A Síndrome de Sturge-Weber (SSW) é uma condição rara, presente desde o nascimento, que afeta o cérebro e a pele. É caracterizada por manchas avermelhadas no rosto (marcas de nascença) e/ou por vasos sanguíneos anormais no cérebro e nos olhos, que ficam no mesmo lado do corpo. Essas características resultam em problemas nos olhos e neurológicos com intensidade variável.
Introdução
O que você precisa saber de cara
A Síndrome de Sturge-Weber (SSW) é uma condição rara, presente desde o nascimento, que afeta o cérebro e a pele. É caracterizada por manchas avermelhadas no rosto (marcas de nascença) e/ou por vasos sanguíneos anormais no cérebro e nos olhos, que ficam no mesmo lado do corpo. Essas características resultam em problemas nos olhos e neurológicos com intensidade variável.
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Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 21 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 54 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Not applicable.
Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:34556863, PubMed:35672283, PubMed:37991948). The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state (PubMed:37991948). Signaling by an activated GPCR promotes GDP release and GTP binding (PubMed:37991948). The alpha subunit has a low GTPase activity
Cell membraneGolgi apparatusNucleusNucleus membrane
Capillary malformations, congenital
A form of vascular malformations that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas, which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity.
Medicamentos e terapias
Mecanismo: Cannabinoid CB1 receptor negative allosteric modulator
Mecanismo: FK506-binding protein 1A inhibitor
Mecanismo: FK506-binding protein 1A inhibitor
Mecanismo: Beta-1 adrenergic receptor antagonist
Variantes genéticas (ClinVar)
51 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 4 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
11 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Sturge-Weber
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
29 ensaios clínicos encontrados, 3 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 651
Unusual association: Sturge-Weber syndrome with Klippel-Trenaunay syndrome.
Sturge-Weber syndrome (SWS) and Klippel-Trenaunay syndrome (KTS) are rare vascular malformation disorders characterised by distinct clinical features but overlapping pathogenic mechanisms, involving somatic mosaic mutations and dysregulation of the mTOR pathway. SWS typically presents with facial port-wine stains, leptomeningeal angiomas and glaucoma, while KTS is characterised by limb hypertrophy, varicosities and venous malformations without central nervous system involvement. We report an unusual case of a middle childhood boy with features of both syndromes, including extensive facial and truncal port-wine stains, seizures, glaucoma, limb hypertrophy and venous anomalies. Imaging and clinical findings confirmed the coexistence of SWS and KTS phenotypes, highlighting the diagnostic complexity of overlap syndromes. Exome sequencing did not reveal any pathogenic variants. Multidisciplinary management, including seizure control, glaucoma care, vascular interventions and psychosocial support, remains crucial. Recognition of such overlap syndromes broadens understanding of their pathogenesis and opens avenues for targeted therapies such as mTOR inhibitors.
Digital Subtraction Angiographic Signature of Sturge-Weber Syndrome.
Retrospective study of photodynamic therapy for the GNA-Related Capillary Malformation spectrum of pediatric patients.
Vascular malformations caused by GNAQ/GNA11 somatic mutations are related to capillary malformations (CM), which include port-wine stains (PWS), and also include capillary malformation-related syndromes, such as Sturge-Weber syndrome (SWS), capillary malformation with overgrowth (CMO), diffuse capillary malformation with overgrowth (DCMO), and phakomatosis pigmentovascularis (PPV). These disorders are known as the GNA-Related Capillary malformation spectrum (GNARCMs). This spectrum presents a therapeutic challenge. This study aimed to evaluate the efficacy and safety of photodynamic therapy (PDT) for treating the GNARCMs of pediatric patients. The clinical manifestations of the pediatric GNARCMs patients were retrospectively analyzed, and the treatment data were assessed after undergoing PDT mediated with a combination of Hemoporfin and 532-nm light. For evaluation of improvement, photographs taken before and after photodynamic therapy were evaluated by three independent assessors blindly. Patient satisfaction was also used as a factor in the efficacy evaluation. Adverse events were recorded after treatment. We identified 25 pediatric patients in the study, including 11 patients of SWS, 8 patients of PPV, 5 patients of CMO, and 1 patient of DCMO. After an average of 1.64 sessions of PDT, based on the overall visual assessment, 72% of patients responded to treatment (with >25% color blanching), 48% of patients showed excellent or good levels of improvement (with >50% color blanching). Most adverse events were transient and self-limiting, except one patient of SWS, on the third day after PDT, the visual acuity of the eye on the non-treated side suddenly decreased, and the patient was diagnosed with retinal detachment, which was considered to be related to primary glaucoma rather than PDT. Focusing on the various clinical manifestations of the GNARCMs, after except contraindications, PDT can be selected for treatment of pediatric patients, and its effectiveness and safety are worthy of affirmation.
