1,802 results match your criteria Sturge-Weber Syndrome

GNA11-mutated Sturge-Weber Syndrome has distinct neurologic and dermatologic features.

Eur J Neurol 2022 Jun 17. Epub 2022 Jun 17.

Cliniques universitaires Saint-Luc, Center for vascular anomalies, division of Plastic surgery, Brussels, Belgium.

Background: Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by clinical manifestations involving the brain, eye and skin. SWS is commonly caused by somatic mutations in G protein subunit Alpha Q (GNAQ). Subunit Alpha 11 (GNA11) mutations have been reported in 5 cases. Read More

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Clinical characteristics of infants with port-wine stain and glaucoma secondary to Sturge-Weber Syndrome.

BMC Ophthalmol 2022 Jun 9;22(1):260. Epub 2022 Jun 9.

Department of Ophthalmology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.

Background: Sturge-Weber Syndrome (SWS) is a rare disease involving the eye, skin, and brain. Port-wine stain (PWS) and glaucoma are common clinical manifestations. This study analysed the clinical characteristics of infants with PWS and glaucoma secondary to SWS. Read More

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A novel somatic mutation in GNAQ in a capillary malformation provides insight into molecular pathogenesis.

Angiogenesis 2022 May 30. Epub 2022 May 30.

Molecular Genetics & Microbiology, Duke University Medical Center, Durham, NC, USA.

Sturge-Weber syndrome (SWS) is a sporadic, congenital, neuro-cutaneous disorder characterized by a mosaic, capillary malformation. SWS and non-syndromic capillary malformations are both caused by a somatic activating mutation in GNAQ encoding the G protein subunit alpha-q protein. The missense mutation R183Q is the sole GNAQ mutation identified thus far in 90% of SWS-associated or isolated capillary malformations. Read More

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[Cutaneous capillary malformations with cerebral implementation].

Ugeskr Laeger 2022 May;184(19)

Neurokirurgisk Afdeling, Odense Universitetshospital.

Capillary malformations - arteriovenous malformation, hereditary hemorrhagic telangiectasia and Sturge-Weber syndrome - are rare diseases in which cutaneous capillary malformations (CM) may be associated with cerebral vascular malformations. The clinical presentation of each disease is described with focus on how to distinguish them in the clinic and differential diagnoses are listed. This review finds that upon thorough and careful examination of patients, cutaneous CM might be a diagnostic hallmark for underlying disease and therefore a significant clinical observation. Read More

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Presentation, Etiology, Outcome, and Differentiation of Visual Semiology of Adult Occipital Epilepsy From Visual Aura of Migraine Headache: A Prospective Study in a Tertiary Care Center in Bangladesh.

Cureus 2022 Apr 16;14(4):e24186. Epub 2022 Apr 16.

Neurology, Dhaka Medical College Hospital, Dhaka, BGD.

Background: Occipital epilepsy is an uncommon and likely underdiagnosed type of epilepsy that is often misdiagnosed as a migraine with aura. High clinical suspicion and subsequent electroencephalogram (EEG) and brain imaging lead to early diagnosis.  Methods: We recruited patients with occipital epilepsy based on visual semiology, structural abnormalities in the occipital region, or EEG changes who visited the Department of Neurology of Dhaka Medical College from June 2019 to January 2020. Read More

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[Child with a vascularized throat mass].

HNO 2022 May 17. Epub 2022 May 17.

Klinik und Poliklinik für Hals-Nasen-Ohrenheilkunde, Ludwig-Maximilians-Universität München (LMU)-Klinikum, Marchioninistr. 15, 81377, München, Deutschland.

We report the case of an 11-year-old girl with difficultly speaking and a history of singular, self-limiting oral bleeding. Clinical and radiological examination in the emergency room showed a vascularized tumor of the base of the tongue, which almost completely occluded the oropharynx. After complex anesthesiologic preparation and endoluminal embolization, the tumor was safely removed by transoral laser microsurgery. Read More

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Posterior quadrant disconnection for refractory epilepsy: how I do it.

Acta Neurochir (Wien) 2022 May 17. Epub 2022 May 17.

