{"id":1949,"date":"2009-12-22T22:57:07","date_gmt":"2009-12-23T03:57:07","guid":{"rendered":"http:\/\/insidesurgery.com\/?p=1949"},"modified":"2013-08-17T17:51:26","modified_gmt":"2013-08-17T21:51:26","slug":"tuberous-sclerosis-bournevilles-disease","status":"publish","type":"post","link":"https:\/\/insidesurgery.com\/2009\/12\/tuberous-sclerosis-bournevilles-disease\/","title":{"rendered":"Tuberous Sclerosis (Bourneville’s Disease)"},"content":{"rendered":"

Pathophysiology<\/strong><\/p>\n

characterized by hamartomas of the retina, brain, and viscera<\/p>\n

Signs and Symptoms<\/strong><\/p>\n

\"tuberoussclerosis\"<\/p>\n

1)<\/strong> glial tumors 2)<\/strong> subependymal nodules 3)<\/strong> rhabdomyomas of the heart 4)<\/strong> angiomyolipoma of the heart and kidneys, bilateral kidney cysts 5)<\/strong> astrocytic hamartomas of the retina 6)<\/strong> angiofibromas of the face 7)<\/strong> connective tissue nevi (shagreen patches) 8)<\/strong> “ash leaf” hypopigmented spots on the skin 9)<\/strong> seizures 10)<\/strong> mental retardation 11)<\/strong> bone lesions<\/p>\n

Histology\/Gross Pathology<\/strong><\/p>\n

1)<\/strong> cortical tubors – growths of strikingly atypical cells with both neuronal and glial features 2)<\/strong> subependymal giant cell tumors with pleomorphic cells resembling glia and neurons<\/p>\n

Associated Conditions<\/strong><\/p>\n

1)<\/strong> pancreatic endocrine tumors (insulinoma, gastrinoma) 2)<\/strong> hydrocephalus from obstructed ventricles owing to subependymal nodules<\/p>\n

Biochemistry<\/strong><\/p>\n

1)<\/strong> disease involves arrested maturation of neuroectoderm 2)<\/strong> associated with mutations for protein hematin and tuberin 3)<\/strong> interruption of cystolic G protein regulation<\/p>\n

Inheritance\/Epidemiology<\/strong><\/p>\n

1)<\/strong> autosomal dominant but with variable penetrance 2)<\/strong> involved genes are TSC1 on chromosome 9 (9q34) and TSC2 on chromosome 16 (16p13)<\/p>\n

Treatment<\/strong><\/p>\n

1)<\/strong> anticonvulsants 2)<\/strong> shunting for hydrocephalus<\/p>\n

Tips for USMLE<\/strong><\/p>\n

1)<\/strong> grossly hamartomas\/subependymal masses look like “candle drippings” 2)<\/strong> if question mentions ash leaf spots, think tuberous sclerosis 3)<\/strong> if question mentions a forehead lesion, think tuberous sclerosis<\/p>\n","protected":false},"excerpt":{"rendered":"