Perioperative Challenges in a Patient With Sturge-Weber and Obesity Hypoventilation Syndromes.
The rare concurrence of Sturge-Weber syndrome (SWS) and obesity hypoventilation syndrome (OHS) presents significant anesthetic challenges, with complexity in airway management and perioperative respiratory care. A 55-year-old man with SWS and OHS underwent elective dental extraction. He was advised to undergo continuous positive airway pressure (CPAP) therapy (10 cmH2O) preoperatively. Premedication included intramuscular clonidine (2 μg/kg). Awake fiberoptic intubation was performed under high-flow nasal oxygen (HFNO) support. Anesthesia was maintained with propofol and remifentanil via target-controlled infusion. In the PACU, CPAP intolerance led to desaturation (SpO2 80%), which was rapidly corrected with HFNO (50-70 L/min, FiO2 60%-80%), restoring SpO2 > 94% within 3 min. The patient was discharged after 24 h of uneventful monitoring. Awake fiberoptic intubation and the use of HFNO under strict ventilatory monitoring, as a rescue or bridging strategy, can facilitate safe anesthetic management in high-risk patients with SWS and OHS who are CPAP-intolerant. This case highlights the importance of multidisciplinary planning and individualized respiratory support strategies.
Modulation of EEG Background Rhythms in Sturge-Weber Syndrome: Impact of Surgical Timing on the Unaffected Hemisphere.
Epilepsy surgery improves seizure outcomes in Sturge-Weber syndrome (SWS), yet the electrophysiological patterns of postoperative recovery remain poorly characterized. Previous studies suggest that early intervention may yield distinct clinical trajectories, but the associated changes in EEG background activity have not been systematically investigated. To investigate whether age of surgery influences the postoperative modulation of EEG background rhythms in children with unilateral SWS, and to evaluate the utility of preoperative EEG asymmetry for lateralizing the epileptogenic hemisphere. Retrospective cohort study. We analyzed children with unilateral SWS who underwent epilepsy surgery, stratified by age at intervention (<2 vs. ≥2 years). Pre- and postoperative scalp EEGs were visually assessed to quantify posterior dominant alpha frequency and slow-wave (delta and theta bands) activity separately in the affected and unaffected hemispheres (AH, UH). Preoperative lateralization accuracy was also evaluated for both frequency bands. A total of 99 patients were included. Seizure freedom rates were comparable between age groups. However, younger patients exhibited a significantly greater postoperative increase in alpha frequency, particularly in the UH (20 ± 20% vs. 4 ± 10%, P < 0.001). This effect was consistent across both focal resection (17±12% vs. 1 ± 8%, P < 0.001) and hemispheric surgery (22 ± 22% vs. 7 ± 11%, P = 0.006). In contrast, slow-wave modulation did not differ by age. Preoperative alpha asymmetry correctly lateralized the surgical hemisphere in 86.9% of cases (sensitivity 85.7%, specificity 88.0%, κ = 0.74), outperforming slow-wave asymmetry (accuracy 66.7%, κ = 0.33). Early epilepsy surgery in SWS is associated with enhanced postoperative modulation of alpha frequency in the UH, possibly reflecting greater neuroplastic capacity during early development. Preoperative alpha asymmetry offers robust lateralizing value. These findings support the clinical utility of background EEG analysis in surgical planning and postoperative monitoring.
Publicações recentes
Sturge-Weber Syndrome With Leptomeningeal Angiomatosis and Middle Cerebral Artery Narrowing Treated With Intravenous Tissue Plasminogen Activator (IV tPA): A Case Report.
A Case of Previously Undiagnosed Sturge-Weber Syndrome in an African American Patient due to a Missed Port-Wine Stain.
American Epilepsy Society Clinical Practice Guideline: Infantile Epilepsy.
Unlocking the Mysteries: Stroke-like Episodes in Sturge-Weber Syndrome.
Carotid cavernous fistula in Sturge-Weber syndrome: A unique case and literature review of associated vascular malformations.
📚 EuropePMC1.170 artigos no totalmostrando 193
Retrospective study of photodynamic therapy for the GNA-Related Capillary Malformation spectrum of pediatric patients.
Photodiagnosis and photodynamic therapyPerioperative Challenges in a Patient With Sturge-Weber and Obesity Hypoventilation Syndromes.
