{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T23:46:24Z","timestamp":1777506384610,"version":"3.51.4"},"reference-count":58,"publisher":"SAGE Publications","issue":"10","license":[{"start":{"date-parts":[[2020,1,30]],"date-time":"2020-01-30T00:00:00Z","timestamp":1580342400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Acta Radiol"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Anhidrotic ectodermal dysplasia (AED) is a rare, mostly X-linked recessive genodermatosis, characterized by congenital defects of ectodermal derivative structures as the central nervous system (CNS) is primarily ectodermal in origin.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>To evaluate CNS variations and abnormalities in AED.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Material and Methods<\/jats:title>\n                    <jats:p>A retrospective analysis was made of the neurological and neuroimaging findings of 17 children (12 boys, 5 girls; median age\u2009=\u20098 years; age range\u2009=\u20092\u201314 years) diagnosed with AED in our pediatric clinics during 2008\u20132016. The pattern of CNS variation and abnormalities were evaluated by comparing of these findings with an age- and gender-matched healthy control group with no family history.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Of the 17 AED cases identified on the basis of neuroimaging findings, 6 (35.3%) were seen to be normal. Associated CNS variation and abnormalities including cavum septum pellucidum (35.3%), callosal dysgenesis (11.8%), prominent Virchow\u2013Robin spaces (64.7%), cortical sulcal dilation (41.1%), mega cisterna magna (35.3%), focal cortical dysplasia (11.8%), and delayed myelination (58.8%) were observed in 11 (64.7%) children with AED.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>AED suggests a spectrum of CNS variation and abnormalities, presenting with neurological and neuroimaging findings, demonstrated in the embryonic surface- and neuro-ectoderm derived structures. The results of this study suggest that CNS variation and abnormalities might be associated with AED.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/0284185120901510","type":"journal-article","created":{"date-parts":[[2020,1,30]],"date-time":"2020-01-30T23:47:57Z","timestamp":1580428077000},"page":"1377-1387","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Central nervous system variations and abnormalities in anhidrotic ectodermal dysplasia (AED): neuroimaging findings"],"prefix":"10.1177","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4363-5861","authenticated-orcid":false,"given":"Abdurrahim","family":"Dusak","sequence":"first","affiliation":[{"name":"Department of Radiology, Uludag University, School of Medicine, Bursa, 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