1,894 results match your criteria Sturge-Weber Syndrome


The prevalence and profile of autism in Sturge-Weber syndrome.

J Autism Dev Disord 2021 May 27. Epub 2021 May 27.

Great Ormond Street Hospital, London, WC1N 3JH, UK.

A systematic retrospective case note review was undertaken to investigate autism diagnostic factors in 124 individuals with Sturge-Weber syndrome (SWS). Social Responsiveness Scale questionnaires were then analysed to explore the severity and profile of autism characteristics in 70 participants. Thirty-two to forty percent of participants had a clinical diagnosis of autism and half of those without a diagnosis showed significant social communication difficulties. Read More

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Choroidal melanoma in phakomatosis pigmentovascularis with overlapping Sturge-Weber syndrome and Klippel-Trenaunay syndrome.

Retin Cases Brief Rep 2021 Apr 16. Epub 2021 Apr 16.

From the Ocular Oncology Service, Department of Ophthalmology, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

Purpose: T' trunk, along with hemi-hypertrophy of the left side of the face and left upper limb, presented for evaluation of an intraocular mass of the left eye (OS). Anterior examination OS showed diffuse episcleral and iris melanocytosis. Fundus examination OS showed diffuse choroidal melanocytosis as well as an elevated choroidal lesion. Read More

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Current concepts on diffuse choroidal hemangioma in Sturge Weber syndrome.

Ophthalmic Genet 2021 Apr 12:1-8. Epub 2021 Apr 12.

Ophthalmology Unit, Neurosciences, Mental Health, and Sense Organs (NESMOS) Department, Sapienza University of Rome, Faculty of Medicine and Psychology, St. Andrea Hospital, Rome, Italy.

: Diffuse choroidal hemangioma (DCH) is a benign vascular tumor that is characteristically found in the Sturge-Weber syndrome (SWS). Recent genetic discoveries demonstrate that DCH occurs sporadically from an activating mutation in at codon . Mutations in or result in dysregulation of the mitogen-activated protein kinase, which influences gene transcription and results in cellular proliferation. Read More

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Encephalotrigeminal Angiomatosis with Facial Lobular Capillary Hemangioma: An Unusual Case Report.

Int J Appl Basic Med Res 2021 Jan-Mar;11(1):44-46. Epub 2021 Jan 26.

Department of Oral and Maxillofacial Pathology, BVDU Dental College, Sangli, Maharashtra, India.

Encephalotrigeminal angiomatosis, also called Sturge-Weber syndrome (SWS), is a syndrome of etiology which is not yet clear. It is a nonhereditary condition. The clinical features include pigmentation over the facial skin known as port-wine stain, abnormalities of ocular region, and central nervous system involvement as leptomeningeal angioma. Read More

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January 2021

Multicenter Research Data of Epilepsy Management in Patients With Sturge-Weber Syndrome.

Pediatr Neurol 2021 Jun 5;119:3-10. Epub 2021 Mar 5.

Department of Neurology, Hugo Moser Kennedy Krieger Research Institute, Baltimore, Maryland; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Pediatrics, Johns Hopkins Hospital, Johns Hopkins University School of Medicine, Baltimore, Maryland. Electronic address:

Background: Epilepsy in typical Sturge-Weber syndrome (SWS) is common, and many questions remain regarding the treatment outcomes. We analyzed a large multicenter database with focus on neurological drug treatment in different demographic and SWS characteristic groups.

Methods: A total of 268 patients with brain involvement and a history of seizures were selected from a research data registry generated from a multicenter cross-sectional questionnaire. Read More

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[Periodontal rehabilitation in a deaf patient with symptomatic epilepsy in Sturge-Weber syndrome - a case report].

Swiss Dent J 2021 Apr;131(4):327-338

Klinik für Zahnerhaltung und Präventivzahnmedizin, Zentrum für Zahnmedizin, Universität Zürich, Zürich, Schweiz.

