{"id":100,"date":"2023-12-19T12:16:10","date_gmt":"2023-12-19T12:16:10","guid":{"rendered":"http:\/\/www.igclinic.ie\/?page_id=100"},"modified":"2023-12-19T12:16:10","modified_gmt":"2023-12-19T12:16:10","slug":"tuberous-sclerosis","status":"publish","type":"page","link":"http:\/\/www.igclinic.ie\/?page_id=100","title":{"rendered":"Tuberous Sclerosis"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">Tuberous Sclerosis is a multisystem disorder with a highly variable clinical presentation. The high degree of variability has led to the condition now being called tuberous sclerosis complex (TSC).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Epidemiology<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Incidence is ~ 1\/10 000<\/li>\n\n\n\n<li>Male = Female<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Clinical presentation<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>The most common presentation is in childhood with epilepsy [90%] or developmental delay [80%] or infantile spasms [30%]<\/li>\n\n\n\n<li>Up to 50% of affected individuals may also have normal intelligence<\/li>\n\n\n\n<li>Increasing numbers are being diagnosed in adulthood.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Physical signs<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Facial angiofibromas or forehead plaques<\/li>\n\n\n\n<li>Ungal fibromas<\/li>\n\n\n\n<li>Hypopigmented macules<\/li>\n\n\n\n<li>Shagreen patch<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Diagnosis<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Diagnostic criteria have been developed for TSC which require 2 major features or one major and 2 minor features.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Major clinical diagnostic features<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Developmental delay<\/li>\n\n\n\n<li>Epilepsy<\/li>\n\n\n\n<li>Subependymal nodules\/ hamartomas \/cortical tubers<\/li>\n\n\n\n<li>Periventricular calcification<\/li>\n\n\n\n<li>Facial angiofibromas or forehead plaques<\/li>\n\n\n\n<li>Ungal fibromas<\/li>\n\n\n\n<li>Hypopigmented macules<\/li>\n\n\n\n<li>Shagreen patch<\/li>\n\n\n\n<li>Renal angiomyolipomas<\/li>\n\n\n\n<li>Cardiac rhabdomyoamas (as neonates) [30-70%]<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Minor clinical diagnostic features<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Renal cysts [40%]<\/li>\n\n\n\n<li>Dental Pits<\/li>\n\n\n\n<li>Bone cysts<\/li>\n\n\n\n<li>Rectal polyp hamartomas<\/li>\n\n\n\n<li>Retinal hamartomas<\/li>\n\n\n\n<li>Hepatic hamartomas[15%]<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Complications<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Sporadic mutation patients with TSC1 mutations have a milder condition compared to TSC2 patients. Otherwise there is little difference between the genotypes in their complication rates.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The lesions of TSC are often asymptomatic but the main complications are:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Intractable seizures<\/li>\n\n\n\n<li>Severe developmental delay<\/li>\n\n\n\n<li>Intracranial hypertension secondary to subependymal giant cell astrocytomas<\/li>\n\n\n\n<li>Enlarging renal angiomyolipomas and haematuria<\/li>\n\n\n\n<li>Cystic lung disease (lymphangiomyomatosis) in women<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Tuberous Sclerosis is a multisystem disorder with a highly variable clinical presentation. The high degree of variability has led to the condition now being called tuberous sclerosis complex (TSC). Epidemiology Clinical presentation Physical signs Diagnosis Diagnostic criteria have been developed for TSC which require 2 major features or one major and 2 minor features. Major [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"class_list":["post-100","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"http:\/\/www.igclinic.ie\/index.php?rest_route=\/wp\/v2\/pages\/100","targetHints":{"allow":["GET"]}}],"collection":[{"href":"http:\/\/www.igclinic.ie\/index.php?rest_route=\/wp\/v2\/pages"}],"about":[{"href":"http:\/\/www.igclinic.ie\/index.php?rest_route=\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"http:\/\/www.igclinic.ie\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"http:\/\/www.igclinic.ie\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=100"}],"version-history":[{"count":1,"href":"http:\/\/www.igclinic.ie\/index.php?rest_route=\/wp\/v2\/pages\/100\/revisions"}],"predecessor-version":[{"id":101,"href":"http:\/\/www.igclinic.ie\/index.php?rest_route=\/wp\/v2\/pages\/100\/revisions\/101"}],"wp:attachment":[{"href":"http:\/\/www.igclinic.ie\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=100"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}