{"id":30,"date":"2026-05-07T10:43:30","date_gmt":"2026-05-07T10:43:30","guid":{"rendered":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/?page_id=30"},"modified":"2026-09-15T14:34:41","modified_gmt":"2026-09-15T14:34:41","slug":"differential-diagnosis","status":"publish","type":"page","link":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/identification-diagnosis\/differential-diagnosis\/","title":{"rendered":"Differential Diagnosis"},"content":{"rendered":"<div id=\"acf-block-6a019df5cafb5\" class=\"simple-hero\">\n        <div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"hero-content\">\n\t\t\t\t\t\t\t\t    <span class=\"section-title\">Identification &amp; Diagnosis<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t    <h1>Differential Diagnosis\n<\/h1>\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<figure id=\"acf-block-6a019df5cb1c9\">\n    <div class=\"image image-align-left\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/cln2\/wp-content\/uploads\/sites\/3\/2026\/05\/Identification-hero.jpg?v=0.4\" alt=\"\" \/>            <\/div>\n    <\/figure>\n\n<div id=\"acf-block-6a019df5cb376\" class=\"block wrapped-content block-tight-bottom\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-6a019df5cb4b4\" class=\"block-wysiwyg\">\n            \n\n<h2 style=\"font-weight: bold\">The differential diagnosis of CLN2 disease varies depending on the stage of disease progression<\/h2>\n\n\n<p>CLN2 disease should be considered\u2026<\/p>\n\n\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a019df5cb376\" class=\"block wrapped-content\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-6a019df5cb4b4\" class=\"block-wysiwyg\">\n            \n\n<h4 style=\"color: #41b6e6\">In young children with severe new-onset seizures\/epilepsy:<\/h4>\n\n<ul class=\"no-left\">\n<li class=\"bdr_bottom\">Epilepsy syndromes<\/li>\n<li class=\"bdr_bottom\">In particular, those associated with myoclonic seizures\n<ul class=\"sub_sublist\">\n<li>Myoclonic-astatic epilepsy (Doose syndrome)<\/li>\n<li>Benign myoclonic epilepsies<\/li>\n<li>Progressive myoclonic epilepsies (eg, Dravet, Lafora disease, Unverricht-Lundborg disease, myoclonic epilepsy with ragged-red fibers)<\/li>\n<\/ul>\n<ul class=\"sub_list\">\n<li>Other epilepsy syndrome (eg, Lennox-Gastaut syndrome, channelopathies such as <em>SCN1A or SCN2A<\/em>)<\/li>\n<\/ul>\n<\/li>\n<li class=\"bdr_bottom\">Other metabolic syndromes that may be associated with myoclonic epilepsy (eg, sialidosis and galactosialidosis)<\/li>\n<\/ul>\n\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a019df5cb4f2\" class=\"block wrapped-content\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<figure id=\"acf-block-6a019df5cb530\">\n    <div class=\"image image-align-left\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/cln2\/wp-content\/uploads\/sites\/3\/2026\/05\/hr-1900x2.png\" alt=\"\" \/>            <\/div>\n    <\/figure>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a019df5cb376\" class=\"block wrapped-content\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-6a019df5cb4b4\" class=\"block-wysiwyg\">\n            \n\n<h4 style=\"color: #41b6e6\">In children with progressive neurodegeneration, who have be en diagnosed with:<\/h4>\n\n<ul class=\"no-left\">\n<li class=\"bdr_bottom\">Gray matter diseases associated with dementia and epilepsy:\n<ul class=\"sub_list\">\n<li>Other NCL disorders, particularly late-infantile onset variants of CLN5, CLN6, CLN7, CLN8, CLN14<\/li>\n<li>Gangliosidoses (eg, Tay-Sachs disease)<\/li>\n<li>Mucopolysaccharidoses (eg, type III)<\/li>\n<li>Mucolipidoses<\/li>\n<li>Niemann-Pick C disease<\/li>\n<li>Peroxisomal disorders<\/li>\n<li>Mitochondrial disorders<\/li>\n<\/ul>\n<\/li>\n<li>White matter diseases associated with motor function and significant abnormality on MRI:\n<ul class=\"sub_list\">\n<li>Leukodystrophies, in particular:\n<ul class=\"sub_sublist\">\n<li>Krabbe disease<\/li>\n<li>Metachromatic leukodystrophy<\/li>\n<li>Adrenoleukodystrophy<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a019df5cb4f2\" class=\"block wrapped-content\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<figure id=\"acf-block-6a019df5cb530\">\n    <div class=\"image image-align-left\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/cln2\/wp-content\/uploads\/sites\/3\/2026\/05\/hr-1900x2.png\" alt=\"\" \/>            <\/div>\n    <\/figure>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a019df5cb376\" class=\"block wrapped-content\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-6a019df5cb4b4\" class=\"block-wysiwyg\">\n            \n\n<h4 style=\"color: #41b6e6\">Other progressive pediatric brain disorders should be excluded:<sup>1<\/sup><\/h4>\n\n<ul class=\"no-left\">\n<li>Inflammation and infections<\/li>\n<li>Tumors<\/li>\n<li>Hydrocephalus<\/li>\n<li>Toxic disturbances<\/li>\n<\/ul>\n\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a019df5cb4f2\" class=\"block wrapped-content\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<figure id=\"acf-block-6a019df5cb530\">\n    <div class=\"image