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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 -
The Application of Clinical Genetics 2023Sturge-Weber syndrome (SWS) is a congenital, sporadic, and rare neurocutaneous disorder, characterized by the presence of a facial port-wine birthmark (PWB), glaucoma,... (Review)
Review
Sturge-Weber syndrome (SWS) is a congenital, sporadic, and rare neurocutaneous disorder, characterized by the presence of a facial port-wine birthmark (PWB), glaucoma, and neurological manifestations including leptomeningeal angiomatosis and seizures. It is caused by a postzygotic, somatic, gain-of-function variant of the gene, and more recently, the gene in association with distinctive clinical features. Neuroimaging can help identify and stratify patients at risk for significant complications allowing closer follow-up; although no presymptomatic treatment has been demonstrated to be effective to date, these patients could benefit from early treatment and/or supportive interventions. Choroid plexus (CP) thickness measurements in brain magnetic resonance imaging (MRI) have a high sensitivity and specificity for early and incipient changes in SWS. In contrast, the absence of pathologic findings makes it possible to rule out associated neurological involvement and leads to periodical observation, with new imaging studies only in cases of new clinical signs/symptoms. Periodic ophthalmological examination is also recommended every 3 months during the first year and yearly afterwards to monitor for glaucoma and choroidal hemangiomas. Treatment for SWS depends on the extent and areas that are affected. These include laser surgery for PWB, anticonvulsants in the case of brain involvement, with either seizures or abnormal EEG, and medical treatment or surgery for glaucoma. Sirolimus has been used in a limited number of patients and appears to be a safe and potentially effective treatment for cutaneous and extra-cutaneous features, however controlled clinical studies have not been carried out. Better knowledge of molecular pathways will help to develop future targeted treatments.
PubMed: 37124240
DOI: 10.2147/TACG.S363685 -
JAMA Dermatology Jan 2021Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome involving the skin, brain, and eyes. Consensus recommendations for management are lacking. (Review)
Review
IMPORTANCE
Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome involving the skin, brain, and eyes. Consensus recommendations for management are lacking.
OBJECTIVE
To consolidate the current literature with expert opinion to make recommendations that will guide treatment and referral for patients with port-wine birthmarks (PWBs).
EVIDENCE REVIEW
In this consensus statement, 12 nationally peer-recognized experts in dermatology with experience treating patients with SWS were assembled. Key topics and questions were formulated for each group and included risk stratification, optimum treatment strategies, and recommendations regarding light-based therapies. A systematic PubMed search was performed of English-language articles published between December 1, 2008, and December 1, 2018, as well as other pertinent studies identified by the expert panel. Clinical practice guidelines were recommended.
FINDINGS
Treatment of PWBs is indicated to minimize the psychosocial impact and diminish nodularity and potentially tissue hypertrophy. Better outcomes may be attained if treatments are started at an earlier age. In the US, pulsed dye laser is the standard for all PWBs regardless of the lesion size, location, or color. When performed by experienced physicians, laser treatment can be safe for patients of all ages. The choice of using general anesthesia in young patients is a complex decision that must be considered on a case-by-case basis.
CONCLUSIONS AND RELEVANCE
These recommendations are intended to help guide clinical practice and decision-making for patients with SWS and those with isolated PWBs and may improve patient outcomes.
Topics: Clinical Decision-Making; Consensus; Dermatology; Humans; Lasers, Dye; Low-Level Light Therapy; Port-Wine Stain; Practice Guidelines as Topic; Sturge-Weber Syndrome; Treatment Outcome
PubMed: 33175124
DOI: 10.1001/jamadermatol.2020.4226 -
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 -
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 -
The Medical Journal of Malaysia Mar 2023Sturge-Weber syndrome (SWS) is a congenital syndrome characterised by intellectual disability, glaucoma, a characteristic port-wine stain on the skin around the route of...
INTRODUCTION
Sturge-Weber syndrome (SWS) is a congenital syndrome characterised by intellectual disability, glaucoma, a characteristic port-wine stain on the skin around the route of the ophthalmic branch of the trigeminal nerve and the affection of the leptomeninges in the brain in the form of abnormal capillary venous vessels. The aim of this study is to look at the clinical features as well as the correlation of SWS with other comorbidities in hospitalised children.
MATERIALS AND METHODS
Records of admitted children over the period 2000-2019 were retrospectively studied. Epidemiological variables, gender and age at the time of diagnosis, changes in the skin, central nervous system affection and ophthalmological changes were analysed and recorded.
RESULTS
Eleven cases of SWS were identified and included in the study. Age at the time of diagnosis ranged from 1 to 36 months. EEG showed specific grapho-elements, with partial seizures presenting in five cases out eight total cases with epilepsy. Ophthalmological complications were common, with glaucoma and choroidal haemangioma being the most common. Cognitive problems were found in seven cases, headache in eight cases and hemiparesis in four.
CONCLUSION
SWS is associated with other medical conditions. The study has described some of the features of SWS and found its correlation with epilepsy and other neurological problems, glaucoma, headache, hemiparesis and cognitive problems.
Topics: Child; Humans; Infant; Child, Preschool; Sturge-Weber Syndrome; Retrospective Studies; Glaucoma; Epilepsy; Paresis; Headache
PubMed: 36988522
DOI: No ID Found -
The New England Journal of Medicine Aug 2017
Topics: Brain; Child; Female; Humans; Magnetic Resonance Imaging; Meninges; Sturge-Weber Syndrome
PubMed: 28854093
DOI: 10.1056/NEJMicm1700538 -
Current Treatment Options in Neurology Oct 2013We try to see the babies prior to the onset of symptoms so that their parents can receive anticipatory guidance regarding seizures and how to recognize and respond to...
We try to see the babies prior to the onset of symptoms so that their parents can receive anticipatory guidance regarding seizures and how to recognize and respond to them and so that proper referrals to ophthalmology can be made. If there is any concern on history, exam, or EEG then we obtain a magnetic resonance imaging (MRI) with contrast. If presymptomatic diagnosis of brain involvement is made then treatment with low-dose aspirin is offered and if the brain involvement is extensively bilateral then an anticonvulsant such as levetiracetam is offered as well. Seizures are treated aggressively with a goal of obtaining and maintaining complete seizure suppression as much as possible often with a combination of low-dose aspirin and two anticonvulsants such as levetiracetam and oxcarbazepine. For many patients, this will provide adequate control of their seizures and stroke-like episodes. If the patient fails medical management and seizures are regular and accompanied by plateaued development, significant hemiparesis and visual field deficit and the patient is unilaterally involved and a surgical candidate then surgical management is urged. When the seizures are less regular, little or no hemiparesis or visual field deficit exist, and development is reasonable then this decision is more difficult. For bilaterally involved patients surgery is usually not a good option unless seizures are very severe and mostly coming from one side. Other therapeutic options include the ketogenic/Atkins diet and vagal nerve stimulator although in our experience these usually do not result in cessation of seizures. Endocrine problems occur with increased frequency and must be treated when they are present. The recent discovery of the somatic mutation causing Sturge-Weber syndrome holds promise for new treatment options in the future.
PubMed: 23907585
DOI: 10.1007/s11940-013-0253-6