{"id":2883,"date":"2022-10-03T16:21:20","date_gmt":"2022-10-03T16:21:20","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=2883"},"modified":"2026-06-22T16:50:34","modified_gmt":"2026-06-22T16:50:34","slug":"enfermedades-raras-neurologicas-diagnosticables-por-medios-sencillos","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/enfermedades-raras-neurologicas-diagnosticables-por-medios-sencillos\/","title":{"rendered":"Rare neurological diseases diagnosable by simple means."},"content":{"rendered":"<ul class=\"wp-block-list\"><li>Cholesterol, HDL, LDL, triglycerides: Tangier disease. Abetalipoproteinemia. Smith-Lemli-Opitz, Cerebrotendinous Xanthomatosis, and other cholesterol synthesis disorders. <\/li><li>Alpha-fetoprotein: Ataxia-telangiectasia, Ataxia with oculomotor apraxia type 1 and type 2. <\/li><li>Uric acid: Lesch-Nyhan. <\/li><li>MCV: Alpha-thalassemia mental retardation syndrome, X-linked. <\/li><li>Ferritin. Neuroferritinopathies. <\/li><li>TSH, FT4, FT3. Allan-Herndon-Dudley. Benign hereditary chorea. <\/li><li>Peripheral blood smear: <ul><li>Acanthocytes: Neuroacanthocytosis. McLeod syndrome. Wolman disease. Abetalipoproteinemia. <\/li><li>Vacuolated lymphocytes: Lysosomal storage diseases, NCL. <\/li><\/ul><\/li><\/ul>\n\n\n\n<figure class=\"wp-block-image size-large\"><img fetchpriority=\"high\" decoding=\"async\" width=\"977\" height=\"1024\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-7-977x1024.png\" alt=\"\" class=\"wp-image-2884\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-7-977x1024.png 977w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-7-286x300.png 286w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-7-768x805.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-7-1465x1536.png 1465w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-7-1954x2048.png 1954w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-7-11x12.png 11w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-7-1568x1644.png 1568w\" sizes=\"(max-width: 977px) 100vw, 977px\" \/><figcaption>http:\/\/evm.health2media.com\/#\/detail-view\/generalsitu\/0\/17<\/figcaption><\/figure>\n\n\n<div id=\"zotpress-b893bca0185ef9b94e5ad95154880a64\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{19955111:MENBMLMF;19955111:WMLIGG2P;19955111:QSS3WYGJ}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n        <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">default<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TITLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWIMAGE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWTAGS ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_DOWNLOADABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_NOTES ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_ABSTRACT ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_CITEABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TARGET ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_URLWRAP ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_FORCENUM ZP_ATTR\"><\/span>\n        <span class=\"ZP_HIGHLIGHT ZP_ATTR\"><\/span>\n        <span class=\"ZP_POSTID ZP_ATTR\">2883<\/span>\n\t\t<span class=\"ZOTPRESS_PLUGIN_URL ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->","protected":false},"excerpt":{"rendered":"<p>Cholesterol, HDL, LDL, triglycerides: Tangier disease. Abetalipoproteinemia. Smith-Lemli-Opitz, Cerebrotendinous Xanthomatosis and other disorders of cholesterol synthesis. Alpha-fetoprotein: Ataxia-telangiectasia, Ataxia with oculomotor apraxia type 1 and type 2. Uric acid: Lesch-Nyhan. MCV: X-linked alpha-thalassemia mental retardation syndrome. Ferritin. Neuroferritinopathies. TSH, FT4, FT3. Allan-Herndon-Dudley. Benign hereditary chorea. Peripheral blood smear: Acanthocytes: Neuroacanthocytosis. &hellip; <\/p>\n<p class=\"link-more\"><a href=\"https:\/\/neuropediatoolkit.org\/en\/enfermedades-raras-neurologicas-diagnosticables-por-medios-sencillos\/\" class=\"more-link\">Continue reading<span class=\"screen-reader-text\"> \"Rare neurological diseases diagnosable by simple means.\"<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":2885,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[7],"tags":[],"class_list":["post-2883","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-metabolismo","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2883","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=2883"}],"version-history":[{"count":2,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2883\/revisions"}],"predecessor-version":[{"id":8362,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2883\/revisions\/8362"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/2885"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=2883"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=2883"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=2883"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}