Case reports in medicineModulation of EEG Background Rhythms in Sturge-Weber Syndrome: Impact of Surgical Timing on the Unaffected Hemisphere.
Journal of central nervous system diseaseUnilateral port wine stain on the face: a case report and review.
Canadian journal of dental hygiene : CJDH = Journal canadien de l'hygiene dentaire : JCHDIntroduction of a Brain MRI Scoring System with Clinical Relevance for Sturge-Weber Syndrome.
Academic radiologyCoping Strategies and Sense of Care Among Parents of Children Affected by Sturge-Weber Syndrome: A Cross-Sectional Study.
Nursing reports (Pavia, Italy)Spontaneous Exudative Retinal Detachment in a Child With Sturge-Weber Syndrome.
Journal of pediatric ophthalmology and strabismusDigital Subtraction Angiographic Signature of Sturge-Weber Syndrome.
Indian journal of pediatricsA rare presentation of Sturge-Weber syndrome: ocular findings in bilateral involvement.
Clinical & experimental optometryCalcineurin-NFAT-DSCR1.4 signaling as druggable axis in Gαq-R183Q-driven capillary malformations.
AngiogenesisMicropulse transscleral diode laser for pediatric glaucoma in Sturge-Weber syndrome: A bridge therapy to other treatments.
Archivos de la Sociedad Espanola de OftalmologiaAtypical Histopathological Findings in an Epilepsy Surgery Case of Sturge-Weber Syndrome With Coexisting Developmental Venous Anomaly.
Neuropathology : official journal of the Japanese Society of NeuropathologySturge-Weber Syndrome: A Rare Clinical Presentation with Bilateral Port-Wine Stain and Leptomeningeal Angiomatosis.
Indian journal of dermatologyUnusual association: Sturge-Weber syndrome with Klippel-Trenaunay syndrome.
BMJ case reportsCase Report: management of refractory glaucoma secondary to Sturge-Weber syndrome associated with ocular melanocytosis.
Frontiers in medicineMultidisciplinary Approach to Comprehensive Dental Care in Sturge-Weber Syndrome: A Case Report.
International journal of clinical pediatric dentistryA Case of Refractory Childhood Glaucoma Associated With Sturge-Weber Syndrome Treated With Baerveldt Glaucoma Implant.
Case reports in ophthalmological medicineAccidental finding of Sturge-Weber syndrome presented to the emergency department with persistent seizures: an unusual case report from Somalia.
Annals of medicine and surgery (2012)Clinical Validation of a Fast MRI Method to Evaluate Brain Vascular and Parenchymal Abnormalities in Sturge-Weber Syndrome.
Journal of magnetic resonance imaging : JMRIRe: Aktas et al: Outcomes of gonioscopy-assisted transluminal trabeculotomy in children with early-onset glaucoma secondary to Sturge-Weber syndrome (Ophthalmology Glaucoma. 2025;8:407-413).
Ophthalmology. GlaucomaExudative Retinal Detachment Without Choroidal Effusion After Glaucoma Surgery in Sturge-Weber Syndrome.
CureusR183Q GNAQ Sturge-Weber syndrome Leptomeningeal and Cerebrovascular Developmental Mouse Model.
Journal of vascular anomaliesClinical, translational and developmental biomarkers associated with intellectual and developmental disabilities across the lifespan.
Journal of neurodevelopmental disordersA Rare Case of Coexistence: Discoid Lupus Erythematosus and Sturge-Weber Syndrome.
Clinical case reportsPhacomatosis Pigmentovascularis and Sturge-Weber Syndrome: Comparative Outcomes of Primary Combined Trabeculotomy with Trabeculectomy.
Ophthalmology. GlaucomaType 3 Sturge-Weber Syndrome Presenting With Concurrent Epilepsy and Migraine.
CureusNot Just a Birthmark: A Case Report of a Subtle Port-Wine Stain Heralding Sturge-Weber Syndrome.
CureusDetection of leptomeningeal angiomas in brain MRI of Sturge-Weber syndrome using multi-scale multi-scan Mamba.
Frontiers in neuroscienceLongitudinal Neuroimaging of a Pediatric Patient With Sturge-Weber Syndrome: From Birth to Adolescence.
CureusGlaucoma Management in Sturge-Weber Syndrome Using the Delphi Process.
Ophthalmology. GlaucomaA rare case report of Sturge-Weber syndrome type 2 variant on Roach scale.
Journal of family medicine and primary careCortical hypertrophy of the contralateral hemisphere after hemispherotomy in children with Sturge-Weber syndrome: A longitudinal volumetric study.