When a syndrome forms the background of a systemic involvement of periodontal disease, it is necessary to fully exploit the resources outside, which soon reaches its limits in private practice. In the patient's environment, it must be checked whether support for the patient can be guaranteed. Without support, as in this presented case, the patient's oral hygiene could hardly be maintained. Read More

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The Diagnostic Value of Congenital and Nevoid Cutaneous Lesions Associated with Autism Spectrum Disorders in Indian Children- A Case-Control Study.

Indian Dermatol Online J 2021 Jan-Feb;12(1):84-89. Epub 2021 Jan 16.

Division of Gastrointestinal Sciences, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.

Background And Aims: Cutaneous lesions are the defining features of several neurocutaneous syndromes like neurofibromatosis1(NF1), tuberous sclerosis complex (TSC), and Sturge Weber syndrome to name a few. With this background, we explored the possibility of identifying congenital and nevoid cutaneous markers that may help in the early recognition of autism spectrum disorders (ASD) in Indian children. The objective of this study was to measure the strength of association between congenital and nevoid cutaneous lesions and ASD among Indian children. Read More

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January 2021

[Features of the architectonics of the structures of the nasal cavity and choanal zone in children with congenital malformations of the eyes].

Vestn Otorinolaringol 2021 ;86(1):63-67

N.I. Pirogov Russian National Research Medical University, Moscow, Russia.

The article provides data on the embryogenesis of the eyeball, nasolacrimal canal and nasal cavity. A frequent combination of congenital choanal atresia and anomalies in the development of the eyes was noted, most likely associated with the temporal and topographic parallelism of the intrauterine development of these anatomical areas. In order to assess the condition of the nasal cavity and choanal region in congenital eye pathology, 43 children with ophthalmological malformations were examined. Read More

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Somatic GNAQ R183Q mutation is located within the sclera and episclera in patients with Sturge-Weber syndrome.

Br J Ophthalmol 2021 Mar 11. Epub 2021 Mar 11.

Department of Ophthalmology, Shanghai 9th People's Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200011, China

Aims: To determine the correspondence between GNAQ R183Q (c.548G>A) mutation in abnormal scleral tissue of patients with Sturge-Weber syndrome (SWS) secondary glaucoma and explore the role of GNAQ R183Q in glaucoma pathogenesis.

Methods: Episcleral tissues were obtained from 8 patients: SWS secondary glaucoma (n=5) and primary congenital glaucoma (PCG, n=3). Read More

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Extent of Leptomeningeal Capillary Malformation is Associated With Severity of Epilepsy in Sturge-Weber Syndrome.

Pediatr Neurol 2021 Apr 31;117:64-71. Epub 2020 Dec 31.

Department of Neurosurgery, Juntendo University, Bunkyo-ku, Tokyo, Japan.

Background: Individuals with Sturge-Weber syndrome (SWS) often expereince intractable epilepsy and cognitive decline. We hypothesized that the extent of the leptomeningeal capillary malformation (LCM) may correlate with the severity of neurological impairment due to SWS. We tested the hypothesis in a cross-sectional study of seizure severity and electroencephalographic (EEG) findings and a retrospective cohort study for surgical indications related to the extent of the LCM. Read More

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Surgical Management of Odontogenic Infection in Sturge-Weber Syndrome: Report of a Case.

J Craniofac Surg 2021 Mar 4. Epub 2021 Mar 4.

Post-graduate student, Department of Oral and Maxillofacial Surgery, School of Dentistry, Universidade de Pernambuco (FOP/UPE) Oral and Maxillofacial Surgery (HUOC/FOP/UPE). University of Pernambuco Oral and Maxillofacial Surgery, Hospital de Emergência e Trauma Dom Luiz Gonzaga Fernandes Faculty of Dentistry of Pernambuco Oral and Maxillofacial Surgery (HR/FOP/UPE). University of Pernambuco Maxillofacial Surgery and Traumatology Service of Hospital da Restauração Oral and Maxillofacial Surgery, University of Pernambuco. Head of the Hospital da Restauração. Pernambuco, Brazil.

