{"id":12974,"date":"2024-08-23T07:20:57","date_gmt":"2024-08-23T05:20:57","guid":{"rendered":"https:\/\/valintermed.com\/?p=12974"},"modified":"2024-08-23T07:20:57","modified_gmt":"2024-08-23T05:20:57","slug":"sindrom-sterdzha-vebera","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/sterdzha-vebera-syndrome\/","title":{"rendered":"Sturge-Weber syndrome"},"content":{"rendered":"<div class=\"fpm_start\"><\/div>\n<p>Sturge-Weber syndrome (SWS) is a rare congenital disorder characterized by a combination of vascular, neurological, and skin abnormalities. The disorder is associated with a venous malformation, which is often localized to the face and may affect the development of certain brain structures. The syndrome is accompanied by neurological manifestations, including seizures, cognitive impairment, and hemiparesis. The main manifestation of SWS is a blue-violet nevus, which is usually located in the forehead and temple. In addition to skin changes, patients may have an increased risk of comorbidities such as glaucoma, as well as neurological disorders.<\/p>\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-flat ez-toc-counter ez-toc-light-blue ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">Content<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewbox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" 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href=\"https:\/\/valintermed.com\/en\/medlibrary\/sterdzha-vebera-syndrome\/#%D0%98%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F_%D0%B8_%D0%B8%D0%BD%D1%82%D0%B5%D1%80%D0%B5%D1%81%D0%BD%D1%8B%D0%B5_%D0%B8%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B8%D0%B5_%D1%84%D0%B0%D0%BA%D1%82%D1%8B\" >History of the disease and interesting historical facts<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/sterdzha-vebera-syndrome\/#%D0%AD%D0%BF%D0%B8%D0%B4%D0%B5%D0%BC%D0%B8%D0%BE%D0%BB%D0%BE%D0%B3%D0%B8%D1%8F\" >Epidemiology<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/sterdzha-vebera-syndrome\/#%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%BF%D1%80%D0%B5%D0%B4%D1%80%D0%B0%D1%81%D0%BF%D0%BE%D0%BB%D0%BE%D0%B6%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D1%8C_%D0%BA_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%BC%D1%83_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8E\" >Genetic predisposition to this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/sterdzha-vebera-syndrome\/#%D0%A4%D0%B0%D0%BA%D1%82%D0%BE%D1%80%D1%8B_%D1%80%D0%B8%D1%81%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Risk factors for the development of this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/sterdzha-vebera-syndrome\/#%D0%94%D0%B8%D0%B0%D0%B3%D0%BD%D0%BE%D1%81%D1%82%D0%B8%D0%BA%D0%B0_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Diagnosis of this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/sterdzha-vebera-syndrome\/#%D0%9B%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D0%B5\" >Treatment<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/sterdzha-vebera-syndrome\/#%D0%A1%D0%BF%D0%B8%D1%81%D0%BE%D0%BA_%D0%BB%D0%B5%D0%BA%D0%B0%D1%80%D1%81%D1%82%D0%B2_%D0%BF%D1%80%D0%B8%D0%BC%D0%B5%D0%BD%D1%8F%D0%B5%D0%BC%D1%8B%D1%85_%D0%B4%D0%BB%D1%8F_%D0%BB%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >List of medications used to treat this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/sterdzha-vebera-syndrome\/#%D0%9C%D0%BE%D0%BD%D0%B8%D1%82%D0%BE%D1%80%D0%B8%D0%BD%D0%B3_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Disease monitoring<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/sterdzha-vebera-syndrome\/#%D0%92%D0%BE%D0%B7%D1%80%D0%B0%D1%81%D1%82%D0%BD%D1%8B%D0%B5_%D0%BE%D1%81%D0%BE%D0%B1%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D0%B8_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Age-related features of the disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/sterdzha-vebera-syndrome\/#%D0%92%D0%BE%D0%BF%D1%80%D0%BE%D1%81%D1%8B_%D0%B8_%D0%BE%D1%82%D0%B2%D0%B5%D1%82%D1%8B\" >Questions and Answers<\/a><\/li><\/ul><\/nav><\/div>\n<h2><span class=\"ez-toc-section\" id=\"%D0%98%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F_%D0%B8_%D0%B8%D0%BD%D1%82%D0%B5%D1%80%D0%B5%D1%81%D0%BD%D1%8B%D0%B5_%D0%B8%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B8%D0%B5_%D1%84%D0%B0%D0%BA%D1%82%D1%8B\"><\/span>History of the disease and interesting historical facts<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Sturge-Weber syndrome was first described in 1920 by two physicians: Englishman William Sturge and American Frank Weber, who independently came to similar conclusions. Both physicians noted a connection between skin angiomas and neurological symptoms, which allowed the systematic study of this disease to begin. Interestingly, the syndrome was initially known by names related to its neurological manifestations, but later its name was changed in honor of the two original researchers. Over time, the number of cases recorded in the medical literature increased, which indicated the importance of clinical diagnosis and understanding the mechanism of occurrence of this syndrome.