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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 -
Handbook of Clinical Neurology 2015Sturge-Weber syndrome is the third most common neurocutaneous disorder, after neurofibromatosis and tuberous sclerosis, and impacts approximately 1 in 20000 live births.... (Review)
Review
Sturge-Weber syndrome is the third most common neurocutaneous disorder, after neurofibromatosis and tuberous sclerosis, and impacts approximately 1 in 20000 live births. Sturge-Weber syndrome is not inherited, but rather occurs exclusively sporadically, in both males and females and in all races and ethnic backgrounds. Sturge-Weber syndrome presents at birth with a capillary malformation on the face (port-wine birthmark) with later diagnosis of abnormal vasculature in the eye and the brain which result in a range of complications. The underlying somatic mosaic mutation causing both Sturge-Weber syndrome and isolated port-wine birthmarks was recently discovered and is an activating mutation in GNAQ. When a newborn presents with a facial port-wine birthmark on the upper face, that child has a 15-50% risk of developing Sturge-Weber syndrome brain and/or eye involvement, depending on the extent of the birthmark, and close monitoring and appropriate screening is essential for early diagnosis and optimal treatment. Treatment options include laser therapy for lightening of the birthmark, eye drops and surgery for glaucoma management, and aggressive anticonvulsant treatment, low dose aspirin, and neurosurgery where necessary. Future possible treatments based upon new knowledge of the somatic mutation and downstream pathways are currently being considered and studied.
Topics: Female; GTP-Binding Protein alpha Subunits, Gq-G11; Humans; Male; Mutation; Sturge-Weber Syndrome
PubMed: 26564078
DOI: 10.1016/B978-0-444-62702-5.00011-1 -
World Journal of Pediatrics : WJP May 2024Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by the simultaneous presence of both cutaneous and extracutaneous capillary... (Review)
Review
BACKGROUND
Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by the simultaneous presence of both cutaneous and extracutaneous capillary malformations. SWS usually presents as a facial port-wine birthmark, with a varying presence of leptomeningeal capillary malformations and ocular vascular abnormalities. The latter may lead to significant neurological and ocular morbidity such as epilepsy and glaucoma. SWS is most often caused by a somatic mutation involving the G protein subunit alpha Q or G protein subunit alpha 11 gene causing various alterations in downstream signaling pathways. We specifically conducted a comprehensive review focusing on the current knowledge of clinical practices, the latest pathophysiological insights, and the potential novel therapeutic avenues they provide.
DATA SOURCES
A narrative, non-systematic review of the literature was conducted, combining expert opinion with a balanced review of the available literature. A search of PubMed, Google Scholar and Embase was conducted, using keywords "Sturge-Weber Syndrome" OR "SWS", "Capillary malformations", "G protein subunit alpha 11" OR "G protein subunit alpha Q".
RESULTS
One of the hallmark features of SWS is the presence of a port-wine birthmark at birth, and forehead involvement is most indicative for SWS. The most common ocular manifestations of SWS are glaucoma and choroidal hemangioma. Glaucoma presents in either in infancy (0-3 years of age) or later in life. Neurological complications are common in SWS, occurring in about 70%-80% of patients, with seizures being the most common one. SWS significantly impacts the quality of life for patients and their families, and requires a multidisciplinary approach for diagnosis and treatment. Currently, no disease-modifying therapies exist, and treatment is mostly focused on symptoms or complications as they arise. CONCLUSIONS: SWS remains a complex and heterogeneous disorder. Further research is needed to optimize diagnostic and therapeutic strategies, and to translate insights from molecular pathogenesis to clinical practice.
