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.
CONCLUSION: Our results supported the potential of AATs using A1R agonist to be a novel therapy for reducing life burden from patients with refractory epilepsy in SWS, with application to epileptic generation region but not propagation region. PMID: 32208337 [PubMed - as supplied by publisher] (Source: Epilepsy and Behaviour)
Source: Epilepsy and Behaviour - March 21, 2020 Category: Neurology Authors: Wang X, Cao L, Guan Y, He Q, He X, Zhou J, Li T, Luan G Tags: Epilepsy Behav Source Type: research

Suicide Screening in Sturge-Weber Syndrome: An Important Issue in Need of Further Study
Sturge-Weber syndrome (SWS) is a neurocutaneous disorder associated with epilepsy, glaucoma, cognitive impairments, and a port-wine birthmark. Although individuals with SWS are vulnerable to known risk factors for suicide, including chronic illness and physical differences (port-wine birthmark), frequency of suicidal ideation and attempts in youth and adults with SWS is unknown. (Source: Pediatric Neurology)
Source: Pediatric Neurology - March 18, 2020 Category: Neurology Authors: Alison J. Sebold, Amelia S. Ahmed, Taylor C. Ryan, Bernard A. Cohen, Henry D. Jampel, Stacy J. Suskauer, T. Andrew Zabel, Anne M. Comi, Suzanne Rybczynski Tags: Research Paper Source Type: research

Toward a better understanding of stroke-like episodes in Sturge-Weber syndrome.
;sz C PMID: 32107105 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 14, 2020 Category: Neurology Authors: Juhász C Tags: Eur J Paediatr Neurol Source Type: research

Characteristic Cytokine Profiles of Aqueous Humor in Glaucoma Secondary to Sturge-Weber Syndrome
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 from patients with senile cataract as controls. Compared with the control group, levels of interleukin (IL)-12p40, macrophage inflammatory protein (MIP)-1d, tumor necrosis factor-alpha (TNF-a), IL-5, IL-7, interleukin-6 receptor (IL-6R), and B lymphocyte chemoattractant (BLC) in AH were ...
Source: Frontiers in Immunology - January 28, 2020 Category: Allergy & Immunology Source Type: research

Cerebrofacial venous metameric syndrome —spectrum of imaging findings
AbstractCerebrofacial 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 migration of the neural crest cells, and because of this, facial, osseous, and cerebral involvement typically follows a segmental or “metameric” distribution. The most commonly recognized form of CVMS is Sturge-Weber syndrome. However, a wide sp...
Source: Neuroradiology - January 14, 2020 Category: Radiology Source Type: research

Postpartum psychosis in Sturge-Weber syndrome: A case report.
Authors: Saraf AS, Babhulkar SS, Joge VP PMID: 31896875 [PubMed] (Source: Indian Journal of Psychiatry)
Source: Indian Journal of Psychiatry - January 5, 2020 Category: Psychiatry Tags: Indian J Psychiatry Source Type: research

Sturge-weber angiomatosis: a case report
Sturge-Weber angiomatosis is a rare nonhereditary developmental condition, characterized by hamartomatous vascular proliferation involving the tissues of the brain and face. Its diagnosis can be established by the identification of the following criteria: port-wine stains, leptomeningeal angiomas, skull imaging with presence of gyriform calcifications in "tram lines," and intraoral involvement resulting in hypervascular changes. The purpose of this study is to perform a case report of Sturge-Weber angiomatosis, attended at a stomatology service. (Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics)
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - December 15, 2019 Category: ENT & OMF Authors: MARINA FERNANDES BINIMELIZ, DANIEL FALHEIRO, BRUNO TURELI, RICART GIL MACEDO, LUCIENE SILVEIRA, CESAR W. NOCE Source Type: research