Abstract: Surgical management of odontogenic infections in Sturge-Weber Syndrome is challenging, due to the risk of massive bleeding and difficulty to achieve hemostasis. The authors describe the use of preoperative vascular embolization for oral surgery in a 29-year-old patient. The authors highlight the importance of hemostatic agents and primary wound closure and the role of vascular embolization as a potential tool for preventing hemorrhage in these cases. Read More

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Retinal Detachment in a 40-Year-Old Man With Sturge-Weber Syndrome.

JAMA Ophthalmol 2021 May;139(5):581-582

Department of Ophthalmology, Massachusetts Eye and Ear, Boston.

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Treatment of Port Wine Birthmarks in Sturge-Weber Syndrome Using Topical Timolol.

J Pediatr Ophthalmol Strabismus 2020 Feb 22;58:e1-e4. Epub 2020 Feb 22.

Three patients with facial port wine birthmarks were randomly assigned to receive treatment with topical timolol or the placebo. Three masked observers evaluated photographs of the patients, noting improvement in patients who were treated with timolol and two controls. The photographic technique was not standardized. Read More

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February 2020

Neuro-schistosomiasis with palm tree contrast enhancement pattern, a report of three cases, and review of literature.

BJR Case Rep 2021 Feb 8;7(1):20200053. Epub 2020 Oct 8.

Division Neuroradiology, Neuroscience Institute, Hamad Medical Corporation, Weill Cornell Medicine, Doha, Qatar.

We describe three cases of neuroschistosomiasis, two cases with cerebral schistosomiasis due to , with multiple pseudotumoral lesions presented with seizures and hemiparesis respectively, and a spinal cord conus medullaris schistosomiasis due to presented with conus medullaris syndrome. In the two cases with cerebral schistosomiasis imaging with CT revealed multiple areas of brain edema, and gyriform calcifications in both cerebral hemispheres, which suggested cerebral parasitemia, chronic venous hypertension, multifocal cerebral vascular malformation, or a forme fruste Sturge Weber syndrome. Further MRI revealed corresponding blooming, T2W (weighted) -FLAIR (fluid attenuated inversion recovery) ibright signal intensity and enhancing lesions. Read More

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February 2021

Surgical Management of Facial Port-Wine Stain in Sturge Weber Syndrome.

Cureus 2021 Jan 11;13(1):e12637. Epub 2021 Jan 11.

Plastic and Reconstructive Surgery, Nicklaus Children's Hospital, Miami, USA.

Sturge Weber Syndrome is characterized by the classic triad of a facial port-wine stain, leptomeningeal angiomatosis, and glaucoma. The resultant facial vascular anomaly can lead to soft tissue and bone irregularities, causing psychosocial distress and mental health morbidity. When severe, patients can opt for multi-staged surgical intervention by reconstructive surgeons to restore normal symmetry and improve the aesthetic appearance of the face. Read More

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January 2021

Sturge-Weber syndrome presenting in late adulthood.

BMJ Case Rep 2021 Feb 10;14(2). Epub 2021 Feb 10.

Neurology, Cardiff and Vale University Health Board, Cardiff, UK.

A 75-year-old woman presents to the acute medical take with confusion and headache following a road traffic accident. She had previously been fit and well, living alone with no assistance. Following multiple investigations, she was diagnosed with Sturge-Weber Syndrome, a rare neurocutaneous disorder that usually presents with seizures in childhood. Read More

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February 2021

Paediatric glaucoma in Hong Kong: a multicentre retrospective analysis of epidemiology, presentation, clinical interventions, and outcomes.

Hong Kong Med J 2021 Feb 4;27(1):18-26. Epub 2021 Feb 4.

Hong Kong Eye Hospital, Kowloon Central Cluster, Hospital Authority, Hong Kong.

Purpose: To document the epidemiology, presentation, clinical interventions, and outcomes of paediatric glaucoma in Hong Kong.

Methods: This multicentre territory-wide retrospective study was performed by reviewing charts of patients with paediatric glaucoma in six clusters of the Hong Kong Hospital Authority and The Chinese University of Hong Kong from 2006 to 2015.

