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Stroke Dec 2022Sturge-Weber syndrome (SWS) is a rare, noninherited neurovascular disorder characterized by abnormal vasculature in the brain, skin, and eye. Patients with SWS... (Review)
Review
Sturge-Weber syndrome (SWS) is a rare, noninherited neurovascular disorder characterized by abnormal vasculature in the brain, skin, and eye. Patients with SWS characteristically have facial capillary malformation, also known as port-wine birthmark, a leptomeningeal vascular malformation seen on contrast-enhanced magnetic resonance imaging images, abnormal blood vessels in the eye, and glaucoma. Patients with SWS have impaired perfusion to the brain and are at high risk of venous stroke and stroke-like episodes, seizures, and both motor and cognitive difficulties. While the activating R183Q somatic mutation is the most common somatic mutation underlying SWS, recent research also implicates that GNA11 and somatic mutations are related to SWS. Recent retrospective studies suggest the use of low-dose aspirin and vitamin D in treatment for SWS and prospective drug trials have supported the usefulness of cannabidiol and Sirolimus. Presymptomatic treatment with low-dose aspirin and antiepileptic drugs shows promising results in delaying seizure onset in some patients. This review focuses on the latest progress in the field of research for Sturge-Weber syndrome and highlights directions for future research.
Topics: Humans; Sturge-Weber Syndrome; Seizures; Brain; Stroke; Aspirin
PubMed: 36263782
DOI: 10.1161/STROKEAHA.122.038585 -
Actas Dermo-sifiliograficas Jun 2017Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in GNAQ; it affects 1 in every 20,000 to 50,000 newborns.... (Review)
Review
Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in GNAQ; it affects 1 in every 20,000 to 50,000 newborns. It is characterized by a facial Port-wine stain, leptomeningeal angiomatosis, and glaucoma. Seizures are the most common neurological manifestation and typically present in the first months of life. Glaucoma may be present at birth or develop later. Neuroimaging studies show leptomeningeal angiomatosis, supporting diagnosis. Standard treatment for Sturge-Weber syndrome includes laser treatment for the Port-wine stain, anticonvulsants, and medical or surgical treatment for the glaucoma. Prognosis depends on the extent of leptomeningeal involvement and the severity of the glaucoma.
Topics: Anticonvulsants; Brain Damage, Chronic; Early Diagnosis; GTP-Binding Protein alpha Subunits, Gq-G11; Glaucoma; Humans; Lasers, Dye; Meninges; Neuroimaging; Port-Wine Stain; Seizures; Sturge-Weber Syndrome; Veins
PubMed: 28126187
DOI: 10.1016/j.ad.2016.09.022 -
Pediatric Neurology Aug 2021Sturge-Weber syndrome (SWS) is a sporadic, neurocutaneous syndrome involving the skin, brain, and eyes. Because of the variability of the clinical manifestations and the...
BACKGROUND
Sturge-Weber syndrome (SWS) is a sporadic, neurocutaneous syndrome involving the skin, brain, and eyes. Because of the variability of the clinical manifestations and the lack of prospective studies, consensus recommendations for management and treatment of SWS have not been published.
OBJECTIVE
This article consolidates the current literature with expert opinion to make recommendations to guide the neuroimaging evaluation and the management of the neurological and ophthalmologic features of SWS.
METHODS
Thirteen national peer-recognized experts in neurology, radiology, and ophthalmology with experience treating patients with SWS were assembled. Key topics and questions were formulated for each group and included (1) risk stratification, (2) indications for referral, and (3) optimum treatment strategies. An extensive PubMed search was performed of English language articles published in 2008 to 2018, as well as recent studies identified by the expert panel. The panel made clinical practice recommendations.
CONCLUSIONS
Children with a high-risk facial port-wine birthmark (PWB) should be referred to a pediatric neurologist and a pediatric ophthalmologist for baseline evaluation and periodic follow-up. In newborns and infants with a high-risk PWB and no history of seizures or neurological symptoms, routine screening for brain involvement is not recommended, but brain imaging can be performed in select cases. Routine follow-up neuroimaging is not recommended in children with SWS and stable neurocognitive symptoms. The treatment of ophthalmologic complications, such as glaucoma, differs based on the age and clinical presentation of the patient. These recommendations will help facilitate coordinated care for patients with SWS and may improve patient outcomes.