GNA11 mutation as a cause of Sturge Weber Syndrome - expansion of the phenotypic spectrum of G-protein related mosaicism and the associated clinical diagnoses
GNA11 and GNAQ are highly homologous genes encoding different G α subunits of the Gαq subfamily of heterotrimeric G-proteins. GNAQ mutation mosaicism has previously been found to cause Sturge-Weber syndrome (SWS) and isolated capillary malformations(Shirley et al., 2013). We recently described post-zygotic activating mutations in GNA11 or GNAQ as causes of Pha komatosis pigmentovascularis (PPV)(Thomas et al., 2016), a group of conditions defined by the presence of both pigmentary and vascular birthmarks(Happle, 2005, Ota, 1947), and GNAQ mosaicism as a cause of Extensive or atypical dermal melanocytosis (EDM)(T...
Source: Journal of Investigative Dermatology - December 12, 2019 Category: Dermatology Authors: Satyamaanasa Polubothu, Lara A-Olabi, Maria Carmen del Boente, Alisha Chacko, Georgios Eleftheriou, Mary Glover, David Jim énez-Gallo, Elizabeth A. Jones, Debra Lomas, Regina Fölster-Holst, Samira Syed, Monika Tasani, Anna Thomas, Martin Tisdall, Antoni Tags: Letters to the Editor Source Type: research

GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of G α/11Mosaicism and the Associated Clinical Diagnoses
GNA11 and GNAQ are highly homologous genes encoding different G α subunits of the Gαq subfamily of heterotrimeric G-proteins. GNAQ-mutation mosaicism has previously been found to cause Sturge-Weber syndrome (SWS) and isolated capillary malformations (Shirley et al., 2013). We recently described postzygotic activating mutations in GNA11 or GNAQ as causes of ph akomatosis pigmentovascularis (PPV) (Thomas et al., 2016), a group of conditions defined by the co-occurrence of pigmentary and vascular birthmarks (Happle, 2005; Ota et al., 1947), and GNAQ mosaicism as a cause of extensive or atypical derm...
Source: Journal of Investigative Dermatology - December 12, 2019 Category: Dermatology Authors: Satyamaanasa Polubothu, Lara Al-Olabi, Maria Carmen del Boente, Alisha Chacko, Georgios Eleftheriou, Mary Glover, David Jim énez-Gallo, Elizabeth A. Jones, Debra Lomas, Regina Fölster-Holst, Samira Syed, Monika Tasani, Anna Thomas, Martin Tisdall, Anton Tags: Letter to the Editor Source Type: research

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. (Source: The Journal of Pediatrics)
Source: The Journal of Pediatrics - October 3, 2019 Category: Pediatrics Authors: Soonweng Cho, Biswajit Maharathi, Karen L. Ball, Jeffrey A. Loeb, Jonathan Pevsner Tags: Original Articles Source Type: research

Unusual Cause of Facial Asymmetry: Sturge-Weber Syndrome
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. (Source: Journal of Craniofacial Surgery)
Source: Journal of Craniofacial Surgery - October 1, 2019 Category: Surgery Tags: Brief Clinical Studies Source Type: research

Unilateral Allergic Contact Dermatitis Due to Timolol in Eye Drops Used for Treating Glaucoma in a Patient With Sturge-Weber Syndrome and a Choroidal Hemangioma.
PMID: 31433382 [PubMed - as supplied by publisher] (Source: Dermatitis)
Source: Dermatitis - August 19, 2019 Category: Dermatology Authors: Koumaki D, Orton D Tags: Dermatitis Source Type: research

Atypical Intracerebral Developmental Venous Anomalies in Sturge-Weber Syndrome: A Case Series and Review of Literature
Intracranial vascular abnormalities in Surge-Weber syndrome (SWS), including leptomeningeal angiomatosis, anomalous cortical venous structures, and transmedullary developmental venous anomalies (DVAs), are well recognized. Prominent vascular flow voids on T2-weighted Magnetic Resonance Imaging (MRI) are occasionally identified in patients with SWS, raising concern of arteriovenous malformations (AVM), a congenital high-flow vascular malformation with a risk of bleeding. (Source: Pediatric Neurology)
Source: Pediatric Neurology - August 12, 2019 Category: Neurology Authors: Aimen S. Kasasbeh, Amit Kalaria, Anne M. Comi, Warren Lo, Doris D.M. Lin Tags: Short Communication Source Type: research

Prevention of epilepsy in humans - truth or myth? The experience from Sturge-Weber syndrome and Tuberous Sclerosis Complex.
We present the results of preventive antiepileptic treatment in children with Sturge-Weber syndrome and Tuberous Sclerosis Complex as examples of the possible prevention of epilepsy and epilepsy-associated cognitive impairment in children. PMID: 31166003 [PubMed - indexed for MEDLINE] (Source: Neurologia i Neurochirurgia Polska)
Source: Neurologia i Neurochirurgia Polska - July 11, 2019 Category: Neurology Authors: Słowińska M, Golec W, Jóźwiak S Tags: Neurol Neurochir Pol Source Type: research