Neurodynamics Laboratory, Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Background: Posterior quadrant disconnection (PQD) is intended to interrupt the propagation of intractable unilateral temporo-parieto-occipital epilepsy.

Method: An enhanced operative video presents the illustrative case of a total PQD indicated for a 15-year-old boy with Sturge-Weber syndrome suffering from seizure recurrence after a partial PQD. We describe the surgical procedure with emphasis on relevant anatomy and multimodal intraoperative guidance in three steps: (i) parieto-occipital disconnection, (ii) posterior callosotomy, and (iii) temporal disconnection/resection. Read More

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The choroid plexus as a diagnostic tool in Sturge-Weber syndrome.

Martino Ruggieri

Eur J Paediatr Neurol 2022 May 10;38:A4-A5. Epub 2022 May 10.

Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, University of Catania, Italy. Electronic address:

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Focal lesionectomy as surgical treatment of epilepsy in patients with Sturge-Weber syndrome: a case-based systematic review and meta-analysis.

Neurosurg Focus 2022 05;52(5):E4

1Department of Neurosurgery, University Hospital of Basel.

Objective: Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder presenting mostly with a facial port-wine stain and leptomeningeal angiomatosis. More than 85% of the patients are affected by epilepsy by the age of 2 years. Seizure and symptom control is the focus of SWS treatment, since no causal therapy exists yet. Read More

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Management of Glaucoma in an Adult Presentation of Sturge-Weber Syndrome.

Cureus 2022 Mar 31;14(3):e23699. Epub 2022 Mar 31.

Department of Radiology, Jordan Ministry of Health, Amman, JOR.

Sturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome. It is described by the presence of leptomeningeal angiomas, ocular involvement such as choroidal hemangioma and glaucoma, and port-wine stain over the face. Management of SWS-associated ocular complications is challenging and needs regular follow-ups. Read More

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A review of the natural history of Sturge-Weber syndrome through adulthood.

J Neurol 2022 May 5. Epub 2022 May 5.

AP-HP, Epilepsy Unit, GH Pitié-Salpêtrière-Charles Foix, 47-83 Boulevard de l'Hôpital, 75013, Paris, France.

Background: Sturge-Weber syndrome (SWS) is a neurocutaneous disorder caused by a somatic mutation in the GNAQ gene, leading to capillary venous malformations with neurological, ocular, and cutaneous abnormalities. Descriptions of adult and elderly patients with SWS are scarce compared to those of neonates or children.

Methods: We reviewed clinical, neuro-radiological and electroencephalographical findings of adult patients diagnosed with SWS, treated in our tertiary center for rare epilepsies. Read More

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Magnetic Resonance Imaging Evaluation of Hemangioma Resection for Encephalofacial Angiomatosis (Sturge-Weber Syndrome) in Children under Intelligent Algorithm.

Contrast Media Mol Imaging 2022 8;2022:7399255. Epub 2022 Apr 8.

Department of Plastic Surgery, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Taizhou 317000, Zhejiang, China.

This study was aimed to evaluate the clinical efficacy of hemangioma resection in the treatment of infantile encephalofacial angiomatosis (Sturge-Weber syndrome, SWS) through magnetic resonance imaging (MRI) images, and intelligent algorithms were employed to process MRI images. A retrospective study of 45 children diagnosed with facial hemangioma admitted to hospital was conducted. Then, MRS images were acquired, and a mathematical model for MRI image denoising and reconstruction was constructed based on nonlocal similar block low-rank prior algorithms. Read More

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Sturge-Weber Syndrome with Bilateral Port-Wine Stain.

Case Rep Pediatr 2022 15;2022:2191465. Epub 2022 Apr 15.

Department of Pediatrics, Nepalese Army Institute of Health Sciences, College of Medicine, Kathmandu, Nepal.

Sturge-Weber syndrome is a rare congenital neurocutaneous disorder characterized by dermatological, ophthalmological, and neurological manifestations. It occurs due to abnormal persistence of embryonic vascular plexus. Here, we describe a case of four years seven months female with seizures, developmental delay, intellectual disability, and bilateral port-wine stain diagnosed as type I (classical) Sturge-Weber syndrome. Read More

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Early MRI diagnosis of Sturge Weber Syndrome type 1 in infants.