EpilepsiaExtracellular matrix remodeling and endothelial fibrosis in Sturge-Weber syndrome secondary glaucoma: Insights from aqueous humor proteomics.
Experimental eye researchMAPK signaling and angiopoietin-2 contribute to endothelial permeability in capillary malformations.
Proceedings of the National Academy of Sciences of the United States of AmericaSturge-Weber Syndrome Without Cutaneous Stigmata Versus Encephalocraniocutaneous Lipomatosis Without Craniocutaneous Lipomatosis: A Case Report.
WMJ : official publication of the State Medical Society of WisconsinBeyond the leptomeningeal angioma: a comprehensive review of MR imaging features of Sturge-Weber Syndrome, from early vascular responses to tissue necrosis.
Pediatric radiologyGαq controls organ size and developmental timing in Drosophila.
Cell communication and signaling : CCSAnti-vascular endothelial growth factor therapies in ophthalmology.
Medical hypothesis, discovery & innovation ophthalmology journalCumulative incidence of port wine capillary malformations: A multi-institutional retrospective study.
Journal of the American Academy of DermatologyRetinal Vascular Density and Vessel Diameter in Sturge-Weber Syndrome Assessed by OCT-Angiography.
Journal of clinical medicineAdvancing Non-Invasive Ophthalmic Imaging in Sturge-Weber Syndrome: Clinical Guidelines Towards Early Choroidal Hemangioma Detection.
Journal of clinical medicineEarly Magnetic Resonance Imaging as a Screen for Sturge-Weber Syndrome-Related Seizures in Infants With Upper-Facial Capillary Malformations.
Pediatric dermatologySuccessful treatment of glaucoma in Sturge-Weber syndrome using PreserFlo™ microshunt with intraluminal stenting: a case report.
American journal of ophthalmology case reportsHigh-Flow and Low-Flow Cerebrovascular Malformations Syndromes Associated With Klippel-Trénaunay and Parkes-Weber Syndromes. A Systematic Review.
Pediatric neurologyDifficult airway and anesthesia management in a patient with sturge-weber syndrome related to excessive lip swollen and giant facial hemangioma: A case report.
Saudi journal of anaesthesiaProgress in genetic mechanisms and precise treatment of neurocutaneous syndrome-related epilepsy.
Frontiers in neurologyIntraoral capillary hemangioma in Sturge-Weber syndrome - A rare case report and its periodontal management.
Journal of Indian Society of PeriodontologySturge-Weber syndrome Type I: a rare case report.
Annals of medicine and surgery (2012)Choroidal hemangioma in Sturge-Weber syndrome elucidated by ultra-widefield swept-source optical coherence tomography angiography.
BMC ophthalmologyNew Onset of Seizures Leading to the Delayed Diagnosis of Sturge-Weber Syndrome in Adulthood: A Case Report.
CureusBiomarker development in Sturge-Weber syndrome.
Journal of neurodevelopmental disordersInositol (1,4,5)-trisphosphate 5-phosphatase promotes survival of uveal melanoma by regulating oncogenic G protein-driven calcium oscillations.
The Journal of biological chemistryNeurodevelopmental milestone acquisition following early hemispherotomy in Sturge-Weber syndrome.
SeizureCommon and distinct circulating microRNAs in four neurovascular disorders.
Biochemistry and biophysics reportsA Case of Congenital Glaucoma in a 5-Year-Old Patient With Sturge-Weber Syndrome and Oculodermal Melanocytosis.
Case reports in ophthalmological medicineAbsence of Deep and Basal Veins Is Common and Clinically Relevant in Sturge-Weber Syndrome.
Pediatric neurologyHemispherotomy for drug-resistant epilepsy in bilateral Sturge-Weber syndrome: illustrative cases.
Journal of neurosurgery. Case lessonsLate-onset seizures in Sturge-Weber syndrome Type I.
Epileptic disorders : international epilepsy journal with videotapeNuclear neuroimaging in childhood epilepsy syndromes: A systematic review.
Epilepsy & behavior : E&BThe thiazolidinedione drug troglitazone inhibits Gq signaling through direct binding to the Gq alpha subunit through inhibition of GDP release.
Molecular pharmacologyMultiple Descemet membrane splits in a neonate with Sturge weber syndrome.
Clinical & experimental optometryIntensity-modulated Radiation Therapy in the Management of Diffuse Choroidal Hemangioma in Sturge-Weber Syndrome.
Journal of ophthalmic & vision researchPreserflo™ microshunt for the treatment of refractory childhood glaucoma: A case series study.
American journal of ophthalmology case reportsSturge-Weber syndrome: unique presentation from skin, eye, palate to brain.
