{"id":86065,"date":"2024-11-14T13:51:16","date_gmt":"2024-11-14T04:51:16","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/dandy_walker\/"},"modified":"2025-10-10T17:29:35","modified_gmt":"2025-10-10T08:29:35","slug":"dandy_walker","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/dandy_walker\/?lang=en","title":{"rendered":"Dandy\u2011Walker Syndrome"},"content":{"rendered":"\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/dandy_walker\/?lang=en\/#Alternate_Names_of_the_Disease\" >Alternate Names of the Disease<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/dandy_walker\/?lang=en\/#Overview_of_the_Disorder\" >Overview of the Disorder<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/dandy_walker\/?lang=en\/#Relation_to_Dandy%E2%80%91Walker_Complex\" >Relation to Dandy\u2011Walker Complex<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/dandy_walker\/?lang=en\/#Etiology_and_Diagnostic_Methods\" >Etiology and Diagnostic Methods<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/dandy_walker\/?lang=en\/#Etiology\" >Etiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/dandy_walker\/?lang=en\/#Diagnostic_Methods\" >Diagnostic Methods<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/dandy_walker\/?lang=en\/#Symptoms_and_Management\" >Symptoms and Management<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/dandy_walker\/?lang=en\/#Major_Symptoms\" >Major Symptoms<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/dandy_walker\/?lang=en\/#Management_Treatment\" >Management \/ Treatment<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/dandy_walker\/?lang=en\/#Prognosis_and_Outlook\" >Prognosis and Outlook<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Alternate_Names_of_the_Disease\"><\/span><strong>Alternate Names of the Disease<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong><br><\/strong> Dandy\u2011Walker syndrome is known in English as <em>Dandy\u2011Walker syndrome<\/em> or <em>Dandy\u2011Walker malformation<\/em>.<br>In a broader concept, the terms <em>Dandy\u2011Walker complex<\/em> or <em>Dandy\u2011Walker continuum<\/em> are also used to indicate that cerebellar and ventricular developmental abnormalities can exist on a spectrum from mild to severe.<br>The name of this disorder originates from American neurologist Walter Dandy, who first reported the condition in 1914, and from Arthur Walker, who in 1942 provided a more detailed description.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Overview_of_the_Disorder\"><\/span><strong>Overview of the Disorder<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Dandy\u2011Walker Syndrome (DWS) is a congenital brain malformation characterized primarily by abnormal development of the cerebellum and its surrounding structures (the fourth ventricle and the posterior cranial fossa). As reported by Arthur Walker in 1942, this disorder is important in pediatric neurology and neurosurgery because it significantly affects neural development and cerebrospinal fluid circulation.<\/p>\n\n\n\n<p>The hallmarks of DWS are three principal structural abnormalities:<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>Hypoplasia or absence of the cerebellar vermis<\/strong><strong><br><\/strong> The vermis, the central structure connecting the two hemispheres of the cerebellum, may not form normally, which can impair coordination and balance.<br><\/li>\n\n\n\n<li><strong>Cystic enlargement of the fourth ventricle<\/strong><strong><br><\/strong> The fourth ventricle is abnormally enlarged, forming a cystic structure in the posterior fossa, interfering with normal cerebrospinal fluid circulation.<br><\/li>\n\n\n\n<li><strong>Enlargement of the posterior fossa with upward displacement of structures<\/strong><strong><br><\/strong> The bony space behind the brain is expanded, displacing nearby venous structures or the tentorium of the cerebellum upward.<br><\/li>\n<\/ol>\n\n\n\n<p>Such anatomical changes often cause cerebrospinal fluid circulation disturbances (hydrocephalus). It is estimated that 70\u201390% of cases are complicated by hydrocephalus. <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> symptoms may include vomiting, headache, and ocular motility abnormalities caused by increased intracranial pressure.<br>DWS may occur in isolation, but in many cases it is associated with other brain malformations or systemic anomalies and genetic disorders. For example, it may coexist with corpus callosum agenesis, gray matter abnormalities, cardiac defects, or urinary system malformations. These comorbidities strongly influence severity and treatment planning.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Relation_to_Dandy%E2%80%91Walker_Complex\"><\/span><strong>Relation to Dandy\u2011Walker Complex<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Rather than being a single entity, DWS is viewed as part of the broader <em>Dandy\u2011Walker Complex<\/em>. Within that spectrum are:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Dandy\u2011Walker malformation (DWM)<\/strong>: The classic, severe form with all three defining features present<br><\/li>\n\n\n\n<li><strong>Dandy\u2011Walker variant (DWV)<\/strong>: Partial involvement (e.g. vermis hypoplasia or ventricular enlargement) but without clear posterior fossa enlargement \u2014 a milder form<br><\/li>\n\n\n\n<li><strong>Mega cisterna magna<\/strong>: The fourth ventricle is normal, but the cisterna magna (the CSF space beneath the cerebellum) is enlarged<br><\/li>\n\n\n\n<li><strong>Blake\u2019s pouch cyst<\/strong>: A remnant pouch that failed to regress during fetal development, forming a cyst; sometimes difficult to distinguish from DWS<br><\/li>\n<\/ul>\n\n\n\n<p>Thus, DWS is part of a <strong>spectrum (continuum)<\/strong> of anomalies, and its manifestations range broadly from severe developmental impairment to nearly asymptomatic cases who can study and work.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Etiology_and_Diagnostic_Methods\"><\/span><strong>Etiology and Diagnostic Methods<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Etiology\"><\/span><strong>Etiology<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>The precise cause of Dandy\u2011Walker syndrome is not fully understood, but fetal abnormal brain development is thought to play a key role. Main contributing factors may include:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Abnormal neurogenesis during the cerebellar formation period (early to mid gestation)<br><\/li>\n\n\n\n<li>Maternal infections (e.g. rubella, cytomegalovirus) or exposure to drugs (e.g. warfarin)<br><\/li>\n\n\n\n<li>Genetic factors (mutations in genes such as ZIC1, ZIC4, FOXC1)<br><\/li>\n\n\n\n<li>Coexistence of congenital chromosomal anomalies (e.g. trisomy 18)<br><\/li>\n<\/ul>\n\n\n\n<p>In many cases, multiple factors act in combination rather than a single cause.