Eur J Paediatr Neurol 2022 May 13;38:66-72. Epub 2022 Apr 13.

Department of Neuroradiology, ErasmusMC- Sophia Children's Hospital, Rotterdam, the Netherlands.

Background: Patients with Sturge-Weber syndrome type 1 (SWS1) have a port-wine birthmark (PWB) as cutaneous hallmark. Up to 35% of neonates with a high risk PWB develop SWS1. Clinical manifestations are severe and often progressive. Read More

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Computed tomography angiography-assisted embolization of arteriovenous malformation prior to dental extractions in a patient with Sturge-Weber syndrome.

Oral Surg Oral Med Oral Pathol Oral Radiol 2022 Jan 5. Epub 2022 Jan 5.

Professor and Director of Oral and Maxillofacial Surgery Residency Program, Chair of Oral and Maxillofacial Surgery Service, Clementino Fraga Filho University Hospital, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.

Sturge-Weber syndrome is a developmental condition characterized by hamartomatous vascular proliferation involving the tissues of the brain and face. Hemangiomatous proliferations and arterial venous malformations are common intraoral alterations that may be fatal due to incontrollable bleeding when performing surgical procedures in the face. The goal of this case report is to present the management of a 21-year-old woman with Sturge-Weber syndrome in whom it was necessary to perform embolization guided by computed tomography angiography before multiple tooth extractions. Read More

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January 2022

Teaching NeuroImage: Sturge-Weber Syndrome in an Adult.

Neurology 2022 05 11;98(19):814-815. Epub 2022 Apr 11.

From the Departments of Neurology (F.A.N., J.R.M., M.B.W., S.F.Z.), and Radiology (S.M.S.), Massachusetts General Hospital, Harvard Medical School, Boston, MA.

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The outcomes of trans-scleral cyclophotocoagulation in pediatric glaucoma secondary to Sturge-Weber syndrome.

J AAPOS 2022 04 17;26(2):78.e1-78.e5. Epub 2022 Mar 17.

King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

Purpose: To report the outcomes of trans-scleral cyclophotocoagulation (TSCPC) in pediatric glaucoma secondary to Sturge-Weber syndrome (SWS).

Methods: The medical records of all SWS glaucoma cases in the pediatric age group (<18 years of age) that underwent TSCPC at our institute from January 2000 to September 2017.

Results: A total of 22 eyes of 22 patients were included. Read More

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Ocular manifestations of systemic diseases in children.

Clin Exp Optom 2022 Mar 16:1-11. Epub 2022 Mar 16.

Department of Ophthalmology, Children's Health Queensland Hospital and Health Service, Brisbane, Queensland, Australia.

Knowledge of ocular diseases and understanding of the complex interplay between eye and systemic health have increased over the years. This knowledge is particularly important when caring for our youngest and most vulnerable paediatric patients when ophthalmic manifestations may provide an insight to underlying systemic diseases and can act as the first indicator of an undiagnosed systemic condition. Further, the visual system can be vulnerable to manifestations of known systemic disease, with vigilant ophthalmic examination generally aiding early identification of ocular complications for collaborative multidisciplinary care to prevent avoidable vision loss. Read More

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Diagnostic challenges of primary diffuse leptomeningeal melanomatosis in early adolescence: A case report.

Brain Dev 2022 Jun 5;44(6):421-425. Epub 2022 Mar 5.

Division of Clinical Laboratory, Nagano Children's Hospital, Japan.

Introduction: Primary diffuse leptomeningeal melanomatosis is an extremely rare variant of primary melanoma of the central nervous system. It is characterized by a variety of nonspecific clinical, radiological, and histopathological features requiring differential diagnosis from a variety of diseases. Here, we aimed to use our own clinical case as an example of the difficulties in the diagnosis of this disease. Read More

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Hematoporphyrin monomethyl ether photodynamic therapy for the treatment of Sturge-Weber syndrome and large segmental facial port-wine stain.

