{"id":1446,"date":"2023-06-29T14:33:02","date_gmt":"2023-06-29T11:33:02","guid":{"rendered":"https:\/\/ringdoc.ro\/resurse-medicale\/?p=1446"},"modified":"2024-08-23T19:30:00","modified_gmt":"2024-08-23T16:30:00","slug":"sclezora-tuberoasa-cauze-tratament","status":"publish","type":"post","link":"https:\/\/ringdoc.ro\/resurse-medicale\/sclezora-tuberoasa-cauze-tratament\/","title":{"rendered":"Scleroza Tuberoas\u0103. Cauze \u0219i tratament"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-post\" data-elementor-id=\"1446\" class=\"elementor elementor-1446\" data-elementor-post-type=\"post\">\n\t\t\t\t<div class=\"elementor-element elementor-element-e5e46e5 e-flex e-con-boxed e-con e-parent\" data-id=\"e5e46e5\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-bf3ffae elementor-widget elementor-widget-text-editor\" data-id=\"bf3ffae\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Scleroza Tuberoas\u0103 sau Boala Bourneville este o boala genetica autozomal dominant\u0103 cu expresie variabil\u0103, care poate fi transmis\u0103 de un unul din p\u0103rin\u021bi, ce afecteaz\u0103 mai multe aparate \u0219i sisteme, ce este remarcat\u0103 prin pete acrome \u2013 deschise la culoare, multiple tumori benigne cu localizare diferit\u0103 -creier, inim\u0103, pl\u0103m\u00e2ni, ochi, rinichi).<br \/>Din punct de vedere genetic, a fost descris\u0103 afectarea genei TSC1 \u0219i TSC2(tuberina \u0219i hamartina ce ac\u021bioneaz\u0103 ca supresori tumorali).<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-62a5ec9 elementor-widget elementor-widget-heading\" data-id=\"62a5ec9\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Manifest\u0103ri ale bolii<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-324a31d elementor-widget elementor-widget-heading\" data-id=\"324a31d\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h4 class=\"elementor-heading-title elementor-size-default\">Manifest\u0103ri la nivelul pielii \u0219i unghiilor<\/h4>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-5c0ec21 elementor-widget elementor-widget-text-editor\" data-id=\"5c0ec21\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Pete acrome\u00a0sunt pete de culoare alba, neproeminente pe trunchi, membre, nu \u0219i pe fata prezente de la na\u0219tere sau care apar \u00een primul an de via\u021b\u0103, rotunde sau cu marginile dantelate, de dimensiuni diferite. Este cel mai precoce semn cutanat al Sclerozei tuberoase Bourneville care sugereaz\u0103 diagnosticul \u00een momentul examin\u0103rii unui copil. Uneori se vad cu ochiul liber, alteori cu o lampa speciala cu UV (ultraviolete) \u2013 necesit\u00e2nd evaluare dermatologic\u0103. Trebuie s\u0103 fie cel pu\u021bin trei pete (trebuie s\u0103 \u00eentruneasc\u0103 criteriile de diagnostic pozitiv).<\/p><ul><li><strong>Mese de p\u0103r<\/strong> \u2013 por\u021biuni din p\u0103r sau spr\u00e2ncene de culoare alb\u0103.<\/li><li><strong>Angiofibroame<\/strong> \u2013 sunt tumori de culoare roz \u2013 rosii, de mici dimensiuni, situate pe nas, obraji \u2013 dispuse \u00een fluture (Fluturele lui Pringle), b\u0103rbie, care \u00een general apar dup\u0103 v\u00e2rsta de 4-6 ani, rar sub v\u00e2rsta de 2 ani \u00a0\u0219i cresc \u00een dimensiuni la pubertate. Ele pot fi confundate cu acneea juvenila.<\/li><li><strong>Fibroame<\/strong> sub \u2013 sau periunghiale\u00a0\u2013 sunt niste tumori care apar dup\u0103 pubertate, la aproximativ 20% dintre pacien\u021bii, mai frecvent la degetele de la picioare decat la degetele de la m\u00e2ini, fiind situate \u00een \u0219an\u021bul dintre unghie \u0219i piele. Ar trebui s\u0103 examin\u0103m \u0219i p\u0103rin\u021bii, prezen\u021ba fibroamelor la ei suger\u00e2nd transmiterea bolii de la ace\u0219tia.<\/li><li><strong>Pielea Shagreen<\/strong>, apare \u00een general p\u00e2n\u0103 la v\u00e2rsta de 10 ani, reprezentant o zon\u0103 mai \u00eengro\u0219at\u0103 de piele, de culoare \u00eenchis\u0103 situate lombo-sacarat, dar nu numai (aspect de coaj\u0103 de portocal\u0103)<\/li><li><strong>Afectare stomatologic\u0103<\/strong> \u2013 fibroamele sau papiloamele orale, defect de smalt dentar.