Topics: Sturge-Weber Syndrome; Humans; Child
PubMed: 38658498
DOI: 10.1007/s12519-024-00809-y -
QJM : Monthly Journal of the... Apr 2019
Topics: Calcinosis; Cerebrum; GTP-Binding Protein alpha Subunits, Gq-G11; Humans; Male; Middle Aged; Mutation; Seizures; Sturge-Weber Syndrome
PubMed: 30357409
DOI: 10.1093/qjmed/hcy246 -
Seminars in Cutaneous Medicine and... Jun 2004Sturge-Weber syndrome is a sporadic neurocutaneous disease characterized by facial port-wine stain, ocular abnormalities (glaucoma and choroidal hemangioma) and... (Review)
Review
Sturge-Weber syndrome is a sporadic neurocutaneous disease characterized by facial port-wine stain, ocular abnormalities (glaucoma and choroidal hemangioma) and leptomeningeal angioma. Although the precise pathogenesis is unknown, available data regarding genetics, embryogenesis, and pathologic features are briefly reviewed. Clinical features vary from mild incomplete forms to full-blown disease with facial stain, seizures, and glaucoma. Frequencies of associated complications are reviewed. To plan treatment and further follow-up, diagnosis of glaucoma and intracranial involvement, even if asymptomatic, is fundamental in children at risk. Early neuroimaging features are important to recognize. Management of patients with Sturge-Weber syndrome is focused on treating associated neurologic and ocular abnormalities.
Topics: Electroencephalography; Epilepsy; Humans; Magnetic Resonance Imaging; Sturge-Weber Syndrome
PubMed: 15295918
DOI: 10.1016/j.sder.2004.01.002 -
Pediatrics in Review Sep 2022Sturge-Weber syndrome (SWS) is a neurocutaneous disorder that classically presents with a triad of vascular anomalies affecting the skin, eyes, and brain. Previously,... (Review)
Review
Sturge-Weber syndrome (SWS) is a neurocutaneous disorder that classically presents with a triad of vascular anomalies affecting the skin, eyes, and brain. Previously, the trigeminal nerve distribution of a port-wine birthmark (PWB) of the face was used to identify risk of SWS. However, recent evidence has demonstrated that PWBs are vascular, not neurologic, in embryologic origin, and facial PWBs at highest risk for the brain involvement of SWS involve the forehead location. Furthermore, a PWB involving the upper or lower eyelid carries a risk of glaucoma, which requires lifelong monitoring. The gold standard of treatment for PWB is the pulsed dye laser, which has many advantages when started as early as possible in infancy. In this review, we discuss the locations of facial PWBs at risk for neurologic and ophthalmologic complications, the differential diagnosis of facial vascular birthmarks, recommendations for patient referral(s) when needed, and the advantages of early laser therapy when desired for the PWB. We also provide additional resources for pediatricians to support patients and their families.
Topics: Brain; Glaucoma; Humans; Port-Wine Stain; Risk Assessment; Sturge-Weber Syndrome
PubMed: 36045161
DOI: 10.1542/pir.2021-005437 -
European Journal of Paediatric... May 2014Sturge-Weber syndrome is a rare sporadic neurocutaneous syndrome the hallmark of which is a facial port-wine stain involving the first division of the trigeminal nerve,... (Review)
Review
Sturge-Weber syndrome is a rare sporadic neurocutaneous syndrome the hallmark of which is a facial port-wine stain involving the first division of the trigeminal nerve, ipsilateral leptomeningeal angiomata and angioma involving the ipsilateral eye. Our understanding of the disease process has vastly improved since it was first described in 1879, with recent identification of an activating somatic mutation in the GNAQ gene found in association with both Sturge-Weber syndrome and non-syndromic facial port-wine stain. Sturge-Weber syndrome is marked by a variable but usually progressive course in early childhood characterised by seizures, stroke-like episodes, headaches, neurological and cognitive deterioration, hemiparesis, glaucoma and visual field defects. More recently, the increased prevalance of otolaryngological, endocrine and emotional-behavioural issues have been established. Neurophysiology and neuroimaging studies provide information regarding the evolution of changes in Sturge-Weber syndrome over time. Early recognition and aggressive management of symptoms remains cornerstone in the management of this syndrome. An international collaborative effort is needed to maximise our understanding of the natural history and response to interventions in Sturge-Weber Syndrome.