Dermatol Ther 2022 May 28;35(5):e15404. Epub 2022 Feb 28.

Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China.

Hematoporphyrin monomethyl ether (HMME) is a newly authorized photosensitizer for the treatment of port-wine stain (PWS) in China. However, no research on its efficacy for treating PWS lesions of Sturge-Weber syndrome (SWS) has been made. To assess the efficacy and safety of HMME-photodynamic therapy (PDT) in the treatment of SWS and simple large segmental facial PWS. Read More

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Managing pregnancy in women with Sturge-Weber syndrome: case report and review of the literature.

J Obstet Gynaecol 2022 Feb 15:1-6. Epub 2022 Feb 15.

Department of Obstetrics & Gynecology, Jawaharlal Institute of Postgraduate Medical Education & Research (JIPMER), Puducherry, India.

Sturge-Weber syndrome (SWS) is a sporadic congenital neuro-cutaneous anomaly with capillary-venous malformation involving the brain, eye, and the ophthalmic division of the trigeminal nerve. In these cases, physiological changes in pregnancy, including hormonal and hemodynamic changes, may predispose to increased seizure frequency and even a life-threatening intracranial haemorrhage. There are only few case reports available about the management of women with pregnancy and SWS. Read More

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February 2022

Study protocol: retrospectively mining multisite clinical data to presymptomatically predict seizure onset for individual patients with Sturge-Weber.

BMJ Open 2022 Feb 4;12(2):e053103. Epub 2022 Feb 4.

Fetal-Neonatal Neuroimaging and Developmental Science Center, Boston Children's Hospital, Boston, Massachusetts, USA

Introduction: Secondary analysis of hospital-hosted clinical data can save time and cost compared with prospective clinical trials for neuroimaging biomarker development. We present such a study for Sturge-Weber syndrome (SWS), a rare neurovascular disorder that affects 1 in 20 000-50 000 newborns. Children with SWS are at risk for developing neurocognitive deficit by school age. Read More

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February 2022

Introduction of Mutant GNAQ into Endothelial Cells Induces a Vascular Malformation Phenotype with Therapeutic Response to Imatinib.

Cancers (Basel) 2022 Jan 14;14(2). Epub 2022 Jan 14.

Department of Dermatology, Emory University School of Medicine, Atlanta, GA 30322, USA.

GNAQ is mutated in vascular and melanocytic lesions, including vascular malformations and nevi. No in vivo model of GNAQ activation in endothelial cells has previously been described. We introduce mutant GNAQ into a murine endothelial cell line, MS1. Read More

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January 2022

Approach to childhood glaucoma: A review.

Clin Exp Ophthalmol 2022 03 25;50(2):232-246. Epub 2022 Jan 25.

Speciality of Ophthalmology, Save Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.

Childhood glaucoma represents a heterogenous group of rare ocular conditions that may result in significant sight threatening complications related to elevated intraocular pressure (IOP). It can be classified as either primary or secondary and the latter may have systemic associations. This review will be based on the work of the childhood glaucoma research network (CGRN) and will focus on the diagnosis and management of the most common types of childhood glaucoma. Read More

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Sturge-Weber Syndrome and Glaucoma.

J Pharm Bioallied Sci 2021 Nov 10;13(Suppl 2):S1765-S1768. Epub 2021 Nov 10.

Department of Opthalmology, Arasan Eye Hospital, Erode, Tamilnadu, India.

Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome characterized by capillary venous malformations in the skin, eye, and brain with the occurrence of angiomas of the face, choroid, and leptomeninges. The characteristics signs include facial port-wine birth mark, glaucoma, choroidal hemangioma with brain malformations, and cognitive abnormalities. In this article, we have documented the case report of a 24-year-old male with SWS presenting with glaucoma. Read More

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November 2021

Coexistence of Neonatal Lupus Erythematous and Sturge-Weber Syndrome.

Case Rep Dermatol Med 2021 30;2021:3616429. Epub 2021 Dec 30.

Department of Dermatology, Mashhad University of Medical Sciences, Mashhad, Iran.