Eye (London, England)Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types.
Orphanet journal of rare diseasesLeptomeningeal metastasis with sturge-weber syndrome-like gyriform calcification on imaging: a case report.
BMC neurologyMultisegmental spinal arteriovenous malformation associated with the Parkes-Weber syndrome: A case report and literature review.
MedicinePseudo-Kayser-Fleischer (PKF) ring in Sturge-Weber syndrome.
BMJ case reportsCapillary malformations updates on aetiopathogenesis, diagnosis, and management.
Presse medicale (Paris, France : 1983)Minimal invasive vertical hemispherotomy in a 2.5-month-old infant with hemispheric Sturge-Weber Syndrome and recurrent status epilepticus using neuronavigation and augmented reality support.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryPrimary Diffuse Leptomeningeal Melanomatosis Initially Misdiagnosed as Type III Sturge-Weber Syndrome: A Case Report and Systematic Review of the Literature.
World neurosurgeryEffects and recurrence of proton beam therapy for retinal detachment due to choroidal hemangioma in Sturge-Weber syndrome patients: A case report.
MedicineNew Trigger for Stroke-like Episode in Sturge-Weber Syndrome: A Case Report.
Children (Basel, Switzerland)Bilateral Sturge-Weber syndrome with soft tissue hypertrophy and trichomegaly.
BMJ case reportsSturge-Weber syndrome causing choroidal haemangioma and serous retinal detachment: an overlooked diagnosis in a black patient.
BMJ case reportsNovel Presentation of Sturge-Weber Syndrome in a Boy With a Port-Wine Birthmark.
Case reports in pediatricsSturge-Weber syndrome secondary glaucoma: From Pathogenesis to Treatment.
Eye and vision (London, England)The Psychiatric Manifestations of Sturge Weber Syndrome: A Scoping Review.
Journal of child neurologyAdult Presentation of Dyke-Davidoff-Masson Syndrome, a Radiological Enigma: A Case Report.
Case reports in radiologySturge-Weber Syndrome: A Narrative Review of Clinical Presentation and Updates on Management.
Journal of clinical medicineDiffuse choroidal hemangioma: IMRT versus episcleral plaque brachytherapy.
Taiwan journal of ophthalmologySystemic barriers to rare disease management in conflict zones: insights from a refugee with sturge-weber syndrome in Sudan.
Journal of health, population, and nutritionOutcomes of Gonioscopy-Assisted Transluminal Trabeculotomy in Children with Early-Onset Glaucoma Secondary to Sturge-Weber Syndrome.
Ophthalmology. GlaucomaTriple pathology in a patient with uncontrolled epilepsy: a case report.
Journal of medical case reportsIsolated leptomeningeal angiomatosis in Sturge-weber syndrome type III: A case report with distinctive neuroimaging features.
Radiology case reportsHippocampal sclerosis in association with Sturge-weber syndrome: An intertwining of 2 epileptogenic lesions.
Radiology case reportsEpilepsy surgery in Sturge-Weber syndrome with unilateral or bilateral asymmetric brain involvement: Boston Children's Hospital experience.
EpilepsiaEthnic disparities in the treatment of port-wine stains in patients with Sturge-Weber syndrome.
Journal of the European Academy of Dermatology and Venereology : JEADVSuccessful treatment of choroidal hemangiomas in Sturge-Weber syndrome using external beam radiotherapy.
BMC ophthalmologyThe natural history of pediatric Sturge-Weber Syndrome: A multinational cross-sectional study.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyEpilepsy surgery in patients with Sturge-Weber Syndrome.
Epilepsy & behavior : E&BIntravitreal Aflibercept for Diffuse Choroidal Hemangioma in Sturge-Weber Syndrome.
Middle East African journal of ophthalmologyClinical Insights Into a Large Cohort of Phakomatosis Pigmentovascularis.
Journal of glaucomaCerebral hemiatrophy unveiled: An in-depth radiological perspective on the diagnosis and clinical implications of Dyke-Davidoff-Masson syndrome.
Radiology case reportsInnovative use of PreserFlo microshunt in an infant with Sturge-Weber syndrome-related glaucoma: Case report.
International journal of surgery case reportsTranscriptomic Profiling Unveils EDN3+ Meningeal Fibroblasts as Key Players in Sturge-Weber Syndrome Pathogenesis.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Exploring the Efficacy and Safety of Vagus Nerve Stimulation for the Treatment of Epilepsy in Patients With Sturge-Weber Syndrome: A Pilot Study.
Pediatric neurologyMultidisciplinary, multicenter consensus for the care of patients affected with Sturge-Weber syndrome.