Results: This study included 150 eyes of 98 patients with paediatric glaucoma (presenting age: 5. Read More

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February 2021

Biomimetic phantom with anatomical accuracy for evaluating brain volumetric measurements with magnetic resonance imaging.

J Med Imaging (Bellingham) 2021 Jan 29;8(1):013503. Epub 2021 Jan 29.

University of São Paulo, Department of Computing and Mathematics, Faculty of Philosophy, Science and Languages, Ribeirão Preto, São Paulo, Brazil.

Brain image volumetric measurements (BVM) methods have been used to quantify brain tissue volumes using magnetic resonance imaging (MRI) when investigating abnormalities. Although BVM methods are widely used, they need to be evaluated to quantify their reliability. Currently, the gold-standard reference to evaluate a BVM is usually manual labeling measurement. Read More

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January 2021

Facial hemihypertrophy in a girl with sturge-weber syndrome: Treatment with oral sirolimus.

Pediatr Dermatol 2021 Mar 29;38(2):469-471. Epub 2021 Jan 29.

Dermatology Department, Hospital Universitari Son Espases, Majorca, Spain.

In the last few years, the use of oral sirolimus has shown promising results in the treatment of some complex vascular anomalies, and recently, it has been used in patients with Sturge-Weber syndrome (SWS). We present the case of an 11-year-old girl with the diagnosis of SWS and hemifacial overgrowth treated with oral sirolimus. Throughout the eight months of follow-up, improvement of the port-wine birthmark, intraocular pressure, and neurocognitive development was noted. Read More

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[A case of adult-onset Sturge-Weber syndrome type III without intracranial calcification, presenting with transient homonymous hemianopia].

Rinsho Shinkeigaku 2021 Feb 26;61(2):132-135. Epub 2021 Jan 26.

Department of Neurology, Toyonaka Municipal Hospital.

Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder. Almost all cases of SWS are diagnosed in children, but some are diagnosed in adults. We describe a case of isolated leptomeningeal angiomatosis without intracranial calcification. Read More

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February 2021

Progressive retinal vessel malformation in a premature infant with Sturge-Weber syndrome: a case report and a literature review of ocular manifestations in Sturge-Weber syndrome.

BMC Ophthalmol 2021 Jan 22;21(1):56. Epub 2021 Jan 22.

Department of Ophthalmology, The 2nd Xiangya Hospital of Central South University, Changsha, Hunan, People's Republic of China.

Background: Sturge-Weber syndrome is a disorder marked by a distinctive facial capillary malformation, neurological abnormalities, and ocular abnormalities such as glaucoma and choroidal hemangioma.

Case Presentation: We report a case of progressively formed retinal vessel malformation in a premature male infant with Sturge-Weber syndrome and retinopathy of prematurity, after treatment with intravitreal anti-vascular endothelial growth factor (VEGF). The baby was born at 30 weeks gestation with a nevus flammeus involving his left eyelids and maxillary area. Read More

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January 2021

HYPERMETABOLISM ON PEDIATRIC POSITRON EMISSION TOMOGRAPHY SCANS OF BRAIN GLUCOSE METABOLISM: What does it signify?

Authors:
Harry T Chugani

J Nucl Med 2021 Jan 15. Epub 2021 Jan 15.

NYU LANGONE MEDICAL CENTER, United States.

When interpreting clinical 2-deoxy-2[F]fluoro-D-glucose positron emission tomography (FDG-PET) scans of the brain (excluding tumors), the typical abnormality is hypometabolism of various brain regions. Focal areas of hypermetabolism are noted occasionally and the usual interpretation is that the hypermetabolic region represents a seizure focus. In this review, we discuss and illustrate the multiple causes of hypermetabolism that should not be interpreted as seizure activity could potentially lead to an incorrect interpretation of FDG-PET studies. Read More

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January 2021

Sturge-Weber syndrome coexisting with polydactyly: a case report.

BMC Ophthalmol 2021 Jan 6;21(1). Epub 2021 Jan 6.

