{"id":96,"date":"2023-12-19T12:15:28","date_gmt":"2023-12-19T12:15:28","guid":{"rendered":"http:\/\/www.igclinic.ie\/?page_id=96"},"modified":"2023-12-19T12:15:28","modified_gmt":"2023-12-19T12:15:28","slug":"neurofibromatosis","status":"publish","type":"page","link":"http:\/\/www.igclinic.ie\/?page_id=96","title":{"rendered":"Neurofibromatosis"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">There are two types of Neurofibromatosis:<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong><em>Neurofibromatosis type 1 (NF1)<\/em><\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong><em>Neurofibromatosis type 2 (NF2)<\/em><\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Neurofibromatosis type 1<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The neurofibromatoses can be distinguished according to type and distribution of hamartomatous lesions. Neurofibromatosis type 1 (NF1) is a common and well known disorder first described by von Recklinghausen in 1849.<\/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: 1\/2500-1\/4000<\/li>\n\n\n\n<li>Male= Female<\/li>\n\n\n\n<li>There is considerable phenotypic variability between members of the same family.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Clinical presentation<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Patients with NF1 usually present in childhood with caf\u00e9-au-lait patches or in adulthood with neurofibromas.<\/p>\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>NF1 Diagnostic Criteria [ ]=% of individuals with features<\/li>\n\n\n\n<li>Patients must have 2 or more of the following:\n<ul class=\"wp-block-list\">\n<li>Caf\u00e9-au-lait patches \uf0286 or more 5mm prepubertal, &gt;15mm in an adult) [&gt;99%]<\/li>\n\n\n\n<li>Axillary or inguinal freckling [85%]<\/li>\n\n\n\n<li>Neurofibromas (2 or more cutaneous\/ subcutaneous) [&gt;99%]<\/li>\n\n\n\n<li>Plexiform neurofibromas (1 or more) [30-50%]<\/li>\n\n\n\n<li>Lisch nodules (benign iris hamartomas see on slit lamp) (2 or more) [95%]<\/li>\n\n\n\n<li>Optic pathway glioma [15% total, 5% symptomatic]<\/li>\n\n\n\n<li>Bony dysplasia (Sphenoid wing\/ long bone or pseudarthrosis) [2%]<\/li>\n\n\n\n<li>First degree relative with NF1<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Complications<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Mild cognitive impairment [30-60%]<\/li>\n\n\n\n<li>Scoliosis [11%]<\/li>\n\n\n\n<li>Malignant peripheral nerve sheath tumours [8-13% lifetime risk]<\/li>\n\n\n\n<li>Cerebral gliomas [2%]<\/li>\n\n\n\n<li>Raised blood pressure may be due to benign essential hyper-tension, renal artery stenosis or phaeochromocytoma [2%]<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Neurofibromatosis type 2 (NF2)<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Neurofibromatosis type 2 (NF2) is a much rarer condition and characterised by the formation of VIIIth cranial nerve vestibular schwannomas.<\/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: 1\/40 000-1\/100 000<\/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>Typically bilateral vestibular schwannomas, deafness and tinnitus<\/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>Neurological features secondary to CNS tumour<\/li>\n\n\n\n<li>Deafness<\/li>\n\n\n\n<li>Cataracts (juvenile)<\/li>\n\n\n\n<li>CALS: 4% of patients have &gt;3, 0% of patients have &gt;6<\/li>\n\n\n\n<li>In contrast to NF1, plexiform neurofibromas, axillary freckling and lisch nodules are rare<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Complications<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>CNS tumours and surgical sequelae<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>There are two types of Neurofibromatosis: Neurofibromatosis type 1 (NF1) Neurofibromatosis type 2 (NF2) Neurofibromatosis type 1 The neurofibromatoses can be distinguished according to type and distribution of hamartomatous lesions. Neurofibromatosis type 1 (NF1) is a common and well known disorder first described by von Recklinghausen in 1849. Epidemiology Clinical presentation Patients with NF1 usually [&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-96","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"http:\/\/www.igclinic.ie\/index.php?rest_route=\/wp\/v2\/pages\/96","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=96"}],"version-history":[{"count":1,"href":"http:\/\/www.igclinic.ie\/index.php?rest_route=\/wp\/v2\/pages\/96\/revisions"}],"predecessor-version":[{"id":97,"href":"http:\/\/www.igclinic.ie\/index.php?rest_route=\/wp\/v2\/pages\/96\/revisions\/97"}],"wp:attachment":[{"href":"http:\/\/www.igclinic.ie\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=96"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}