visual acuity prognosis in the various pediatric glaucoma subtypes and to determine risk factors for vision loss.Methods: The medical records of pediatric glaucoma patients from 2000 to 2010 at Children's Hospital of Philadelphia were retrospectively reviewed. Visual acuities, surgeries, glaucoma subtype, and etiology of vision impairment were recorded. Univariate and multivariate analyses were performed to determine the risk factors for visual impairment.Results: A total of 133 eyes (36.8% primary congenital glaucoma, 28.6% aphakic glaucoma, 12.0% glaucoma associated with anterior segm...
Source: Journal of AAPOS - August 1, 2012 Category: Opthalmology Authors: Monica R. Khitri, Monte D. Mills, Gui-Shuang Ying, Stefanie L. Davidson, Graham E. Quinn Tags: Major Articles Source Type: research

Sturge-Weber Syndrome
(Source: Neurology)
Source: Neurology - July 23, 2012 Category: Neurology Authors: Franz, D. N. Tags: Mitochondrial disorders; see Genetics/Mitochondrial disorders, Gene expression studies, Mitochondrial disorders BOOK REVIEW Source Type: research

Clinical features of Sturge-Weber syndrome without facial nevus: Five novel cases.
This study confirmed that SWS type III should be considered in any child or young adult presenting with seizures or complicated migraine and intracranial unilateral calcification. The diagnosis must be confirmed with contrast-enhanced MRI images of the brain. Surgical therapy should be considered in patients with drug-resistant and persistent epileptic seizures. PMID: 22819211 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - July 17, 2012 Category: Neurology Authors: Siri L, Giordano L, Accorsi P, Cossu M, Pinelli L, Tassi L, Striano P Tags: Eur J Paediatr Neurol Source Type: research

[Sturge-Weber syndrome -clinical and neuroimaging variability.]
Abstract Sturge Weber Syndrome is a rare neurocutaneous syndrome in which the severity is determined by degree of brain involvement and control of epilepsy. The authors describe and analyse clinical and imaging features of this syndrome, through a retrospective study of 13 patients (8 girls; aged between 15 days and 9 years at first visit). Twelve had facial angioma and one had atrichia corresponding to the area of brain involvement. Epilepsy was diagnosed in 6 cases, hemiplegia in 4, psychomotor delay in 7, and glaucoma in 4. Cerebral abnormalities were found in 10 children, 3 without neurological symptoms. The cl...
Source: Anales de Pediatria - June 26, 2012 Category: Pediatrics Authors: Rios M, Barbot C, Pinto PS, Salício L, Santos M, Carrilho I, Temudo T Tags: An Pediatr (Barc) Source Type: research

Cognitive and mood profile of Sturge-Weber Syndrome affecting the thalamus.
PMID: 22666901 [PubMed - in process] (Source: The Canadian Journal of Neurological Sciences)
Source: The Canadian Journal of Neurological Sciences - May 1, 2012 Category: Neurology Authors: Kapadia AN, Naik NP, Macdonald R, Schweizer TA Tags: Can J Neurol Sci Source Type: research

[Neuroimaging in pediatric epilepsy.]
Abstract The main causes of epilepsy in children are cortical malformations (hemimegalencephaly, cortical dysplasia, lissencephaly, etc.) and phakomatosis (tuberous sclerosis, Sturge-Weber disease, neurofibromatosis type 1, etc.), perinatal ischemia, traumatisms, infections, mesial temporal sclerosis, metabolic diseases, and tumors. Imaging indications are precise, including partial seizures and a pathological electroencephalogram. Twenty-five percent of these epilepsy cases are pharmacoresistant. Indeed, MRI is essential to consider surgical treatment, allowing one to localize potential epileptogenic anatomic lesi...
Source: Archives de Pediatrie - April 3, 2012 Category: Pediatrics Authors: Trichard M, Léautaud A, Bednarek N, Mac-Caby G, Cardini-Poirier S, Motte J, Hoeffel C Tags: Arch Pediatr Source Type: research