Topics: Brain; Headache; Humans; Neurocutaneous Syndromes; Port-Wine Stain; Seizures; Sturge-Weber Syndrome
PubMed: 24275166
DOI: 10.1016/j.ejpn.2013.10.003 -
Child's Nervous System : ChNS :... Aug 2006Sturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome the main clinical features of which are facial, mostly unilateral nevi, leptomeningeal angiomatosis, and... (Review)
Review
INTRODUCTION
Sturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome the main clinical features of which are facial, mostly unilateral nevi, leptomeningeal angiomatosis, and congenital glaucoma. The interest of this syndrome for pediatric neurosurgeons is mainly related to the association of SWS with epilepsy in 75-90% of the cases. Seizures are resistant to medical treatment in almost 60% of these patients that consequently should be evaluated for epilepsy surgery.
INDICATIONS TO SURGICAL TREATMENT
Children with SWS and drug-resistant epilepsy are optimal candidates for disconnective or resective surgical procedures in terms of both seizure control and intellectual outcomes. Controversies, however, still exist between the advantages of early "prophylactic" operation vs later surgical interventions. Though better results in terms of seizures control and psychomotor development were reported in a limited series of children operated on early in life, the insufficient number of subjects who underwent the surgical treatment does not allow definite conclusions yet.
NEUROSURGICAL TECHNIQUES
Visually guided lobectomy with complete excision of the angiomatous cortex should be considered as the primary surgical procedure in patients with focal lesions. Hemispherectomy is the treatment of choice in children with extensive hemispheric lesions.
Topics: Diagnostic Imaging; Electroencephalography; Humans; Neurosurgical Procedures; Sturge-Weber Syndrome
PubMed: 16823586
DOI: 10.1007/s00381-006-0143-2 -
Child's Nervous System : ChNS :... Oct 2020Sturge-Weber syndrome (SWS) is a neurocutaneous facomatosis characterized by facial and leptomeningeal angioma, glaucoma, seizures, and neurological disability.... (Review)
Review
PURPOSE
Sturge-Weber syndrome (SWS) is a neurocutaneous facomatosis characterized by facial and leptomeningeal angioma, glaucoma, seizures, and neurological disability. Therefore, a challenging multidisciplinary interaction is required for its management. The goal of this paper is to review the main aspects of SWS and to present an illustrative pediatric series.
METHODS
The pertinent literature has been analyzed, focused mainly on etiopathogenesis, pathology, clinical features, diagnostic tools, management, and outcome of the disease. Moreover, a series of 11 children operated on for refractory epilepsy between 2005 and 2015 (minimum follow-up 5 years, mean follow-up 9.6 years) is reported. The series consists of six boys and five girls with 6.5-month and 16.2-month mean age at seizure onset and at surgery, respectively. Seizures affected all children, followed by hemiparesis and psychomotor delay (81%), glaucoma (54%), and other neurological deficits (45%).
RESULTS
All children underwent hemispherectomy (anatomical in three cases, functional in two cases, hemispherotomy in six cases); one patient needed a redo hemispherotomy. Mortality was nil; disseminated intravascular coagulation and interstitial pneumonia occurred in one patient each; three children had subdural fluid collection. Eight patients (72%) are in the ILAE Class 1 (completely seizure and aura free), two in Class 2 (only auras, no seizure), and one in Class 3 (1-3 seizure days per year). AEDs discontinuation was possible in 73% of cases. The most important news from the literature concerned the pathogenesis (role of the mutation of the GNAQ gene in the abnormal SWS vasculogenesis), the clinical findings (the features and pathogenesis of the stroke-like episodes are being understood), the diagnostic tools (quantitative MRI and EEG), and both the medical (migraine, seizures) and surgical management (epilepsy). The epileptic outcome of SWS patients is very good (80% are seizure-free), if compared with other hemispheric syndromes. The quality of life is affected by the neurological and cognitive deficits.
CONCLUSIONS
SWS still is an etiological and clinical challenge. However, the improvements over the time are consistent. In particular, the neurosurgical treatment of refractory epilepsy provides very good results as long as the indication to treatment is correct.
Topics: Child; Epilepsy; Female; Humans; Male; Neurosurgeons; Quality of Life; Seizures; Sturge-Weber Syndrome
PubMed: 32564157
DOI: 10.1007/s00381-020-04695-3