Topics: Child; Child, Preschool; Congresses as Topic; Consensus; Glaucoma; Humans; Infant; Infant, Newborn; Neuroimaging; Neurology; Ophthalmology; Port-Wine Stain; Practice Guidelines as Topic; Seizures; Sturge-Weber Syndrome
PubMed: 34153815
DOI: 10.1016/j.pediatrneurol.2021.04.013 -
Therapeutische Umschau. Revue... 2023
Topics: Humans; Low Back Pain
PubMed: 37122184
DOI: 10.1024/0040-5930/a001430 -
Frontiers in Sociology 2022This paper explores "what more and what else" MacIntyre's concepts can contribute, specifically as applied to neoinstitutional theory and especially institutional...
This paper explores "what more and what else" MacIntyre's concepts can contribute, specifically as applied to neoinstitutional theory and especially institutional logics. Drawing on the common influence of Max Weber's work as further developed by Friedland, MacIntyre's concept of being furthered by the pursuit of internal goods supported by external goods is used to develop a typology of goods. This typology is then deployed to show how the differing institutional logics of, for example, the market and the family have differing rationalities with differing emphases on internal and external goods, and consequently differing moral content. A simple picture of the market economy is then developed to show how such MacIntyrean concepts can be used to address the critique of a lack of morality in neoinstitutional theory. Conversely, the analytical framework provided by the institutional logics perspective is used to show how MacIntyrean concepts can be applied practically in a way that provides an interesting perspective on the current world.
PubMed: 36386854
DOI: 10.3389/fsoc.2022.983190 -
Journal of Pharmacy & Bioallied Sciences Nov 2021Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome characterized by capillary venous malformations in the skin, eye, and brain with the occurrence of angiomas of...
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.
PubMed: 35018074
DOI: 10.4103/jpbs.jpbs_354_21 -
Pediatric Neurology Feb 2021Sturge-Weber syndrome is a rare neurovascular disorder associated with capillary malformation, seizures, cognitive impairments, and stroke-like episodes (SLEs), arising...
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.
METHODS
Ten patients with Sturge-Weber syndrome brain involvement and cognitive impairments were enrolled. Oral sirolimus was taken for six months (maximum dose: 2 mg/day, target trough level: 4-6 ng/mL). Neuropsychological testing, electroencephalography, and port-wine score were performed at baseline and after six months on sirolimus. Neuroquality of life, adverse events, and Sturge-Weber Syndrome Neurological Score (neuroscore) were recorded at each visit.
RESULTS
Sirolimus was generally well tolerated; one subject withdrew early. Adverse events considered related to sirolimus were mostly (15/16) grade 1. A significant increase in processing speed was seen in the overall group (P = 0.031); five of nine patients with available data demonstrated statistically rare improvement in processing speed. Improvements were seen in the neuroquality of life subscales measuring anger (P = 0.011), cognitive function (P = 0.015), and depression (P = 0.046). Three subjects experiencing SLEs before and during the study reported shortened recovery times while on sirolimus.
CONCLUSIONS
Sirolimus was well tolerated in individuals with Sturge-Weber syndrome and may be beneficial for cognitive impairments, especially in patients with impaired processing speed or a history of SLE. A future, randomized, placebo-controlled trial of sirolimus in patients with Sturge-Weber syndrome is needed to further understand these potentially beneficial effects.
Topics: Adolescent; Adult; Child; Child, Preschool; Cognitive Dysfunction; Electroencephalography; Female; Humans; Male; Protein Kinase Inhibitors; Sirolimus; Sturge-Weber Syndrome; Young Adult
PubMed: 33316689
DOI: 10.1016/j.pediatrneurol.2020.10.013 -
Perception 1995
Topics: Germany; History, 19th Century; Humans; Neurophysiology; Psychophysics
PubMed: 7478901
DOI: 10.1068/p240599