Pathophysiology characterized by hamartomas of the retina, brain, and viscera Signs and Symptoms 1) glial tumors 2) subependymal nodules 3) rhabdomyomas of the heart 4) angiomyolipoma of the heart and kidneys, bilateral kidney cysts 5) astrocytic hamartomas of the retina 6) angiofibromas of the face 7) connective tissue nevi (shagreen patches) 8) “ash leaf” hypopigmented […]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"_genesis_hide_title":false,"_genesis_hide_breadcrumbs":false,"_genesis_hide_singular_image":false,"_genesis_hide_footer_widgets":false,"_genesis_custom_body_class":"","_genesis_custom_post_class":"","_genesis_layout":"","footnotes":""},"categories":[5372,5108,63],"tags":[522,527,523,526,520,524,521,525],"yoast_head":"\nTuberous Sclerosis (Bourneville's Disease) - InsideSurgery Medical Information Blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/insidesurgery.com\/2009\/12\/tuberous-sclerosis-bournevilles-disease\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Tuberous Sclerosis (Bourneville's Disease) - InsideSurgery Medical Information Blog\" \/>\n<meta property=\"og:description\" content=\"Pathophysiology characterized by hamartomas of the retina, brain, and viscera Signs and Symptoms 1) glial tumors 2) subependymal nodules 3) rhabdomyomas of the heart 4) angiomyolipoma of the heart and kidneys, bilateral kidney cysts 5) astrocytic hamartomas of the retina 6) angiofibromas of the face 7) connective tissue nevi (shagreen patches) 8) “ash leaf” hypopigmented […]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/insidesurgery.com\/2009\/12\/tuberous-sclerosis-bournevilles-disease\/\" \/>\n<meta property=\"og:site_name\" content=\"InsideSurgery Medical Information Blog\" \/>\n<meta property=\"article:published_time\" content=\"2009-12-23T03:57:07+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2013-08-17T21:51:26+00:00\" \/>\n<meta property=\"og:image\" content=\"http:\/\/insidesurgery.com\/wp-content\/uploads\/2009\/12\/tuberoussclerosis.jpg\" \/>\n<meta name=\"author\" content=\"Editor\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"Editor\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\/\/insidesurgery.com\/2009\/12\/tuberous-sclerosis-bournevilles-disease\/\",\"url\":\"https:\/\/insidesurgery.com\/2009\/12\/tuberous-sclerosis-bournevilles-disease\/\",\"name\":\"Tuberous Sclerosis (Bourneville's Disease) - InsideSurgery Medical Information Blog\",\"isPartOf\":{\"@id\":\"https:\/\/insidesurgery.com\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\/\/insidesurgery.com\/2009\/12\/tuberous-sclerosis-bournevilles-disease\/#primaryimage\"},\"image\":{\"@id\":\"https:\/\/insidesurgery.com\/2009\/12\/tuberous-sclerosis-bournevilles-disease\/#primaryimage\"},\"thumbnailUrl\":\"http:\/\/insidesurgery.com\/wp-content\/uploads\/2009\/12\/tuberoussclerosis.jpg\",\"datePublished\":\"2009-12-23T03:57:07+00:00\",\"dateModified\":\"2013-08-17T21:51:26+00:00\",\"author\":{\"@id\":\"https:\/\/insidesurgery.com\/#\/schema\/person\/80c1e5c67f8a2c348e38e202270e8594\"},\"breadcrumb\":{\"@id\":\"https:\/\/insidesurgery.com\/2009\/12\/tuberous-sclerosis-bournevilles-disease\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\/\/insidesurgery.com\/2009\/12\/tuberous-sclerosis-bournevilles-disease\/\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\/\/insidesurgery.com\/2009\/12\/tuberous-sclerosis-bournevilles-disease\/#primaryimage\",\"url\":\"\",\"contentUrl\":\"\"},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\/\/insidesurgery.com\/2009\/12\/tuberous-sclerosis-bournevilles-disease\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\/\/insidesurgery.com\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Tuberous Sclerosis (Bourneville’s Disease)\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\/\/insidesurgery.com\/#website\",\"url\":\"https:\/\/insidesurgery.com\/\",\"name\":\"InsideSurgery Medical Information Blog\",\"description\":\"Details of surgical procedures, pathophysiology, signs and symptoms, and treatment of medical diseases,medical and surgical eponyms, and surgeons and surgery in the news\",\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\/\/insidesurgery.com\/?s={search_term_string}\"},\"query-input\":\"required name=search_term_string\"}],\"inLanguage\":\"en-US\"},{\"@type\":\"Person\",\"@id\":\"https:\/\/insidesurgery.com\/#\/schema\/person\/80c1e5c67f8a2c348e38e202270e8594\",\"name\":\"Editor\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\/\/insidesurgery.com\/#\/schema\/person\/image\/\",\"url\":\"https:\/\/secure.gravatar.com\/avatar\/41c3c845307fcd3eff88632d6ccaf656?s=96&d=mm&r=g\",\"contentUrl\":\"https:\/\/secure.gravatar.com\/avatar\/41c3c845307fcd3eff88632d6ccaf656?s=96&d=mm&r=g\",\"caption\":\"Editor\"}}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Tuberous