Aberrant myelination in patients with Sturge-Weber syndrome analyzed using synthetic quantitative magnetic resonance imaging
AbstractPurposeAccelerated myelination in the affected hemisphere has been demonstrated previously in patients with Sturge-Weber syndrome (SWS). This prospective study investigated myelin-related changes in patients with unilateral SWS using synthetic quantitative magnetic resonance imaging (qMRI).MethodsFourteen children with unilateral SWS were categorized according to age, i.e., ≤ 2 years (group A,n = 5, mean age 1.1 years, 3 males) and>  2 years (group B,n = 9, mean age 3.9 years, 4 males). All children underwent two-dimensional synthetic qMRI. The mye...
Source: Neuroradiology - July 6, 2019 Category: Radiology Source Type: research

Retinal vascular abnormalities in Sturge-Weber syndrome
We report two cases with rare concomitant retinal vascular abnormalities along with SWS. Both the patients had nevus flammeus, hemifacial hypertrophy, and choroidal hemangioma. In one case, retinal cavernous hemangioma was seen in the affected eye. The other case revealed retinal neovascularization secondary to proliferative diabetic retinopathy in the eye with choroidal hemangioma. (Source: Indian Journal of Ophthalmology)
Source: Indian Journal of Ophthalmology - June 25, 2019 Category: Opthalmology Authors: Dhanashree Ratra Hitesh Yadav Daleena Dalan Preet Kanwar Singh Sodhi Vineet Ratra Source Type: research

Neurologic Complications of Sturge-Weber Syndrome: Current Status and Unmet Needs
To identify the current status and major unmet needs in the management of neurologic complications in Sturge-Weber syndrome (SWS). (Source: Pediatric Neurology)
Source: Pediatric Neurology - June 6, 2019 Category: Neurology Authors: Aimee F. Luat, Csaba Juh ász, Jeffrey A. Loeb, Harry T. Chugani, Stephen J. Falchek, Badal Jain, Carol Greene-Roethke, Catherine Amlie-Lefond, Karen L. Ball, Amy Davis, Anna Pinto Tags: Original Articles Source Type: research

Neurological Complications of Sturge-Weber Syndrome: Current Status and Unmet Needs
We aimed to identify the current status and major unmet needs in the management of neurological complications in Sturge-Weber syndrome. (Source: Pediatric Neurology)
Source: Pediatric Neurology - June 6, 2019 Category: Neurology Authors: Aimee F. Luat, Csaba Juh ász, Jeffrey A. Loeb, Harry T. Chugani, Stephen J. Falchek, Badal Jain, Carol Greene-Roethke, Catherine Amlie-Lefond, Karen L. Ball, Amy Davis, Anna Pinto Tags: Original Article Source Type: research

Prevention of epilepsy in humans - mirage or possibility? The experience from Sturge-Weber syndrome and Tuberous Sclerosis Complex.
We present the results of preventive antiepileptic treatment in children with Sturge-Weber syndrome and Tuberous Sclerosis Complex as examples of the possible prevention of epilepsy and epilepsy-associated cognitive impairment in children. PMID: 31166003 [PubMed - as supplied by publisher] (Source: Neurologia i Neurochirurgia Polska)
Source: Neurologia i Neurochirurgia Polska - June 5, 2019 Category: Neurology Authors: Słowińska M, Golec W, Jóźwiak S Tags: Neurol Neurochir Pol Source Type: research

Restrictive cerebral cortical venopathy: A new clinicopathological entity.
We present a case of a novel restrictive cerebral venopathy in a child, consisting of a bilateral network of small to medium cortical veins without evidence of arteriovenous shunting, absence of the deep venous system, venous ischemia, elevated intracranial pressure, and intracranial calcifications. The condition is unlike other diseases characterized by networks of small veins, including cerebral proliferative angiopathy, Sturge-Weber syndrome, or developmental venous anomaly. While this case may be the result of an anatomic variation leading to the congenital absence of or early occlusion of the deep venous system, the i...
Source: Interventional Neuroradiology - May 30, 2019 Category: Radiology Tags: Interv Neuroradiol Source Type: research