<\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-7e369e2 elementor-widget elementor-widget-heading\" data-id=\"7e369e2\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h4 class=\"elementor-heading-title elementor-size-default\">Manifest\u0103ri oculare<\/h4>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-f31efda elementor-widget elementor-widget-text-editor\" data-id=\"f31efda\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<ul><li>Hamartom retinian\u00a0\u2013 apar \u00een 50% din cazuri, se pot calcifica, sunt asimptomatice \u0219i nu evolueaz\u0103; sunt vizibile numai la examinarea fundului de ochi.<\/li><li>Zone depigmentate ale retinei.<\/li><li>Pete hiperpigmentate pe iris, coloboma.<\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-a83eda4 elementor-widget elementor-widget-heading\" data-id=\"a83eda4\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h4 class=\"elementor-heading-title elementor-size-default\">Manifest\u0103ri neurologice<\/h4>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-67bf0a7 elementor-widget elementor-widget-text-editor\" data-id=\"67bf0a7\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<ul><li>Epilepsie\u00a0\u2013 apare \u00een 75 % din cazuri, debut\u00e2nd frecvent \u00een primul an de via\u021b\u0103 sau chiar la nou n\u0103scut. Se poate manifesta ca \u201espasme infantile\u201d sau crize focale-pe o parte a corpului sau generalizate \u2013 la nivelul \u00eentregului corp.<\/li><li>Retard mental\u00a0\u2013 apare mai frecvent la cei cu epilepsie, mai ales dac\u0103 boala a debutat sub v\u00e2rsta de 2 ani. Sunt autori care sus\u021bin ca \u00eentre 50 \u0219i 80% dintre cei cu scleroza tuberoas\u0103 Bourneville au diverse grade de retard.<\/li><li>Sindrom hiperkinetik.<\/li><li>Tulburare pervaziv\u0103 de dezvoltare din spectrul autist.<\/li><li>Tulbur\u0103ri de comportament.<\/li><li>Tumorile cerebrale sunt urm\u0103toarele: hamartoamele ganglioneuronale \u2013 care au fost descrise \u0219i la fat (deci se pot depista intrauterin), noduli subependimari, astrocitom, mai rar Glioblastom, leziuni de substan\u021b\u0103 alb\u0103.<\/li><li>Tuberi corticali<\/li><li>Deficite neurologice secundare\u00a0tumorilor sau hipertensiunii inter-craniene (pareze).<\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-7c7a136 elementor-widget elementor-widget-heading\" data-id=\"7c7a136\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h4 class=\"elementor-heading-title elementor-size-default\">Manifest\u0103ri cardiace<\/h4>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-64e14af elementor-widget elementor-widget-text-editor\" data-id=\"64e14af\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<ul><li>Tumori cardiace\u00a0unice sau chiar multiple \u2013 rabdomioame cardiace care se manifest\u0103 la na\u0219tere \u0219i care pot pune \u00een pericol via\u021ba nou n\u0103scutului, ulterior ele involueaz\u0103 \u0219i sunt asimptomatice la copil, adolescent \u0219i adult.<\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-bc23b54 elementor-widget elementor-widget-heading\" data-id=\"bc23b54\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h4 class=\"elementor-heading-title elementor-size-default\">Manifest\u0103ri osoase<\/h4>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-1340e59 elementor-widget elementor-widget-text-editor\" data-id=\"1340e59\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<ul><li>Leziuni chistice\u00a0la m\u00e2ini \u0219i picioare, deform\u0103ri osoase \u2013 oase late.<\/li><li>Zone de osteoscleroza\u00a0(radiologic) la nivelul craniului, coloanei vertebrale, pelvis.<\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-885d600 elementor-widget elementor-widget-heading\" data-id=\"885d600\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h4 class=\"elementor-heading-title elementor-size-default\">Afectare pulmonar\u0103<\/h4>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-ba4a386 elementor-widget elementor-widget-text-editor\" data-id=\"ba4a386\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<ul><li><p>Tumori pulmonare, care apar numai la adult, \u00een special la sexul feminin.