Sclerosis (Bourneville's Disease) - InsideSurgery Medical Information Blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/insidesurgery.com\/2009\/12\/tuberous-sclerosis-bournevilles-disease\/","og_locale":"en_US","og_type":"article","og_title":"Tuberous Sclerosis (Bourneville's Disease) - InsideSurgery Medical Information Blog","og_description":"Pathophysiology characterized by hamartomas of the retina, brain, and viscera Signs and Symptoms 1) glial tumors 2) subependymal nodules 3) rhabdomyomas of the heart 4) angiomyolipoma of the heart and kidneys, bilateral kidney cysts 5) astrocytic hamartomas of the retina 6) angiofibromas of the face 7) connective tissue nevi (shagreen patches) 8) “ash leaf” hypopigmented […]","og_url":"https:\/\/insidesurgery.com\/2009\/12\/tuberous-sclerosis-bournevilles-disease\/","og_site_name":"InsideSurgery Medical Information Blog","article_published_time":"2009-12-23T03:57:07+00:00","article_modified_time":"2013-08-17T21:51:26+00:00","og_image":[{"url":"http:\/\/insidesurgery.com\/wp-content\/uploads\/2009\/12\/tuberoussclerosis.jpg"}],"author":"Editor","twitter_misc":{"Written by":"Editor","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"WebPage","@id":"https:\/\/insidesurgery.com\/2009\/12\/tuberous-sclerosis-bournevilles-disease\/","url":"https:\/\/insidesurgery.com\/2009\/12\/tuberous-sclerosis-bournevilles-disease\/","name":"Tuberous Sclerosis (Bourneville's Disease) - InsideSurgery Medical Information Blog","isPartOf":{"@id":"https:\/\/insidesurgery.com\/#website"},"primaryImageOfPage":{"@id":"https:\/\/insidesurgery.com\/2009\/12\/tuberous-sclerosis-bournevilles-disease\/#primaryimage"},"image":{"@id":"https:\/\/insidesurgery.com\/2009\/12\/tuberous-sclerosis-bournevilles-disease\/#primaryimage"},"thumbnailUrl":"http:\/\/insidesurgery.com\/wp-content\/uploads\/2009\/12\/tuberoussclerosis.jpg","datePublished":"2009-12-23T03:57:07+00:00","dateModified":"2013-08-17T21:51:26+00:00","author":{"@id":"https:\/\/insidesurgery.com\/#\/schema\/person\/80c1e5c67f8a2c348e38e202270e8594"},"breadcrumb":{"@id":"https:\/\/insidesurgery.com\/2009\/12\/tuberous-sclerosis-bournevilles-disease\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/insidesurgery.com\/2009\/12\/tuberous-sclerosis-bournevilles-disease\/"]}]},{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/insidesurgery.com\/2009\/12\/tuberous-sclerosis-bournevilles-disease\/#primaryimage","url":"","contentUrl":""},{"@type":"BreadcrumbList","@id":"https:\/\/insidesurgery.com\/2009\/12\/tuberous-sclerosis-bournevilles-disease\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/insidesurgery.com\/"},{"@type":"ListItem","position":2,"name":"Tuberous Sclerosis (Bourneville’s Disease)"}]},{"@type":"WebSite","@id":"https:\/\/insidesurgery.com\/#website","url":"https:\/\/insidesurgery.com\/","name":"InsideSurgery Medical Information Blog","description":"Details of surgical procedures, pathophysiology, signs and symptoms, and treatment of medical diseases,medical and surgical eponyms, and surgeons and surgery in the news","potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/insidesurgery.com\/?s={search_term_string}"},"query-input":"required name=search_term_string"}],"inLanguage":"en-US"},{"@type":"Person","@id":"https:\/\/insidesurgery.com\/#\/schema\/person\/80c1e5c67f8a2c348e38e202270e8594","name":"Editor","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/insidesurgery.com\/#\/schema\/person\/image\/","url":"https:\/\/secure.gravatar.com\/avatar\/41c3c845307fcd3eff88632d6ccaf656?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/41c3c845307fcd3eff88632d6ccaf656?s=96&d=mm&r=g","caption":"Editor"}}]}},"_links":{"self":[{"href":"https:\/\/insidesurgery.com\/wp-json\/wp\/v2\/posts\/1949"}],"collection":[{"href":"https:\/\/insidesurgery.com\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/insidesurgery.com\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/insidesurgery.com\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/insidesurgery.com\/wp-json\/wp\/v2\/comments?post=1949"}],"version-history":[{"count":0,"href":"https:\/\/insidesurgery.com\/wp-json\/wp\/v2\/posts\/1949\/revisions"}],"wp:attachment":[{"href":"https:\/\/insidesurgery.com\/wp-json\/wp\/v2\/media?parent=1949"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/insidesurgery.com\/wp-json\/wp\/v2\/categories?post=1949"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/insidesurgery.com\/wp-json\/wp\/v2\/tags?post=1949"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}