The Role of Eye Plaque Brachytherapy and MR imaging in the Management of Diffuse Choroidal Hemangioma: An Illustrative Case Report and Literature Review
We report a case where magnetic resonance imaging (MRI) was used to aid in radiation target delineation for radioactive eye plaque brachytherapy. A thin-slice orbital MRI enhanced with gadolinium contrast was performed to differentiate the enhanced tumor from the unenhanced subretinal fluid, allowing for hemangioma delineation. Our patient was treated with 35Gy to the tumor apex over four days via radioactive iodine eye plaque. Subretinal fluid in the macula improved within a month and the exudative retinal detachment resolved within six months. There was no recurrence of subretinal fluid at three years. Our case illustrat...
Source: Practical Radiation Oncology - May 23, 2019 Category: Cancer & Oncology Source Type: research

Seizure outcomes after hemispherectomy for drug resistant epilepsy in childhood and adolescence
ConclusionsThis study shows good long-term seizure outcomes after hemispherectomy. Seizure freedom has been achieved in the majority of the patients after 3 and 5 years. (Source: Interdisciplinary Neurosurgery)
Source: Interdisciplinary Neurosurgery - May 23, 2019 Category: Neurosurgery Source Type: research

[Syndromes with vascular skin anomalies].
CONCLUSION: A diagnostic difficulty lies in the fact that not all syndromes associated with capillary nevi have been elucidated at the molecular level. For this reason, the preliminary dimension of the present review should be borne in mind. On the other hand, dermatologists in practice now have the fascinating chance to stimulate further advances in this particular field of knowledge by asking experts in dermatology, pediatrics or medical genetics how to solve the problem of molecular syndrome recognition in a puzzling case. PMID: 31111168 [PubMed - as supplied by publisher] (Source: Der Hautarzt: Zeitschrif...
Source: Der Hautarzt: Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete - May 22, 2019 Category: Dermatology Tags: Hautarzt Source Type: research

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 (a... (Source: BMC Neurology)
Source: BMC Neurology - May 3, 2019 Category: Neurology Authors: Li Deng, Dongmei Wang, Ni Ruan and Ping Fu Tags: Case report Source Type: research

Complete Title: Quality of Life in Children with Sturge-Weber Syndrome
To assess utilization of the National Institutes of Health (NIH) Quality of Life in Neurological Disorders (Neuro-QoL) short forms in pediatric patients with Sturge-Weber syndrome (SWS), a rare, neurovascular disorder, which frequently results in seizures, brain atrophy, calcification, and a range of neurological impairments. (Source: Pediatric Neurology)
Source: Pediatric Neurology - April 24, 2019 Category: Neurology Authors: Kelly A. Harmon, Alyssa M. Day, Adrienne M. Hammill, Anna L. Pinto, Charles E. McCulloch, Anne M. Comi, Collaborators: National Institutes of Health Sponsor: Rare Disease Clinical Research Consortium (RDCRN) Brain and Vascular Malformation Consortium (BVM Tags: Research Paper Source Type: research

Quality of Life in Children With Sturge-Weber Syndrome
We assessed the utilization of the National Institutes of Health Quality of Life in Neurological Disorders (Neuro-QoL) in pediatric patients with Sturge-Weber syndrome, a rare neurovascular disorder which frequently results in seizures, brain atrophy, calcification, and a range of neurological impairments. (Source: Pediatric Neurology)
Source: Pediatric Neurology - April 24, 2019 Category: Neurology Authors: Kelly A. Harmon, Alyssa M. Day, Adrienne M. Hammill, Anna L. Pinto, Charles E. McCulloch, Anne M. Comi, National Institutes of Health Sponsor: Rare Disease Clinical Research Consortium (RDCRN) Brain and Vascular Malformation Consortium (BVMC) SWS Investig Tags: Research Paper Source Type: research