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%AD%D0%BF%D0%B8%D0%B4%D0%B5%D0%BC%D0%B8%D0%BE%D0%BB%D0%BE%D0%B3%D0%B8%D1%8F\"><\/span>Epidemiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Sturge-Weber syndrome is a rare disorder with an incidence of 1 in 20,000 to 50,000 births in Population Studies. The disorder occurs in patients of all races and ethnicities, although there is a slight male predominance. Periodic reports of increasing cases suggest that improved diagnostic techniques are leading to an increase in diagnosis. However, it is important to note that detection rates may vary by region and access to care, highlighting the need for further research to better understand the true epidemiology.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%BF%D1%80%D0%B5%D0%B4%D1%80%D0%B0%D1%81%D0%BF%D0%BE%D0%BB%D0%BE%D0%B6%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D1%8C_%D0%BA_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%BC%D1%83_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8E\"><\/span>Genetic predisposition to this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The etiology of Sturge-Weber syndrome remains poorly understood, but there is evidence that the disorder is associated with the GNAQ gene. In most cases, the syndrome occurs spontaneously, but there is an assumption about the inheritance of predisposition. The main mechanisms leading to the development of anomalies are associated with disturbances in the vascular bed at the early stages of embryogenesis, especially during cell differentiation. Studies have shown that mutations in the GNAQ gene, which is responsible for cell signaling, may be associated with the development of angiomatous changes. This circumstance suggests that in some cases, genetic factors may play a role in the pathogenesis of the syndrome and thereby increase the risk of its development in offspring.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%A4%D0%B0%D0%BA%D1%82%D0%BE%D1%80%D1%8B_%D1%80%D0%B8%D1%81%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Risk factors for the development of this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Risk factors that contribute to the development of Sturge-Weber syndrome include:<\/p>\n<ul>\n<li>Spontaneous genetic mutations;<\/li>\n<li>Environmental factors such as exposure to chemicals early in pregnancy;<\/li>\n<li>History of cases of the disease in relatives (although the hereditary mechanism has not been established);<\/li>\n<li>Pregnancy abnormalities, such as early or late abortions, which may be associated with vascular disorders.<\/li>\n<\/ul>\n<p>Chemical factors, such as fetal exposure to toxic substances, can interfere with the normal development of the vascular system, which in turn threatens the development of the abnormalities characteristic of the syndrome.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%94%D0%B8%D0%B0%D0%B3%D0%BD%D0%BE%D1%81%D1%82%D0%B8%D0%BA%D0%B0_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Diagnosis of this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The diagnosis of Sturge-Weber syndrome is based on a combination of clinical and radiographic methods. The main symptoms include:<\/p>\n<ul>\n<li>Nevus on the face (angioma);<\/li>\n<li>Convulsions that begin in childhood;<\/li>\n<li>Cognitive and motor impairment;<\/li>\n<li>Glaucoma or other eye disorders.<\/li>\n<\/ul>\n<p>Laboratory tests are not highly specific for this disease, but can help to exclude other pathologies. Radiological studies such as MRI are key to diagnosis. They allow visualization of venous malformations and changes in the cerebral cortex. Disorders such as neurofibromatosis or other vascular anomalies should be considered for differential diagnosis.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%9B%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D0%B5\"><\/span>Treatment<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Treatment of Sturge-Weber syndrome should be individualized and multifunctional, and depending on the manifestations of the disease, it can be medicinal or surgical. The main approaches to treatment include:<\/p><script data-noptimize=\"\" data-wpfc-render=\"false\">\nfpm_start( \"true\" );\n<\/script>\n\n<ul>\n<li>General treatment: symptom control, support and rehabilitation;<\/li>\n<li>Pharmacological treatment: anticonvulsants to control seizures;<\/li>\n<li>Surgical treatment: possible removal of affected areas to reduce the possibility of further neuropathology;<\/li>\n<li>Orthopedic and speech therapy rehabilitation to improve function.<\/li>\n<\/ul>\n<p>The medical approach must be multidisciplinary and take into account the patient&#039;s condition.