<\/p><\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-79516de elementor-widget elementor-widget-heading\" data-id=\"79516de\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h4 class=\"elementor-heading-title elementor-size-default\">Afectarea ficatului \u0219i a splinei<\/h4>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-0ea544a elementor-widget elementor-widget-text-editor\" data-id=\"0ea544a\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<ul><li><p>Tumori sau chisturi\u00a0la nivelul ficatului \u0219i splinei<\/p><\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-4e5fd59 elementor-widget elementor-widget-heading\" data-id=\"4e5fd59\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h4 class=\"elementor-heading-title elementor-size-default\">Manifest\u0103ri osoase<\/h4>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-fafcaaf elementor-widget elementor-widget-text-editor\" data-id=\"fafcaaf\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<ul><li>Leziuni chistice\u00a0la m\u00e2ini \u0219i picioare, deform\u0103ri osoase \u2013 oase late.<\/li><li>Zone de osteoscleroza\u00a0(radiologic) la nivelul craniului, coloanei vertebrale, pelvis.<\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-5f66655 elementor-widget elementor-widget-heading\" data-id=\"5f66655\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h4 class=\"elementor-heading-title elementor-size-default\">Tumori tiroidiene<\/h4>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-53aff1f elementor-widget elementor-widget-text-editor\" data-id=\"53aff1f\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<ul><li>Deoarece sunt afectate multe organe, stabilirea diagnosticului de scleroza tuberoas\u0103 Bourneville se face pe baza unor investiga\u021bii extinse paraclinice.<\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-7a5e80a elementor-widget elementor-widget-heading\" data-id=\"7a5e80a\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Sindroamele Neurocutanate<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-3f21b3d elementor-widget elementor-widget-text-editor\" data-id=\"3f21b3d\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Sindroamele neurocutanate sunt PETE PE CORP. Culoarea acestora poate fi:<\/p><ul><li>acrome \u2013 deschise la culoare<\/li><li>maronii\/cafe-au-lait \u2013 hiper-pigmentare<\/li><li>pata ca vinul de porto \u2013 angiom<\/li><\/ul><p>Este necesar\u0103 evaluarea de c\u0103tre <span style=\"color: #ff6a39;\"><a style=\"color: #ff6a39;\" href=\"https:\/\/ringdoc.ro\/patient\/medicList\/neurologie-pediatrica\">neurologul pediatru<\/a><\/span> atunci c\u00e2nd acestea au simptomatologie \u0219i\/sau sunt numeroase.<\/p><p>\u00cen popula\u021bia general\u0103 sunt descrise aceste pete, neav\u00e2nd simptomatologie clinic\u0103, dar \u00een num\u0103r redus. Dac\u0103 acestea sunt numeroase atunci este necesar\u0103 aplicarea unor criterii de diagnostic pentru \u00eencadrarea lor \u00eentr-un diagnostic de certitudine.<\/p><p>Sindroamele neurocutanate constituie un grup vast de boli ce implic\u0103 anomalii genetice \u0219i de dezvoltare ale structurilor de origine ectodermal\u0103. Ele sunt de mare importan\u021b\u0103 pentru neurologul pediatru deoarece prezint\u0103 aspecte clinice ale afect\u0103rii sistemului nervos central \u0219i periferic, ochiului \u0219i pielii. Stigmatele cutanate sunt prezente adesea la v\u00e2rst\u0103 mic\u0103, chiar de la na\u0219tere, astfel diagnosticul poate fi pus pana la apari\u021bia simptomatologiei neurologice.<\/p><p>Afectarea dezvolt\u0103rii \u021besutului nervos, \u00een func\u021bie de sindrom, are loc cel mai probabil \u00eentre s\u0103pt\u0103m\u00e2nile 8 \u2013 24 de gesta\u021bie, care este o perioad\u0103 de proliferare \u0219i migrare celular\u0103 foarte activ\u0103. De aceea, \u00een sindroamele neurocutanate sunt frecvente defectele de migrare neuronal\u0103 \u0219i pot fi \u00eent\u00e2lnite modific\u0103ri corticale focale sau malforma\u021bii ale sistemului nervos central. Hemimegalencefalia (reprezint\u0103 m\u0103rirea \u0219i displazia unei emisfere cerebrale)poate apare sporadic ca o manifestare izolat\u0103 sau poate face parte dintr-un sindrom neurocutanat.