Neuro-imagerie des phacomatoses chez l’enfant
ConclusionLes phacomatoses, ou syndrome neuro-cutané, regroupent un large groupe d’affections d’origine génétique responsables de la formation des lésions hamartomateuses et/ou tumorales touchant principalement les structures d’origine ectodermique et se traduisant essentiellement par une atteinte cutanée et du système nerveux central. Les manifestations neurologiques représentent souvent un élément majeur du pronostic.Les maladies les plus fréquentes sont les neurofibromatoses de type 1 et 2, la sclérose tubéreuse de...
Source: Journal of Neuroradiology - March 28, 2019 Category: Radiology Source Type: research

Outcome after hemispherotomy in patients with intractable epilepsy: Comparison of techniques in the Italian experience.
The objective of the study was to evaluate clinical characteristics and outcome of hemispherotomy in children and adolescents with hemispheric refractory epilepsy in an Italian cohort of patients. METHODS: We retrospectively evaluated the clinical course and outcome of 92 patients with refractory epilepsy who underwent hemispherotomy in three Italian epilepsy centers between 2006 and 2016. Three different approaches for hemispherotomy were used: parasagittal, modified parasagittal, and lateral. RESULTS: Mean age at epilepsy onset was 1.8 ± 2.51 years, and mean duration of epilepsy prior to surgery wa...
Source: Epilepsy and Behaviour - February 16, 2019 Category: Neurology Authors: de Palma L, Pietrafusa N, Gozzo F, Barba C, Carfi-Pavia G, Cossu M, De Benedictis A, Genitori L, Giordano F, Russo GL, Marras CE, Pelliccia V, Rizzi S, Rossi-Espagnet C, Vigevano F, Guerrini R, Tassi L, Specchio N Tags: Epilepsy Behav Source Type: research

Episcleral hemangioma in Sturge Weber syndrome
A 12-year boy presented with decreased vision in the right eye. The uncorrected visual acuity was 6/12, which improved to 6/6 after myopic refractive correction. Examination revealed port-wine stain on the right side of the face and dilated episcleral blood vessels in the right eye suggestive of episcleral hemangioma (Figure 1A and B). Intraocular pressure was 26.0 and 14.0  mm Hg in the right and left eye respectively. There was a diffuse choroidal hemangioma, and the optic nerve head was cupped (cup-disc ratio 0.8), suggestive of glaucoma. The patient did not have any history of seizures, and MRI brain did not rev...
Source: QJM - February 2, 2019 Category: Internal Medicine Source Type: research

Association of Somatic GNAQ Mutation With Capillary Malformations in a Case of Choroidal Hemangioma
This case study investigates the presence of theGNAQ R183Q mutation in the choroidal vessels of a patient with Sturge-Weber syndrome. (Source: JAMA Ophthalmology)
Source: JAMA Ophthalmology - January 1, 2019 Category: Opthalmology Source Type: research

Sturge-Weber Syndrome Coexisting With Moyamoya Disease in the Fifth Decade: A Case Report and Literature Review
Sturge-Weber syndrome (SWS) is a sporadically occurring neurocutaneous syndrome characterized by port-wine stain over the face, ocular abnormalities (glaucoma and choroidal hemangioma), and leptomeningeal angiomas. It is usually diagnosed in infancy, but it may occasionally present in adulthood with seizures or stroke-like episodes. Here, we report a 46-year-old male patient, having SWS coexisting with moyamoya disease, attending our hospital due to sudden loss of consciousness. We also searched PubMed (from its earliest date to August 2014) for case reports mentioning that SWS presents in adulthood. We identified 31 patie...
Source: The Neurologist - December 27, 2018 Category: Neurology Tags: Case Report/Case Series Source Type: research

Physical and Family History Variables Associated with Neurologic and Cognitive Development in Sturge-Weber Syndrome
Sturge-Weber syndrome (SWS) is caused by a somatic mutation in GNAQ leading to capillary-venous malformations in the brain presenting with various neurologic, ophthalmic, and cognitive symptoms of variable severity. This clinical variability makes accurate prognosis difficult. We hypothesized that greater extent of physical factors (extent of skin, eye and brain involvement), presence of possible genetic factors (gender and family history) and age of seizure onset may be associated with greater symptom severity and need for surgery in patients with SWS. (Source: Pediatric Neurology)
Source: Pediatric Neurology - December 19, 2018 Category: Neurology Authors: Alyssa M. Day, Charles E. McCulloch, Adrienne M. Hammill, Csaba Juh ász, Warren D. Lo, Anna L. Pinto, Daniel K. Miles, Brian J. Fisher, Karen L. Ball, Angus A. Wilfong, Alex V. Levin, Avrey J. Thau, Anne M. Comi, Collaborators: National Institute of Heal Tags: Research Paper Source Type: research

Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome
Sturge-Weber syndrome (SWS) is caused by a somatic mutation in GNAQ leading to capillary venous malformations in the brain presenting with various neurological, ophthalmic, and cognitive symptoms of variable severity. This clinical variability makes accurate prognosis difficult. We hypothesized that the greater extent of physical factors (extent of skin, eye, and brain involvement), presence of possible genetic factors (gender and family history), and age of seizure onset may be associated with greater symptom severity and need for surgery in patients with SWS. (Source: Pediatric Neurology)
Source: Pediatric Neurology - December 19, 2018 Category: Neurology Authors: Alyssa M. Day, Charles E. McCulloch, Adrienne M. Hammill, Csaba Juh ász, Warren D. Lo, Anna L. Pinto, Daniel K. Miles, Brian J. Fisher, Karen L. Ball, Angus A. Wilfong, Alex V. Levin, Avrey J. Thau, Anne M. Comi, National Institute of Health Sponsor: Rar Tags: Research Paper Source Type: research

The Rare Neurocutaneous Disorders: Update on Clinical, Molecular, and Neuroimaging Features
Phakomatoses, also known as neurocutaneous disorders, comprise a vast number of entities that predominantly affect structures originated from the ectoderm such as the central nervous system and the skin, but also the mesoderm, particularly the vascular system. Extensive literature exists about the most common phakomatoses, namely neurofibromatosis, tuberous sclerosis, von Hippel-Lindau and Sturge-Weber syndrome. However, recent developments in the understanding of the molecular underpinnings of less common phakomatoses have sparked interest in these disorders. In this article, we review the clinical features, current patho...
Source: Topics in Magnetic Resonance Imaging - December 1, 2018 Category: Radiology Tags: Review Articles Source Type: research

Flunarizine for headache prophylaxis in children with Sturge-Weber syndrome
Children with Sturge-Weber syndrome (SWS) can experience severe headache with or without transient hemiparesis. Flunarizine, a calcium antagonist, has been used for migraine. The experience with Flunarizine for headache in a cohort of children at a national centre for SWS is reviewed, reporting its efficacy and adverse effect in this population. (Source: Pediatric Neurology)
Source: Pediatric Neurology - November 28, 2018 Category: Neurology Authors: F. Gallop, T. Fosi, P. Prabhakar, S.E. Aylett Tags: Research Paper Source Type: research

Hypothesis: Presymptomatic treatment of Sturge-Weber Syndrome With Aspirin and Antiepileptic Drugs May Delay Seizure Onset
Sturge-Weber Syndrome (SWS) is a neurocutaneous disorder caused by a somatic mosaic mutation in GNAQ.1 SWS brain involvement causes seizures, stroke-like episodes and/or neurological deficits such as hemiparesis and intellectual disability. Seventy-five percent of infants with SWS will develop seizures within the first year of life.2 Those with more severe epilepsy experience greater cognitive deficits and intellectual disability.3 There is ictal single-photon emission computed tomography evidence that, in SWS, the seizures themselves may contribute to the brain injury due to an abnormal hemodynamic response. (Source: Pediatric Neurology)
Source: Pediatric Neurology - November 24, 2018 Category: Neurology Authors: Alyssa M. Day, Adrienne M. Hammill, Csaba Juh ász, Anna L. Pinto, E. Steve Roach, Charles E. McCulloch, Anne M. Comi, National Institutes of Health Sponsor: Rare Diseases Clinical Research Network (RDCRN) Brain and Vascular Malformation Consortium (BVMC) Tags: Perspectives in Pediatric Neurology Source Type: research

An unusual case of acoria in Sturge-Weber syndrome.
We present an unusual case of Sturge-Weber syndrome whose main clinical manifestations were nevus flammeus, seizures, glaucoma, and acoria. To our knowledge, the combination of Sturge-Weber syndrome and acoria has not been previously reported. PMID: 30295080 [PubMed - as supplied by publisher] (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - October 7, 2018 Category: Opthalmology Authors: Rahhal-Ortuño M, Díaz-Llopis M, Alonso-Muñoz L, Rahhal MS Tags: Eur J Ophthalmol Source Type: research