Joint Shantou International Eye Center of Shantou University and the Chinese University of Hong Kong, North Dongxia Road, Shantou, 515041, Guangdong, China.

Background: Sturge-Weber syndrome (SWS) is a sporadic congenital disorder, characterized by unilateral facial nevus flammeus associated with ipsilateral glaucoma, choroidal angioma and leptomeningeal hemangiomas. SWS can comorbid with other disorders in some patients, however, there has been no prior described case of SWS and polydactyly occurring in the same patient.

Case Presentation: A 15-year-old girl with diagnosis of SWS presented to our hospital. Read More

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January 2021

Sirolimus Treatment in Sturge-Weber Syndrome.

Pediatr Neurol 2021 02 2;115:29-40. Epub 2020 Nov 2.

Department of Neurology, Hugo Moser Kennedy Krieger Research Institute, Baltimore, Maryland; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland; Johns Hopkins Hospital, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland. Electronic address:

Background: Sturge-Weber syndrome is a rare neurovascular disorder associated with capillary malformation, seizures, cognitive impairments, and stroke-like episodes (SLEs), arising from a somatic activating mutation in GNAQ. Studies suggest this mutation may cause hyperactivation of the mammalian target of rapamycin pathway. Sirolimus is an mammalian target of rapamycin inhibitor studied in other vascular anomalies and a potentially promising therapy in Sturge-Weber syndrome. Read More

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February 2021

Choroidal alterations of Sturge-Weber syndrome secondary glaucoma and non-glaucoma port-wine stain patients distinguished by enhanced depth imaging optical coherence tomography.

BMC Ophthalmol 2020 Dec 7;20(1):477. Epub 2020 Dec 7.

Department of Ophthalmology, Ninth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, No. 639 Zhizaoju Road, Huangpu District, Shanghai, 200011, China.

Background: To evaluate the choroidal changes in Sturge-Weber syndrome (SWS) secondary glaucoma and non-glaucoma port-wine stain (PWS) patients by enhanced depth imaging optical coherence tomography (EDI-OCT).

Methods: SWS and PWS patients who were over 3 years old and treated or screened at our ophthalmology department were included in the study. Baseline demographics, EDI-OCT and fundus photography data were collected from all patients. Read More

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December 2020

Sturge Weber syndrome, when brain CT is enough for diagnosis: about a case.

Pan Afr Med J 2020 20;36:308. Epub 2020 Aug 20.

Radiology Department, National University Hospital Center Fann, Dakar, Senegal.

One of the main manifestations of Sturge Weber syndrome is seizures. We report the case of a child received in the context of generalized seizures and in whom a cerebral contrast CT was sufficient to make the diagnosis of Sturge Weber syndrome. Read More

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January 2021

Clinical profile and outcome of early surgery in neonatal-onset glaucoma presenting over a 5-year period.

Br J Ophthalmol 2020 Dec 2. Epub 2020 Dec 2.

Advanced Eye Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Background: Neonatal-onset glaucoma (NOG) is a severe form of childhood glaucoma and is not always due to primary congenital glaucoma (PCG). Due to advances in neonatal care, the incidence of NOG is rising, but it remains an under-reported entity. The objective of the paper was to study the clinical profiles, surgical and visual outcomes of NOG at least 1 year following early surgery. Read More

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December 2020

Failure of Goniosurgery for Glaucoma Associated With Sturge-Weber Syndrome.

J Pediatr Ophthalmol Strabismus 2020 Nov;57(6):384-387

Purpose: To report the surgical results of goniosurgery for children with glaucoma associated with Sturge-Weber syndrome.

Methods: Retrospective review of medical records of patients who had initial goniosurgery for glaucoma associated with Sturge-Weber syndrome.

Results: A total of 46 eyes of 42 patients who had glaucoma associated with Sturge-Weber syndrome and were treated with initial goniosurgery were identified to determine the efficacy of therapeutic goniotomy and trabeculotomy (goniosurgery). Read More

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November 2020