<\/p><p>Termenul de \u201cfacomatoze\u201d, folosit adesea pentru \u00eentregul grup de boli, a fost introdus de Van der Hoeve (1923) care se referea la tumorile retiniene (facoamele retiniene) observate frecvent \u00een scleroza tuberoas\u0103.<\/p><p>Dintre sindroamele neurocutanate determinate genetic, unele sunt transmise autosomal dominant, iar altele pot ap\u0103rea \u0219i ca muta\u021bii de novo. Se pot \u00eent\u00e2lni \u0219i alte modalit\u0103\u021bi de transmitere: autosomal recesiv, X-linkat sau mozaicism cromozomial.<\/p><p>Sindroame neurocutanate mai frecvente sunt:<\/p><ul><li>Scleroza tuberoasa<\/li><li>Neurofibromatoza<\/li><li>Sindrom Stuge-Webber<\/li><li>Incontinentia pigmenti<\/li><li>Telangiectazia familiara (boala Rendu-Osler-Weber)<\/li><li>Ataxia-telangiectazia<\/li><\/ul><p>Pentru o evaluare cat mai corect\u0103, pacientul cu boal\u0103 neurocutanat\u0103 are nevoie de o echip\u0103 multidisciplinar\u0103 care include medic pediatru, medic de familie, neurolog pediatru, neurochirurg, chirurg ortoped, oftalmolog, oncolog, echip\u0103 de reabilitare \u2013 terapeu\u021bi fizici, psihoterapeu\u021bi, terapeu\u021bi ocupa\u021bionali, logopedie \u0219i audiologie.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-352c409 elementor-widget elementor-widget-heading\" data-id=\"352c409\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Pentru afectarea neurologic\u0103 sunt importante:<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-8acf58a elementor-widget elementor-widget-text-editor\" data-id=\"8acf58a\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<ul><li>Angio RMN cerebral \u0219i CT cerebral care eviden\u021biaz\u0103 modific\u0103rile radiologice specifice sclerozei\u00a0tuberoase Bourneville sau tumori cerebrale, leziuni de substan\u021b\u0103 alba, hidrocefalie.<\/li><li>EEG\u00a0(electroencefalograma) care arata modific\u0103ri specifice \u00een caz de epilepsie \u2013 descarcari epileptiforme.<\/li><li>Examen psihiatric \u0219i psihologic importante pentru stabilirea gradului retardului, prezenta autismului, sindromului ADHD.<\/li><li>Fund \u00a0de ochi \u0219i examen oftalmologic pentru evidentierea tumorilor oculare.\u00a0<\/li><li>Ecografie de cord \u0219i EKG pentru afectarea cardiaca.<\/li><li>Ecografie abdominala, CT sau RMN abdominal pentru identificarea unor tumori hepatice, splenice, renale.<\/li><li>PET CT \u2013 eviden\u021biaz\u0103 focare de hipo-metabolism ce coincid cu tuberii corticali.<\/li><li>Radiografie pulmonara pentru stabilirea afect\u0103rii pulmonare.<\/li><li>Radiografie osoasa pentru afectarea oaselor.<\/li><li>Examinarea p\u0103rin\u021bilor \u2013 este foarte importanta pentru acordarea sfatului genetic.<\/li><li>Dup\u0103 evaluarea neurologica \u0219i efectuarea investiga\u021biilor necesare se vor contoriza criteriile de diagnostic \u0219i ulterior se va ob\u021bine diagnosticul de certitudine.<\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-4e03999 elementor-widget elementor-widget-heading\" data-id=\"4e03999\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Tratament<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-02f0a53 elementor-widget elementor-widget-text-editor\" data-id=\"02f0a53\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>In functie de afectarea pe aparate \u0219i sisteme se vor impune tratamentele specifice: anti-epileptice, chirurgia epilepsiei, nefrectomie dac\u0103 este necesar, tratarea rabdomioamelor cardiace dac\u0103 sunt prezente.<\/p><p>Tratamentul tumorilor se face cu Everolimus \u2013 acesta \u00eencetine\u0219te cre\u0219terea \u00een dimensiune a diferitelor tumori.<\/p><p>Necesitatea unei echipe multidisciplinare \u00een cazul pacien\u021bilor cu scleroz\u0103 Tuberoas\u0103 este obligatorie. Ace\u0219tia necesita evalu\u0103ri periodice pentru a descoperi complica\u021biile aferente din timp.