Autism spectrum disorder, social communication difficulties, and developmental comorbidities in Sturge-Weber syndrome.
Abstract Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by the combination of a facial naevus flammeus and pial angioma, often associated with learning difficulties and/or epilepsy. Here, we report on the neuropsychological characteristics of a cohort of 92 children with SWS seen at a national referral center between 2002 and 2015. Almost a quarter (24%) had a diagnosis of autism spectrum disorder (ASD), with 45% overall having evidence of social communication difficulties (SCD). Autism spectrum disorder was more commonly seen in those individuals with bilateral angioma (p = 0.021). Sig...
Source: Epilepsy and Behaviour - September 6, 2018 Category: Neurology Authors: Gittins S, Steel D, Brunklaus A, Newsom-Davis I, Hawkins C, Aylett SE Tags: Epilepsy Behav Source Type: research

Failure of goniosurgery for glaucoma associated with Sturge-Weber syndrome
Publication date: August 2018Source: Journal of American Association for Pediatric Ophthalmology and Strabismus, Volume 22, Issue 4Author(s): Helen H. Yeung, David S. Walton (Source: Journal of American Association for Pediatric Ophthalmology and Strabismus)
Source: Journal of American Association for Pediatric Ophthalmology and Strabismus - September 4, 2018 Category: Opthalmology Source Type: research

Targeting nucleotide exchange to inhibit constitutively active G protein α subunits in cancer cells.
Targeting nucleotide exchange to inhibit constitutively active G protein α subunits in cancer cells. Sci Signal. 2018 Sep 04;11(546): Authors: Onken MD, Makepeace CM, Kaltenbronn KM, Kanai SM, Todd TD, Wang S, Broekelmann TJ, Rao PK, Cooper JA, Blumer KJ Abstract Constitutively active G protein α subunits cause cancer, cholera, Sturge-Weber syndrome, and other disorders. Therapeutic intervention by targeted inhibition of constitutively active Gα subunits in these disorders has yet to be achieved. We found that constitutively active Gαq in uveal melanoma (UM) cells was inhibited...
Source: Science Signaling - September 4, 2018 Category: Biomedical Science Authors: Onken MD, Makepeace CM, Kaltenbronn KM, Kanai SM, Todd TD, Wang S, Broekelmann TJ, Rao PK, Cooper JA, Blumer KJ Tags: Sci Signal Source Type: research

The Bone Does Not Predict the Brain in Sturge-Weber Syndrome [PEDIATRICS]
BACKGROUND AND PURPOSE: It has been hypothesized that skull marrow signal alteration may represent an early disease manifestation of Sturge-Weber syndrome before development of its intracranial manifestations. We alternatively hypothesized that intraosseous changes are associated with the overlying port-wine stain rather than the intracranial stigmata of Sturge-Weber syndrome and hence are not a predictor of brain involvement. MATERIALS AND METHODS: MR imaging of children presenting with port-wine stain and/or Sturge-Weber syndrome between 1998 and 2017 was evaluated by 2 pediatric neuroradiologists for marrow signal abno...
Source: American Journal of Neuroradiology - August 14, 2018 Category: Radiology Authors: Warne, R. R., Carney, O. M., Wang, G., Bhattacharya, D., Chong, W. K., Aylett, S. E., Mankad, K. Tags: PEDIATRICS Source Type: research

Genetic Evaluation of Common Neurocutaneous Syndromes
The neurocutaneous syndromes are a group of multisystem disorders that mainly affect the skin and central nervous system. Neurofibromatosis 1, Neurofibromatosis 2, Tuberous Sclerosis Complex and Sturge-Weber Syndrome are four major neurocutaneous disorders that arise from the neural crest tissue and mainly present in childhood. In this review, we aimed to discuss the clinical findings and genetic diagnosis, related genes/pathways and genotype-phenotype correlations of these neurocutaneous syndromes. (Source: Pediatric Neurology)
Source: Pediatric Neurology - August 10, 2018 Category: Neurology Authors: Semra G ürsoy, Derya Erçal Tags: Review Article Source Type: research