Neonatal lupus erythematous (NLE) is a rare condition presented by lupus dermatitis shortly after birth or later following sun exposure. Sturge-Weber syndrome (SWS) is also an uncommon congenital condition characterized by extensive capillary malformation and ophthalmic and/or neurologic involvement. Here, we describe the first case of coexistence of NLE and SWS which posed a significant diagnostic challenge to clinicians. Read More

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December 2021

Variable histopathology features of neuronal dyslamination in the cerebral neocortex adjacent to epilepsy-associated vascular malformations suggest complex pathogenesis of focal cortical dysplasia ILAE type IIIc.

Brain Pathol 2022 Jan 9:e13052. Epub 2022 Jan 9.

Department of Neuropathology, Research Institute for Brain and Blood Vessels, Akita Cerebrospinal and Cardiovascular Center, Akita, Japan.

Focal cortical dysplasia type IIIc (FCD-IIIc) is histopathologically defined by the International League Against Epilepsy's classification scheme as abnormal cortical organization adjacent to epilepsy-associated vascular malformations (VM). However, the incidence of FCD-IIIc, its pathogenesis, or association with the epileptogenic condition remains to be clarified. We reviewed a retrospective series of surgical brain specimens from 14 epilepsy patients with leptomeningeal angiomatosis of Sturge-Weber syndrome (LMA-SWS; n = 6), cerebral cavernous malformations (CCM; n = 7), and an arteriovenous malformation (AVM; n = 1) to assess the histopathological spectrum of FCD-IIIc patterns in VM. Read More

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January 2022

Complex vascular anomalies and tissue overgrowth of limbs associated with increased skin temperature and peripheral venous dilatation: parks weber syndrome or PROS?

Hereditas 2022 Jan 4;159(1). Epub 2022 Jan 4.

Department of Interventional Therapy, Multidisciplinary Team of Vascular Anomalies, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University, Shanghai, People's Republic of China.

PIK3CA-related overgrowth spectrum (PROS) is a series of congenital, sporadic disorders that are associated with segmental overgrowth phenotypes and postzygotic, somatic gene mutations in the PIK3CA-ATK-mTOR pathway. The variability and overlapping phenotypes between PROS and other complex vascular malformations make the differential diagnosis confusing and challenging. PROS should be considered for the differential diagnosis with other complex vascular malformations and syndromes with a tissue overgrowth phenotype, such as Parkes-Weber syndrome (PWS). Read More

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January 2022

Characteristics, surgical outcomes, and influential factors of epilepsy in Sturge-Weber syndrome.

Brain 2021 Dec 21. Epub 2021 Dec 21.

Department of Neurosurgery, SanBo Brain Hospital, Capital Medical University, Beijing 100093, China.

Few studies have reported the clinical presentation, surgical treatment, outcomes, and influential factors for patients with epilepsy and Sturge-Weber syndrome. This large-scale retrospective study continuously enrolled 132 patients with Sturge-Weber syndrome and epilepsy from January 2008 to December 2018 at our hospital to analyze their characteristics. Among these patients, 90 underwent epilepsy surgery, and their postoperative 2-year follow-up seizure, cognitive, and motor functional outcomes were assessed and analyzed. Read More

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December 2021

Phacomatosis pigmentovascularis with sturge-weber syndrome and congenital glaucoma: A rare case report.

Eur J Ophthalmol 2021 Dec 17:11206721211067886. Epub 2021 Dec 17.

Dept. of Ophthalmology, 29988JIPMER, Puducherry, Puducherry, India.

Phacomatosis pigmentovascularis (PPV) is a rare congenital disease characterized by the co-existence of cutaneous vascular malformation and pigmentary nevi with or without extracutaneous systemic involvement. Here, we present a 2-month old child diagnosed with phacomatosis cesioflammea type of PPV with Sturge-Weber syndrome and secondary congenital glaucoma of the left eye. She underwent combined trabeculotomy and trabeculectomy in the left eye for glaucoma and was started on anti-epileptics for seizure control following pediatric evaluation. Read More

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December 2021