Orphanet journal of rare diseasesChoroidal Hemangioma Treatment with Propranolol - A Case Study in Sturge-Weber Syndrome and Systematic Literature Review.
Seminars in ophthalmologyLeptomeningeal Masses or Masquerades: A Spectrum of Diseases with Leptomeningeal Enhancement and their Mimics.
Current medical imagingSWI brush sign of cerebral parenchymal veins in central nervous system diseases.
Japanese journal of radiologyA case report of macular coloboma as an ocular clinical feature in Sturge Weber Syndrome.
International journal of surgery case reportsSturge-Weber syndrome: updates in translational neurology.
Frontiers in neurologyUse of Cannabis-Based Medical Products for Pediatric Health Conditions: A Systematic Review of the Recent Literature.
Medical cannabis and cannabinoidsPhenotypic Spectrum of GNA11 R183C Mosaicism.
Pediatric dermatologyA Review of Sturge-Weber Syndrome Brain Involvement, Cannabidiol Treatment and Molecular Pathways.
Molecules (Basel, Switzerland)High Translocation of High Mobility Group Box 1 in the Brain Tissue of Patients with Sturge-Weber Syndrome.
Journal of inflammation researchDentistry and Sturge-Weber syndrome: Case report and narrative review.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryVascular Ossification in the Developing Brain: A Case Study of Pediatric Sturge Weber Syndrome.
Neuroscience bulletin[Circumscribed choroidal hemangioma in Sturge-Weber syndrome].
Pathologie (Heidelberg, Germany)Distribution of Port-Wine Birthmarks and Glaucoma Outcomes in Sturge-Weber Syndrome.
Ophthalmology. GlaucomaSturge-Weber Syndrome accompanied by Epilepsy and congenital glaucoma: A case report.
Asian journal of surgerySturge-Weber syndrome: an overview of history, genetics, clinical manifestations, and management.
Seminars in pediatric neurologyGenetic principles related to neurocutaneous disorders.
Seminars in pediatric neurologySturge weber syndrome: A case report.
Clinical case reportsSimilarities and differences between brain and skin GNAQ p.R183Q driven capillary malformations.
AngiogenesisResolution of exudative retinal detachment and optic disc edema in a child with Sturge Weber syndrome and congenital cyanotic heart disease after cardiac surgery.
American journal of ophthalmology case reportsEnhancing neurosurgical interventions for Sturge-Weber syndrome with AI technologies.
Neurosurgical reviewLooks can be deceiving: An appraisal of Sturge weber syndrome type III case series.
Brain & developmentLong-term outcomes of Ahmed glaucoma drainage device capsulectomies in pediatric glaucoma patients.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusVascular Anomalies and Congenital Infiltrating Lipomatosis May Affect Dental Maturation and Development - a Case Control Study.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationExploring the link: Sturge-Weber syndrome and pituitary macroadenomas: A case report and review.
Radiology case reportsRenal involvement in genetic neurocutaneous syndromes.
Clinical nephrologyFeasibility and Potential Diagnostic Value of Noncontrast Brain MRI in Nonsedated Children With Sturge-Weber Syndrome and Healthy Siblings.
Journal of child neurologyBevacizumab and External Beam Radiation Therapy for Diffuse Choroidal Hemangioma in Sturge-Weber Syndrome: A Case Report.
Case reports in ophthalmologyAssessment of the Corneal Biomechanical Features of Sturge-Weber Syndrome Using Dynamic Ultrahigh-speed Scheimpflug Imaging.
CorneaAlternative Venous Pathways: A Potential Key Imaging Feature for Early Diagnosis of Sturge-Weber Syndrome Type 1.
AJNR. American journal of neuroradiologyHeadache in Sturge-Weber syndrome: A systematic review.
Cephalalgia : an international journal of headacheMeasures of youth e-cigarette use: strengths, weaknesses and recommendations.
Frontiers in public healthBilateral ocular manifestations of Sturge-Weber syndrome: a rare case report.
Romanian journal of ophthalmologyHemispheric surgery in children: perisylvian technique.
Neurosurgical focus: VideoUndiagnosed Epileptic Case Since Childhood of Sturge-Weber Syndrome: First Case Report from Somalia.
International medical case reports journalCerebrofacial Venous Metameric Syndrome Mimicking Vein of Galen Aneurysmal Malformation.
World neurosurgeryAn Atypical Seizure Onset and Re-Emergence in a Refugee with an Undiagnosed Sturge-Weber Syndrome: A Case Report from a Limited Setting.