Presumed Sturge Weber Syndrome in a Haitian Boy: A Case of Delayed Diagnosis
Conclusion. SWS presents with hamartomatous malformations and venous dilation affecting the skin, central nervous system and eye. The ocular involvement may vary, with the most common complications being glaucoma, buphthalmos and diffuse choroidal hemangiomas. This case report helps remind physicians of the importance of a thorough clinical examination, and highlights the ophthalmologists’ responsibility of examining beyond the eye. (Source: Interdisciplinary Perspectives on Infectious Diseases)
Source: Interdisciplinary Perspectives on Infectious Diseases - March 27, 2012 Category: Infectious Diseases Source Type: research

Sturge-Weber syndrome with bilateral facial nevus and early cerebral calcification
We report one such variant in a 14 months old child with bilateral facial nevus and bilateral curvilinear calcification. There was also global development delay and early onset of seizures reflecting the severe bilateral cortical changes. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - February 13, 2012 Category: Neuroscience Authors: Syed Ahmed ZakiVijay Lad Source Type: research

Outcomes of Disconnective Surgery in Intractable Pediatric Hemispheric and Subhemispheric Epilepsy
Conclusions: There is an excellent seizure outcome following disconnective epilepsy surgery for intractable hemispheric and subhemispheric pediatric epilepsy. An older age of seizure onset, RE, SWS and PES were good predictors of a Class I seizure outcome. (Source: Diagnostic and Therapeutic Endoscopy)
Source: Diagnostic and Therapeutic Endoscopy - February 9, 2012 Category: Surgery Source Type: research

Psychological and Social Factors in Undergoing Reconstructive Surgery Among Individuals with Craniofacial Conditions: An Exploratory Study.
Conclusions: The range of participant attitudes and experiences reflect the complexity of reconstructive surgery. Pediatric health care teams involved in the care of children with CFCs play an important role in advising patients (and their parents) about existing treatment options. The psychological and social implications of reconstructive surgery should be relayed to help families weigh the risks and benefits of surgery in an informed and meaningful way. Keywords: reconstructive surgery, craniofacial conditions, pediatrics, decision-making, psychological and social implications, parental role. PMID: 22315960 [PubMed...
Source: The Cleft Palate-Craniofacial Journal - February 8, 2012 Category: ENT & OMF Authors: Bemmels H, Biesecker B, Loewenstein J, Krokosky A, Guidotti R, Sutton EJ Tags: Cleft Palate Craniofac J Source Type: research

The role of episcleral venous pressure in glaucoma associated with Sturge-Weber syndrome
Conclusions: Our data support the hypothesis that elevated EVP plays an important role in eyes with SWS glaucoma. (Source: Journal of AAPOS)
Source: Journal of AAPOS - February 1, 2012 Category: Opthalmology Authors: Tiffany Shiau, Narendra Armogan, David B. Yan, Hugh G. Thomson, Alex V. Levin Tags: Major Articles Source Type: research

Overlap of Sturge-Weber syndrome and Klippel-Trenaunay syndrome
Radheshyam Purkait, Tryambak Samanta, Tapankumar Sinhamahapatra, Mridula ChatterjeeIndian Journal of Dermatology 2011 56(6):755-757Sturge-Weber syndrome is a rare sporadic condition of mesodermal phakomatosis, characterized by purple-colored flat cutaneous cranial (face) hemangiomas (most commonly along the trigeminal nerve), glaucoma and vascular lesions in the ipsilateral brain and meninges. Klippel-Trenaunay syndrome is also an uncommon mesodermal phakomatosis characterized by a triad of cutaneous and visceral hemangiomas, venous varicosities and soft tissue or bone hypertrophy. Sturge-Weber syndrome in combination with...
Source: Indian Journal of Dermatology - January 14, 2012 Category: Dermatology Authors: Radheshyam PurkaitTryambak SamantaTapankumar SinhamahapatraMridula Chatterjee Source Type: research

Sturge Weber Syndrome with Concomitant Infantile Vein of Galen Aneurysmal Malformation: Role of Multi-modality Imaging in Diagnosis
Discussion: This experience underscores the value of imaging in revealing this complex angio-architecture, which is necessary in the diagnosis and management. (Source: EJVES Extra)
Source: EJVES Extra - January 13, 2012 Category: Surgery Authors: A. Ismail, S.K. Idris, A.M. Tabari, H. Ismail, S. Ali, M. Usman Source Type: research