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Diagnostic_Methods\"><\/span><strong>Diagnostic Methods<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Prenatal diagnosis<\/strong>: In the mid\u2011pregnancy period, fetal ultrasound may reveal posterior fossa enlargement or cerebellar abnormalities; fetal MRI may be used for detailed evaluation.<br><\/li>\n\n\n\n<li><strong>Postnatal imaging<\/strong>: MRI or CT in the neonatal\/infant period can reveal cerebellar hypoplasia, cysts, and ventricular enlargement.<br><\/li>\n\n\n\n<li><strong>Genetic and chromosomal testing<\/strong>: Because DWS often coexists with chromosomal abnormalities, genetic counseling and chromosomal or gene testing may be indicated.<br><\/li>\n\n\n\n<li><strong>Clinical observation<\/strong>: Signs such as macrocephaly, developmental delays, nystagmus, seizures, and abnormal muscle tone may help support the diagnosis.<br><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Symptoms_and_Management\"><\/span><strong>Symptoms and Management<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Major_Symptoms\"><\/span><strong>Major Symptoms<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Symptoms vary depending on severity and comorbid conditions. Representative manifestations include:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Macrocephaly, headache, vomiting, irritability (due to hydrocephalus)<br><\/li>\n\n\n\n<li>Developmental delays (motor, language)<br><\/li>\n\n\n\n<li>Gait instability, impaired coordination (ataxia)<br><\/li>\n\n\n\n<li>Nystagmus, muscle weakness<br><\/li>\n\n\n\n<li>Seizures<br><\/li>\n\n\n\n<li>Associated anomalies: structural defects of heart, urinary tract, limbs, etc.<br><\/li>\n<\/ul>\n\n\n\n<p>In mild cases symptoms may be subtle and only become evident later in development.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Management_Treatment\"><\/span><strong>Management \/ Treatment<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Because there is currently no cure for the malformation itself, care focuses on symptomatic and supportive treatment:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Surgical treatment of hydrocephalus<\/strong><strong><br><\/strong> \u2002Procedures such as ventriculoperitoneal shunting or cyst\u2011to\u2011peritoneal shunting are used to restore cerebrospinal fluid flow. Shunt systems require regular maintenance and monitoring for complications.<br><\/li>\n\n\n\n<li><strong>Rehabilitation and early intervention<\/strong><strong><br><\/strong> \u2002Physical therapy, occupational therapy, and speech therapy are combined to support motor and cognitive development. <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> intervention in infancy is crucial.<br><\/li>\n\n\n\n<li><strong>Seizure control<\/strong><strong><br><\/strong> \u2002Antiepileptic drugs are used to manage seizures, with periodic EEG monitoring and adjustment.<br><\/li>\n\n\n\n<li><strong>Developmental support and educational assistance<\/strong><strong><br><\/strong> \u2002When intellectual delays are evident, special education support or therapy center services are provided, with emphasis on maximizing the individual\u2019s potential.<br><\/li>\n\n\n\n<li><strong>Management of associated anomalies<\/strong><strong><br><\/strong> \u2002If cardiac, urogenital, or other organ defects coexist, treatment should be coordinated with the respective specialists.<br><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Prognosis_and_Outlook\"><\/span><strong>Prognosis and Outlook<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>The prognosis for Dandy\u2011Walker syndrome varies greatly by individual. The following factors are particularly influential:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Whether hydrocephalus is effectively managed<br><\/li>\n\n\n\n<li>The extent of cerebellar and other brain malformations<br><\/li>\n\n\n\n<li>The degree of intellectual development and seizure severity<br><\/li>\n\n\n\n<li>The timeliness and adequacy of rehabilitation and therapeutic interventions<br><\/li>\n<\/ul>\n\n\n\n<p><strong>Medical outlook<\/strong><strong><br><\/strong> In severe cases, substantial intellectual disability, motor impairment, frequent seizures, and associated anomalies may necessitate extensive lifelong support. Conversely, in mild cases with no hydrocephalus and limited cerebellar involvement, individuals may pursue education and employment. There are many reports of individuals living into adulthood with appropriate medical care and support.<\/p>\n\n\n\n<p><strong>Social life and welfare support<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Based on individual daily living capacities (ADLs), use of day programs or employment support is possible<br><\/li>\n\n\n\n<li>In school settings, collaboration between special education and mainstream institutions is fundamental<br><\/li>\n\n\n\n<li>In adulthood, some may live in welfare settings or group homes if needed<br><\/li>\n\n\n\n<li>Establishment of family support systems from early on, with planning that includes \u201clife after parents are gone,\u201d is vitally important<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"Alternate Names of t&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/dandy_walker\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":117050,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-86065","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/86065","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/101"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=86065"}],"version-history":[{"count":4,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/86065\/revisions"}],"predecessor-version":[{"id":117875,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/86065\/revisions\/117875"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/117050"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=86065"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=86065"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=86065"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}