International medical case reports journalDyke-Davidoff-Masson syndrome secondary to Sturge-Weber syndrome.
Asian journal of surgerySeizure, Motor, and Cognitive Outcomes After Epilepsy Surgery for Patients With Sturge-Weber Syndrome: Results From a Multicenter Study.
NeurologyEpileptic seizures as an initial symptom for Sturge‑Weber syndrome type III: A report of two cases.
Experimental and therapeutic medicineTime to change our approach to presymptomatic treatment of Sturge-Weber syndrome.
Developmental medicine and child neurologyDiagnostic pathway and management of first seizures in infants with Sturge-Weber syndrome.
Developmental medicine and child neurologyRadio-pathologic correlation: no pial angioma-subarachnoid varicose network drainage pathway in Sturge-Weber syndrome.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgerySurgical Orthodontic Treatment for Skeletal Maxillary Protrusion in Sturge-Weber Syndrome: A Case Report and Review of the Literature.
CureusUnmasking Sturge-Weber syndrome in adulthood: a case with extrafacial port-wine stain and delayed neurological symptoms.
Annals of medicine and surgery (2012)An Ultrasound Biomicroscopy Study of Acute Hydrops in Neonatal Glaucoma with Sturge-Weber Syndrome.
Ophthalmology. GlaucomaPopulation-based study of rare epilepsy incidence in a US urban population.
EpilepsiaUnilateral Glaucoma Without Facial Angioma in a Pediatric Patient: A Suspected Sturge-Weber Syndrome Variant.
Journal of pediatric ophthalmology and strabismusThe profile of epilepsy and its characteristics in children with neurocutaneous syndromes.
Journal of neurosciences in rural practiceRetrospective Analysis of Presymptomatic Treatment In Sturge-Weber Syndrome.
Annals of the Child Neurology SocietyVariation in neuroimaging and outcomes in patients with Sturge Weber syndrome Type III.
Brain & developmentMoving Beyond Hemangioma: Interactive, Multidisciplinary, Case-Based Teaching in Vascular Anomalies for Pediatric Residents.
MedEdPORTAL : the journal of teaching and learning resourcesOverlapping Spots of Photodynamic Therapy for Treatment of Choroidal Hemangioma in Sturge-Weber Syndrome: A Case Report.
Case reports in ophthalmologySturge-Weber syndrome with cemento-ossifying fibroma in the maxilla and giant odontoma in the mandible: A case report.
HeliyonSturge-Weber syndrome: an update for the pediatrician.
World journal of pediatrics : WJPOral Sirolimus for Diffuse Choroidal Hemangioma in Sturge-Weber Syndrome.
JAMA ophthalmologyAnesthetic management of a patient with Sturge-Weber syndrome in sagittal split ramus osteotomy surgery.
Clinical case reportsMRC1 and LYVE1 expressing macrophages in vascular beds of GNAQ p.R183Q driven capillary malformations in Sturge Weber syndrome.
Acta neuropathologica communicationsDyke-Davidoff-Masson Syndrome as a Rare Cause of Cerebral Hemiatrophy: Insights From a Case Series.
CureusSurgical Outcomes of Early Versus Late Onset Glaucoma Associated With Sturge-Weber Syndrome.
Journal of glaucomaSturge-Weber syndrome with massive macroglossia and anterior neck space infection- a case report and review of literature.
JPMA. The Journal of the Pakistan Medical AssociationQuantification of enlarged deep medullary vein volumes in Sturge-Weber syndrome.
Quantitative imaging in medicine and surgeryNeurological function and drug-refractory epilepsy in Sturge-Weber syndrome children: a retrospective analysis.
European journal of pediatricsMyelin-oligodendrocyte glycoprotein antibody-positive encephalitis in a patient with Sturge-Weber syndrome.
Radiology case reportsSturge-Weber Syndrome: A Case Report.
JNMA; journal of the Nepal Medical AssociationSturge-Weber Syndrome: A Report of a Rare Case.
CureusPeculiar aetiology for orbital apex syndrome: Wyburn-Mason syndrome as orbital apex lesion.
BMJ neurology openClinical and pathologic features of Sturge-Weber syndrome in patients with refractory epilepsy.
American journal of clinical pathologyTreatment Outcomes of Primary Combined Trabeculotomy With Trabeculectomy in Early Onset Glaucoma With Sturge-Weber Syndrome.
Journal of glaucomaA deep insight on psychological aspect in patients with Sturge-Weber syndrome.
Journal of education and health promotionA rare presentation of asymmetric limb hypertrophy and diffuse capillary malformations in a pediatric patient with Loeys-Dietz syndrome type 3.