Sturge Weber syndrome: A rare clinical presentation with bilateral port wine stain and leptomenigeal angiomatosis
Introduction: Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome that has a heterogeneous spectrum of manifestations, characterized by facial port-wine stain (PWS) within the trigeminal nerve distribution, ipsilateral leptomeningeal angiomatosis, glaucoma, seizures, stroke-like episodes, hemiparesis, and mental retardation. The diagnosis is based on clinical presentation and cranial imaging features. Treatment is a challenge and multidisciplinary approach is required to control ophthalmic, neurologic and dermatologic manifestations. (Source: Journal of the American Academy of Dermatology)
Source: Journal of the American Academy of Dermatology - August 2, 2018 Category: Dermatology Source Type: research

Failure of goniosurgery for glaucoma associated with Sturge-Weber syndrome
To report the surgical results of goniosurgery (goniotomy or trabeculotomy) for patients with Sturge-Weber syndrome (SWS) associated glaucoma. (Source: Journal of AAPOS)
Source: Journal of AAPOS - August 1, 2018 Category: Opthalmology Authors: Helen H. Yeung, David S. Walton Tags: Poster Source Type: research

Surgical outcomes of glaucoma drainage device implantation for refractory Sturge Weber –associated childhood glaucoma
Refractory Sturge Weber-associated glaucoma (SWG) in children presents management challenges; glaucoma drainage device (GDD) implantation has met with variable success. (Source: Journal of AAPOS)
Source: Journal of AAPOS - August 1, 2018 Category: Opthalmology Authors: Landon C. Meekins, Sonali Talsania, Sharon F. Freedman Tags: Poster Source Type: research

Clinical Outcome of Nonfistulous Cerebral Varices: the Analysis of 39 Lesions.
Conclusion: Nonfistulous CVs seemed to be asymptomatic in most cases and remained clinically silent. Hence, we suggest conservative management. PMID: 29991108 [PubMed] (Source: Journal of Korean Neurosurgical Society)
Source: Journal of Korean Neurosurgical Society - July 13, 2018 Category: Neurosurgery Tags: J Korean Neurosurg Soc Source Type: research

Three-dimensional Photogrammetric Analysis of Facial Soft-to-Hard Tissue Ratios After Bimaxillary Surgery in Facial Asymmetry Patients With and Without Sturge-Weber Syndrome
Sturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome characterized by facial port-wine stains. Most patients with facial asymmetry due to SWS have soft and/or hard tissue hypertrophy and require both soft tissue correction and bone surgery. In our experience, because SWS patients are more likely than non-SWS patients to be dissatisfied after bone surgery because of limited soft tissue change, we compared soft tissue changes after bimaxillary surgery between facial asymmetry patients with and without SWS. All patients—5 with SWS and 5 without SWS—underwent bimaxillary surgery by a single surgeon. Soft-...
Source: Annals of Plastic Surgery - July 12, 2018 Category: Cosmetic Surgery Tags: Head and Neck Surgery Source Type: research

Combined cilioretinal artery and hemi-retinal vein occlusion in Sturge Weber syndrome: Expanding the clinical spectrum
Publication date: Available online 5 August 2017Source: Saudi Journal of OphthalmologyAuthor(s): Sawsan S. Bakri, Deema Jomar, Sulaiman M. Alsulaiman, Marwan A. AbouammohAbstractA 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 pressure, gradual improvement of vision was noticed with simultaneous dis...
Source: Saudi Journal of Ophthalmology - July 11, 2018 Category: Opthalmology Source Type: research

Episcleral Plaque Brachytherapy for Diffuse Choroidal Hemangioma: Case Report, the Utility of MRI, and Review of the Literature
Diffuse choroidal hemangioma is a rare, benign vascular eye tumor that typically presents as part of Sturge-Weber syndrome. The tumor is clinically ill-defined with indistinct margins and blends subtly with the choroid. Associated exudative retinal detachment is a common complication that is reversible with management. External beam radiation therapy has traditionally been used for the treatment of diffuse choroidal hemangioma. There have been limited reports on the use of radioactive eye plaque brachytherapy. (Source: Brachytherapy)
Source: Brachytherapy - June 23, 2018 Category: Cancer & Oncology Authors: Gary D. Lewis, Helen Li, Sarah Scarboro, Bin S. Teh Source Type: research