Sturge Weber Syndrome with Concomitant Infantile Vein of Galen Aneurysmal Malformation: Role of Multi-modality Imaging in Diagnosis
Introduction: Sturge Weber syndrome is a neurocutaneous disorder, characterised by vascular malformation with capillary venous angiomas. Though it presents with vascular anomalies, association with vein of Galen aneurysmal malformation is rare. (Source: European Journal of Vascular and Endovascular Surgery)
Source: European Journal of Vascular and Endovascular Surgery - January 11, 2012 Category: Surgery Authors: A. Ismail, S.K. Idris, A.M. Tabari, H. Ismail, S. Ali, M. Usman Tags: EJVES Extra Abstracts Source Type: research

Museum of TMH Multimodality Imaging Center. Congenital aplasia of the left iliac vein in a patient with concomittant Sturge-Weber syndrome and May-Thurner syndrome with congenital aberrant left femoral to right greater saphenous vein bypass.
PMID: 22891112 [PubMed - indexed for MEDLINE] (Source: Methodist DeBakey Cardiovascular Journal)
Source: Methodist DeBakey Cardiovascular Journal - January 1, 2012 Category: Cardiology Authors: Cheema ZF, Lumsden AB Tags: Methodist Debakey Cardiovasc J Source Type: research

Museum of TMH Multimodality Imaging Center: Congenital aplasia of the left iliac vein in a patient with concomittant sturge-weber syndrome and may-thurner syndrome with congenital aberrant left femoral to right greater saphenous vein bypass.
PMID: 22891112 [PubMed - in process] (Source: Methodist DeBakey Cardiovascular Journal)
Source: Methodist DeBakey Cardiovascular Journal - January 1, 2012 Category: Cardiology Authors: Cheema ZF, Lumsden AB Tags: Methodist Debakey Cardiovasc J Source Type: research

Cerebral hemispherectomy: Sensory scores before and after intensive mobility training
Conclusion: Light touch was less affected than proprioception on the paretic side after cerebral hemispherectomy. Improvements with mobility training correlated with older age at seizure onset and etiology. These findings suggest that many years after epilepsy surgery sensory functions are not static supporting the notion of existing developmental neuroplasticity of the remaining cerebral cortex along with brain stem and spinal cord pathways. (Source: Brain and Development)
Source: Brain and Development - December 5, 2011 Category: Neurology Authors: Stella de Bode, Stacy Fritz, Gary W. Mathern Tags: Original articles Source Type: research

A perfusion-metabolic mismatch in Sturge-Weber syndrome: A multimodality imaging study
Conclusions: Regional perfusion and cortical metabolic abnormalities can extend beyond lobes affected by leptomeningeal vascular malformations and are related to epilepsy in SWS. Despite a general correlation between perfusion and metabolism, increased WM perfusion with preserved cortical metabolism in overlying cortex is a common pattern of a perfusion/metabolic mismatch. This may represent a disease stage where cortical function is preserved while increased WM perfusion provides collateral drainage of cortex via the deep vein system. (Source: Brain and Development)
Source: Brain and Development - November 10, 2011 Category: Neurology Authors: Bálint Alkonyi, Yanwei Miao, Jianlin Wu, Zhaocheng Cai, Jiani Hu, Harry T. Chugani, Csaba Juhász Tags: Original articles Source Type: research

[Clinical Picture] Sturge-Weber angiomatosis
A 20-year-old woman presented with a 1-month history of swollen gums. Her medical history included seizures for the past 19 years and a macular patch on the right side of her face since birth. She was taking phenytoin for her seizures. Intraoral examination showed extension of the macular patch on the right side of the oral cavity and generalised gingival enlargement. On the basis of her history and clinical presentation she was diagnosed with Sturge-Weber angiomatosis and drug-induced gingival enlargement. (Source: LANCET)
Source: LANCET - October 29, 2011 Category: Journals (General) Authors: Atul P Sattur, Megha Goyal Tags: Clinical Picture Source Type: research