JAAD case reportsDiffuse choroidal hemangioma in pregnancy: Symptomatic diffuse choroidal hemangioma spontaneously resolving postpartum.
Oman journal of ophthalmologyCharacterization of Patient-Derived GNAQ Mutated Endothelial Cells from Capillary Malformations.
The Journal of investigative dermatologyHypothalamic-pituitary dysfunction in Sturge-Weber syndrome: case report and review of the literature.
Journal of pediatric endocrinology & metabolism : JPEMFrank's Sign: A Link Between Dermatovenerology, Cardiac Pathology, and Neurology.
Acta dermatovenerologica Croatica : ADCInterhemispheric Vertical Hemispherotomy: Technique, Outcome, and Pitfalls-A Bicentric Retrospective Case Series of 39 Cases.
Operative neurosurgery (Hagerstown, Md.)Determinants of Functional Outcome after Pediatric Hemispherotomy.
Annals of neurologySturge-Weber Syndrome and Hippocampal Sclerosis: Two Epileptogenic Conditions in One Patient.
Neurology IndiaAn Update on Multimodal Ophthalmological Imaging of Diffuse Choroidal Hemangioma in Sturge-Weber Syndrome.
Vision (Basel, Switzerland)Letter Regarding "Clinicopathological Analysis of Sturge-Weber Syndrome With Focal Cortical Dysplasia FCD IIIc".
Fetal and pediatric pathologySturge-Weber syndrome type III: an important stroke mimic.
BMJ case reportsLate-Onset Status Epilepticus Associated With Isolated Leptomeningeal Angioma and Sturge-Weber Syndrome-Related GNA11 Pathogenic Variation.
NeurologyGNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.
The Journal of investigative dermatologyGNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics.
The Journal of investigative dermatologyArterial spin-labeled (ASL) perfusion in children with Sturge-Weber syndrome: a retrospective cross-sectional study.
NeuroradiologyParkes Weber syndrome: a rare cause of foot drop.
BMJ case reportsIncidence of and Risk Factors for Fellow-Eye Involvement in Sturge-Weber Syndrome Children With Unilateral Glaucoma.
Journal of glaucoma[Medium-term efficacy and safety analysis of Ex-PRESS shunt implantation for the treatment of secondary glaucoma in Sturge-Weber syndrome].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology[Analysis of disease composition and primary surgical procedures in pediatric secondary glaucoma inpatients: a single-center study].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmologySomatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.
Orphanet journal of rare diseasesGNAQ R183Q somatic mutation contributes to aberrant arteriovenous specification in Sturge-Weber syndrome through Notch signaling.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologySturge Weber syndrome and rod cone dystrophy.
QJM : monthly journal of the Association of PhysiciansPsychosis in a Patient With Sturge-Weber Syndrome: A Case Report and Literature Review.
The primary care companion for CNS disordersSurgery for Port-Wine Stains: A Systematic Review.
Journal of personalized medicineCreating rare epilepsy cohorts using keyword search in electronic health records.
EpilepsiaTHE RETINAL DEEP CAPILLARY PLEXUS AS A VENOUS OUTFLOW SYSTEM: INSIGHTS FROM STURGE-WEBER SYNDROME.
Retinal cases & brief reportsAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Unusual association: Sturge-Weber syndrome with Klippel-Trenaunay syndrome.
- Digital Subtraction Angiographic Signature of Sturge-Weber Syndrome.
- Retrospective study of photodynamic therapy for the GNA-Related Capillary Malformation spectrum of pediatric patients.
- Perioperative Challenges in a Patient With Sturge-Weber and Obesity Hypoventilation Syndromes.
- Modulation of EEG Background Rhythms in Sturge-Weber Syndrome: Impact of Surgical Timing on the Unaffected Hemisphere.
- Sturge-Weber Syndrome With Leptomeningeal Angiomatosis and Middle Cerebral Artery Narrowing Treated With Intravenous Tissue Plasminogen Activator (IV tPA): A Case Report.
- A Case of Previously Undiagnosed Sturge-Weber Syndrome in an African American Patient due to a Missed Port-Wine Stain.
- American Epilepsy Society Clinical Practice Guideline: Infantile Epilepsy.
- Unlocking the Mysteries: Stroke-like Episodes in Sturge-Weber Syndrome.
- Carotid cavernous fistula in Sturge-Weber syndrome: A unique case and literature review of associated vascular malformations.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:3205(Orphanet)
- OMIM OMIM:185300(OMIM)
- MONDO:0008501(MONDO)
- GARD:7706(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1886238(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