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%A1%D0%BF%D0%B8%D1%81%D0%BE%D0%BA_%D0%BB%D0%B5%D0%BA%D0%B0%D1%80%D1%81%D1%82%D0%B2_%D0%BF%D1%80%D0%B8%D0%BC%D0%B5%D0%BD%D1%8F%D0%B5%D0%BC%D1%8B%D1%85_%D0%B4%D0%BB%D1%8F_%D0%BB%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>List of medications used to treat this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The following classes of medications are used to manage the symptoms of Sturge-Weber syndrome:<\/p>\n<ul>\n<li>Anticonvulsants (lamotrigine, valproic acid);<\/li>\n<li>Statins to counteract comorbid symptoms;<\/li>\n<li>Glaucoma control medications (such as beta blockers);<\/li>\n<li>Brain dysfunction can be corrected with the help of neuroprotective agents (for example, piracetam).<\/li>\n<\/ul>\n<p>These drugs help control the main clinical manifestations of the syndrome.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%9C%D0%BE%D0%BD%D0%B8%D1%82%D0%BE%D1%80%D0%B8%D0%BD%D0%B3_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Disease monitoring<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Monitoring of the patient with Sturge-Weber syndrome includes regular examinations to monitor the dynamics of neurological and cognitive functions. The prognosis depends on the severity of neurological involvement and the success of the treatment. Possible complications include:<\/p>\n<ul>\n<li>Progression of seizures;<\/li>\n<li>Cognitive disorders;<\/li>\n<li>Vision problems such as glaucoma;<\/li>\n<li>Psychological problems, including depression.<\/li>\n<\/ul>\n<p>Regular neurological examinations and eye monitoring are key to maintaining health.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%92%D0%BE%D0%B7%D1%80%D0%B0%D1%81%D1%82%D0%BD%D1%8B%D0%B5_%D0%BE%D1%81%D0%BE%D0%B1%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D0%B8_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Age-related features of the disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Sturge-Weber syndrome can present differently depending on the age of the patient. Newborns and children may have more severe neurological impairment, while adults often have a more stable clinical picture with less severe cognitive impairment. Different age groups require specific approaches to diagnosis and treatment to tailor the methods to the current condition and needs of the patient.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%92%D0%BE%D0%BF%D1%80%D0%BE%D1%81%D1%8B_%D0%B8_%D0%BE%D1%82%D0%B2%D0%B5%D1%82%D1%8B\"><\/span>Questions and Answers<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<ul>\n<li><strong>What are the main symptoms of Sturge-Weber syndrome?<\/strong> The main symptoms include facial angioma, seizures, cognitive and motor impairment.<\/li>\n<li><strong>How is Sturge-Weber syndrome diagnosed?<\/strong> Diagnosis is based on clinical examination, MRI and exclusion of other disorders.<\/li>\n<li><strong>At what age does the syndrome most often appear?<\/strong> Symptoms usually begin to appear in childhood, usually before 2 years of age.<\/li>\n<li><strong>How is Sturge-Weber syndrome treated?<\/strong> Treatment includes medication to control seizures and surgery if necessary.<\/li>\n<li><strong>What is the prognosis for patients with Sturge-Weber syndrome?<\/strong> Prognosis varies; with adequate therapy, many patients can lead a normal life, especially if therapy is started early.<\/li>\n<\/ul>\n<p>Thus, understanding Sturge-Weber syndrome requires a comprehensive approach, including diagnosis, treatment and long-term monitoring of the patient, taking into account his individual characteristics.<\/p>\n<div class=\"fpm_end\"><\/div>","protected":false},"excerpt":{"rendered":"<p>Sturge-Weber syndrome (SWS) is a rare congenital disorder characterized by a combination of vascular anomalies, neurological deficits, and skin abnormalities. The disorder is associated<\/p>","protected":false},"author":1,"featured_media":22977,"comment_status":"open","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[298],"tags":[],"class_list":["post-12974","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-medlibrary"],"_links":{"self":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/12974","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/comments?post=12974"}],"version-history":[{"count":1,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/12974\/revisions"}],"predecessor-version":[{"id":13947,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/12974\/revisions\/13947"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media\/22977"}],"wp:attachment":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media?parent=12974"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/categories?post=12974"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/tags?post=12974"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}