Sturge-Weber syndrome with an unusual onset in the sixth decade: a case report
Content Type Journal ArticleCategory Letter to the EditorPages 1-2DOI 10.1007/s10072-011-0822-yAuthors L. Ferrari, Department of Neurology, Scientific Institute and University Hospital San Raffaele, 48, Via Olgettina, 20132 Milan, ItalyE. Coppi, Department of Neurology, Scientific Institute and University Hospital San Raffaele, 48, Via Olgettina, 20132 Milan, ItalyF. Caso, Department of Neurology, Scientific Institute and University Hospital San Raffaele, 48, Via Olgettina, 20132 Milan, ItalyR. Santangelo, Department of Neurology, Scientific Institute and University Hospital San Raffaele, 48, Via Olgettina, 20132 Milan...
Source: Neurological Sciences - October 21, 2011 Category: Neurology Tags: Neurological Sciences Source Type: research

Sturge Weber syndrome. Case report
Sturge Weber syndrome or encephalotrigeminal angiomatosis is a sporadic neurocutaneous disease characterized by port wine stain color due to a vascular malformation that follows the route of the cranial nerve V (trigeminal) affecting primarily the V1 and V2 branches, in other characteristics that they can present we have the glaucoma, intracranial calcifications and seizure. Its pathogenesis is not yet clarified, is attributed to a genetic component. (Source: International Journal of Oral and Maxillofacial Surgery)
Source: International Journal of Oral and Maxillofacial Surgery - October 1, 2011 Category: ENT & OMF Authors: C.D.L.Á. Pernia, J.G. Ravelo, H. Vélez, M. Cachazo, J. Dopazo, O. Reyes, E. De Armas, A. Flete Tags: Posters Source Type: research

Ruthenium-106 Plaque Therapy for Diffuse Choroidal Hemangioma in Sturge-Weber Syndrome
We present our observations on two cases of diffuse choroidal hemangiomas with exudative retinal detachment associated with SWS treated with Ruthenium-106 plaque therapy. Outcomes included best-corrected visual acuity (BCVA) and regression in tumor thickness measured by ultrasonography. The initial BCVA of the affected eyes was counting fingers at 1 meter and light projection. Pretreatment tumors thickness was 3.5 mm and 4.7 mm. In a follow-up period of 18–24 months, significant reduction in thickness of choroidal hemangiomas up to 1.2 mm and 1.4 mm with prompt resolution of exudative reti...
Source: Interdisciplinary Perspectives on Infectious Diseases - September 29, 2011 Category: Infectious Diseases Source Type: research

Neurocutaneous syndrome: A prospective study
Conclusion: As NCS is not an uncommon disease in children, it is always necessary to find out the subtle neurological signs, whenever we observe any case with cutaneous markers suggestive of NCS. In addition, it is a must to do a detailed dermatological examination in a child with central nervous system involvement, in the pediatric population. However, the neurological course cannot be predicted from skin lesions. (Source: Indian Journal of Dermatology)
Source: Indian Journal of Dermatology - September 10, 2011 Category: Dermatology Authors: Radheshyam PurkaitTryambak SamantaSachin ThakurSandipan Dhar Source Type: research

Sturge-Weber syndrome in an orthodontic patient
The aim of this article was to describe the Sturge-Weber syndrome in a patient with orthodontic requirements. Pathologies involved in this syndrome affect facial cranial growth. (Source: American Journal of Orthodontics and Dentofacial Orthopedics)
Source: American Journal of Orthodontics and Dentofacial Orthopedics - August 31, 2011 Category: Dentistry Authors: Matheus Melo Pithon, Ana Carolina Dias Viana de Andrade, Ana Paula Dias Viana de Andrade, Rogério Lacerda dos Santos Tags: Clinician's Corner Source Type: research