<\/p><p>Sindroamele neurocutanate reprezint\u0103 una din cauzele genetice ale\u00a0 epilepsiei, iar recunoa\u0219terea semnelor cutanate precoce ajuta la un diagnostic etiologic precoce, permi\u021b\u00e2nd aprecierea prognosticului epilepsiei \u0219i o decizie cat mai concreta asupra tratamentului de fond. Evolu\u021bia epilepsiei asociate sindroamelor neurocutanate depinde de leziunile structurale cerebrale subiacente, iar prognosticul devine nefavorabil atunci c\u00e2nd acestea sunt prezente.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-8086657 e-con-full e-grid e-con e-child\" data-id=\"8086657\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t<div class=\"elementor-element elementor-element-6e8b093 e-con-full e-flex e-con e-child\" data-id=\"6e8b093\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-9be93ae elementor-widget elementor-widget-image\" data-id=\"9be93ae\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<a href=\"https:\/\/ringdoc.ro\/patient\/medicProfile\/7405\">\n\t\t\t\t\t\t\t<img decoding=\"async\" src=\"https:\/\/blog.ringdoc.ro\/wp-content\/uploads\/2022\/12\/dr-lascu-madalina-neurologie-pediatrica.jpg\" title=\"\" alt=\"Dr. Lascu Madalina - neurologie pediatrica Constanta\" loading=\"lazy\" \/>\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-7b3f791 elementor-widget elementor-widget-text-editor\" data-id=\"7b3f791\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><span style=\"color: #ff6a39;\"><strong><a style=\"background-color: #ffffff; color: #ff6a39;\" href=\"https:\/\/ringdoc.ro\/patient\/medicProfile\/7405\" target=\"_blank\" rel=\"noopener\">Dr. M\u0103d\u0103lina Lascu<\/a><\/strong><\/span><br \/>Medic specialist neurologie pediatric\u0103<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-16fdade e-con-full e-flex e-con e-child\" data-id=\"16fdade\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-20ef3c9 elementor-widget elementor-widget-heading\" data-id=\"20ef3c9\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Bibliografie<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-5a0570d elementor-widget elementor-widget-text-editor\" data-id=\"5a0570d\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<ul><li><span style=\"color: #808080;\">Neurologie Pediatrica Note de curs Conf. Dr. Craiu, Catrinel Iliescu<br \/><br \/><\/span><\/li><li><span style=\"color: #808080;\"><a style=\"color: #808080;\" href=\"https:\/\/radiopaedia.org\/articles\/cortical-tubers\">https:\/\/radiopaedia.org\/articles\/cortical-tubers<\/a><br \/><br \/><\/span><\/li><li><span style=\"color: #808080;\"><a style=\"color: #808080;\" href=\"https:\/\/www.neurologie-pediatrica.ro\/2021\/02\/21\/sindroamele-neurocutanate\/\">https:\/\/www.neurologie-pediatrica.ro\/2021\/02\/21\/sindroamele-neurocutanate\/<\/a><br \/><br \/><\/span><\/li><li><span style=\"color: #808080;\"><a style=\"color: #808080;\" href=\"http:\/\/neurologiepediatrica.ro\/scleroza-tuberoasa-bourneville\/\">http:\/\/neurologiepediatrica.ro\/scleroza-tuberoasa-bourneville\/<\/a><\/span><\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"<p>Scleroza Tuberoas\u0103 sau Boala Bourneville este o boala genetica autozomal dominant\u0103 cu expresie variabil\u0103, care poate fi transmis\u0103 de un unul din p\u0103rin\u021bi, ce afecteaz\u0103 mai multe aparate \u0219i sisteme, ce este remarcat\u0103 prin pete acrome \u2013 deschise la culoare, multiple tumori benigne cu localizare diferit\u0103 -creier, inim\u0103, pl\u0103m\u00e2ni, ochi, rinichi).Din punct de vedere genetic, [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":3737,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[57],"tags":[73,72],"class_list":["post-1446","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurologie-pediatrica","tag-boli-genetice","tag-scleroza-tuberoasa"],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v27.4 (Yoast SEO v27.4) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>Scleroza Tuberoas\u0103. 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