image-align-left\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/cln2\/wp-content\/uploads\/sites\/3\/2026\/05\/hr-1900x2.png\" alt=\"\" \/>            <\/div>\n    <\/figure>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a01c0140f407\" class=\"block boxed-content boxed-content-no-bg\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"box\">\n\t\t\t\t\t\t\t\t\n<div id=\"acf-block-6a01c0140f47a\" class=\"image-text-block\">\n            <div class=\"image-block small\">\n            <figure>\n                <div class=\"image image-rounded\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/cln2\/wp-content\/uploads\/sites\/3\/2026\/05\/behind-seizure-logo.png?v=0.4\" alt=\"\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                            \n\n<p>BioMarin has partnered with Invitae\/Lacorp to bring you the Behind the Seizure<sup>\u00ae<\/sup> program\u2014a no-cost epilepsy gene panel testing program to help health care providers diagnose CLN2 disease earlier.<\/p>\n\n\n<p>In as little as 2 weeks, an epilepsy gene panel test can bring you and your eligible patients closer to identifying if there is a genetic cause <strong><em>behind the seizure.<\/em><\/strong><\/p>\n<p><strong>Visit <a href=\"https:\/\/www.invitae.com\/sponsored-testing\/behind-the-seizure\" target=\"_blank\" rel=\"noopener\">Behind the Seizure<\/a> to learn more and to order a test.<\/strong><\/p>\n                    <\/div>\n<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-6a019df5cb4f2\" class=\"block wrapped-content\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<figure id=\"acf-block-6a019df5cb530\">\n    <div class=\"image image-align-left\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/cln2\/wp-content\/uploads\/sites\/3\/2026\/05\/hr-1900x2.png\" alt=\"\" \/>            <\/div>\n    <\/figure>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a01c6ebbd5bc\" class=\"block references\">\n    <div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t    \t\t\t    <h4>References:\n<\/h4>\n\t\t\t\t\t\t                <ol>\n                                                                                                                        <li><span>Chang M, Cooper JD, Davidson BL, et al. CLN2. In: Mole S, Williams R, and Goebel H, eds. <em>The neuronal ceroid lipofuscinoses (Batten Disease)<\/em>. 2nd ed. Oxford, United Kingdom: Oxford University Press; 2011:80-109.\n<\/span><\/li>\n                                                            <\/ol>\n\t\t\t\t\t<\/div>\n\t<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":2,"featured_media":0,"parent":26,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-30","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.2 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>CLN2 Connection | Differential Diagnosis | HCP BioMarin<\/title>\n<meta name=\"description\" content=\"Explore the differential diagnosis of CLN2 disease, including conditions with similar clinical features, to help support accurate and timely diagnosis.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/hcp.biomarin.com\/en-us\/cln2\/identification-diagnosis\/differential-diagnosis\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"CLN2 Connection | Differential Diagnosis | HCP BioMarin\" \/>\n<meta property=\"og:description\" content=\"Explore the differential diagnosis of CLN2 disease, including conditions with similar clinical features, to help support accurate and timely diagnosis.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/hcp.biomarin.com\/en-us\/cln2\/identification-diagnosis\/differential-diagnosis\/\" \/>\n<meta property=\"og:site_name\" content=\"BMRN CLN2 DSE HCP EN-US\" \/>\n<meta property=\"article:modified_time\" content=\"2026-09-15T14:34:41+00:00\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/hcp.biomarin.com\\\/en-us\\\/cln2\\\/identification-diagnosis\\\/differential-diagnosis\\\/\",\"url\":\"https:\\\/\\\/hcp.biomarin.com\\\/en-us\\\/cln2\\\/identification-diagnosis\\\/differential-diagnosis\\\/\",\"name\":\"CLN2 Connection | Differential Diagnosis | HCP BioMarin\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/hcp.biomarin.com\\\/en-us\\\/cln2\\\/#website\"},\"datePublished\":\"2026-05-07T10:43:30+00:00\",\"dateModified\":\"2026-09-15T14:34:41+00:00\",\"description\":\"Explore the differential diagnosis of CLN2 disease, including conditions with similar clinical features, to help support accurate and timely diagnosis.\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/hcp.biomarin.com\\\/en-us\\\/cln2\\\/identification-diagnosis\\\/differential-diagnosis\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/hcp.biomarin.com\\\/en-us\\\/cln2\\\/identification-diagnosis\\\/differential-diagnosis\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/hcp.biomarin.com\\\/en-us\\\/cln2\\\/identification-diagnosis\\\/differential-diagnosis\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/hcp.biomarin.com\\\/en-us\\\/cln2\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Identification &amp; 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