Brain damage and IQ in unilateral Sturge-Weber syndrome: Support for a "fresh start" hypothesis.
Abstract We tested the hypothesis that extent of severe hypometabolism measured by fluorodeoxyglucose PET has a U-shaped (nonlinear) relationship to IQ in children with unilateral Sturge-Weber syndrome. Thirty-five consecutive children (age range: 30-153months) with Sturge-Weber syndrome and unilateral brain involvement were enrolled in the study. Participants underwent cognitive assessment and interictal fluorodeoxyglucose PET scans. Regression analyses tested whether a quadratic model best accounted for the relationship between extent of severe cortical hypometabolism and IQ, controlling for seizure variables. A ...
Source: Epilepsy and Behaviour - August 15, 2011 Category: Neurology Authors: Behen ME, Juhász C, Wolfe-Christensen C, Guy W, Halverson S, Rothermel R, Janisse J, Chugani HT Tags: Epilepsy Behav Source Type: research

Clinical Correlates of White Matter Blood Flow Perfusion Changes in Sturge-Weber Syndrome: A Dynamic MR Perfusion-Weighted Imaging Study [PEDIATRICS]
CONCLUSIONS: Increased perfusion in the affected cerebral WM may indicate an early stage of SWS without severe brain atrophy. Decreased perfusion is associated with frequent seizures, long duration of epilepsy, and brain atrophy. (Source: American Journal of Neuroradiology)
Source: American Journal of Neuroradiology - August 11, 2011 Category: Radiology Authors: Miao, Y., Juhasz, C., Wu, J., Tarabishy, B., Lang, Z., Behen, M. E., Kou, Z., Ye, Y., Chugani, H. T., Hu, J. Tags: PEDIATRICS Source Type: research

Renal lymphangiomatosis, interrupted IVC with persistent primitive hepatic venous plexus and multiple anomalous venous channels: parts of an overlap syndrome?
Abstract A 5-year-old girl with cutis marmorata telangiectasia congenita (CMTC) and congenital glaucoma, who had previously presented with seizures, transient hemiplegia, upper gastrointestinal bleeding and hemihypertrophy, developed a large pleural effusion. Subsequent imaging revealed renal lymphangiomatosis, multiple anomalous intra-abdominal venous channels, an interrupted inferior vena cava with a persistent primitive hepatic venous plexus (PPHVP) and meningeal angiomas. To the best of our knowledge, the CT findings of PPHVP and the combination of the demonstrated abnormalities have not been previously ...
Source: Pediatric Radiology - July 19, 2011 Category: Radiology Tags: Pediatric Radiology Source Type: research

Clinical Correlates of White Matter Blood Flow Perfusion Changes in Sturge-Weber Syndrome: A Dynamic MR Perfusion-Weighted Imaging Study [PEDIATRICS]
CONCLUSIONS: Increased perfusion in the affected cerebral WM may indicate an early stage of SWS without severe brain atrophy. Decreased perfusion is associated with frequent seizures, long duration of epilepsy, and brain atrophy. (Source: American Journal of Neuroradiology)
Source: American Journal of Neuroradiology - June 29, 2011 Category: Radiology Authors: Miao, Y., Juhasz, C., Wu, J., Tarabishy, B., Lang, Z., Behen, M. E., Kou, Z., Ye, Y., Chugani, H. T., Hu, J. Tags: PEDIATRICS Source Type: research

Clinical Outcomes in Bilateral Sturge-Weber Syndrome
Approximately 15% of patients with Sturge-Weber syndrome demonstrate bilateral intracranial involvement, and the prognosis of these patients is considered particularly unfavorable. We reviewed the clinical and neuroimaging features of patients with Sturge-Weber syndrome and bilateral intracranial involvement. Seizure variables, the presence of hemiparesis, and the degree of developmental impairment at most recent follow-up were compared with imaging abnormalities. Of 110 Sturge-Weber syndrome patients, 14 demonstrated bilateral brain involvement, with an asymmetric pattern on glucose metabolism positron emission tomography...
Source: Pediatric Neurology - May 9, 2011 Category: Neurology Authors: Bálint Alkonyi, Harry T. Chugani, Samir Karia, Michael E. Behen, Csaba Juhász Tags: Original Articles Source Type: research

Angle closure glaucoma associated with ectopia lentis in a patient with Sturge-Weber syndrome
S D Reck & P P Chen (Source: Eye)
Source: Eye - May 6, 2011 Category: Opthalmology Authors: D B Moore Source Type: research