{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T09:11:34Z","timestamp":1792141894893,"version":"4.4.0"},"reference-count":26,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,7,5]],"date-time":"2023-07-05T00:00:00Z","timestamp":1688515200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of the Child Neurology Society"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Kleefstra syndrome (KS) is a rare genetic condition affecting the euchromatic histone methyltransferase 1 (<jats:italic>EHMT1<\/jats:italic>) gene, typically presenting with developmental delay, generalized hypotonia, distinctive facial dysmorphisms, and neuropsychiatric anomalies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We collected longitudinal magnetic resonance imaging (MRI) data of a child with KS and cerebrospinal fluid (CSF) dissection over 16 years and reviewed the literature focusing on articles reporting MRI findings in KS based on a PubMed search.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>An 18\u2010year\u2010old female with KS presented with developmental delay at age 18 months and seizures at age 10 years. At age 23 months, MRI showed ventriculomegaly. Follow\u2010up MRI nine years later showed CSF dissection from the right lateral ventricle, which progressed similarly in the contralateral side 3 years later and stabilized over time. To date, only 20 articles report MRI findings from 49 patients with KS. The brain imaging findings range from normal (about 25%) to various abnormalities, including ventriculomegaly, white matter signal abnormalities, and dysmorphic corpus callosum and brainstem structures. CSF dissection was not found in any cases with white matter or other abnormalities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>CSF dissection may be a rare neuroimaging finding of KS. Its etiology is unclear, but we speculate that epigenetic mutations could indirectly affect the development and integrity of ependymal cell lining along the ventricles. Alternatively, the long\u2010standing hydrocephalus may have caused the development of pseudodiverticula and subsequent CSF dissection.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cns3.20032","type":"journal-article","created":{"date-parts":[[2023,7,5]],"date-time":"2023-07-05T13:02:12Z","timestamp":1688562132000},"page":"244-249","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Longitudinal imaging in Kleefstra syndrome\u2014Brief report and literature review"],"prefix":"10.1002","volume":"1","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3031-5113","authenticated-orcid":false,"given":"Giovanni","family":"Castellucci","sequence":"first","affiliation":[{"name":"Detroit Medical Center, Children's Hospital of Michigan Central Michigan University Detroit Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Csaba","family":"Juhasz","sequence":"additional","affiliation":[{"name":"Detroit Medical Center, Children's Hospital of Michigan Central Michigan University Detroit Michigan USA"},{"name":"Department of Pediatrics and Neurology Wayne State University School of Medicine Detroit Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aimee F.","family":"Luat","sequence":"additional","affiliation":[{"name":"Detroit Medical Center, Children's Hospital of Michigan Central Michigan University Detroit Michigan USA"},{"name":"Department of Pediatrics and Neurology Wayne State University School of Medicine Detroit Michigan USA"},{"name":"Department of Pediatrics Central Michigan University Mt. Pleasant Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,7,5]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz174"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01607.x"},{"key":"e_1_2_7_4_1","volume-title":"GeneReviews\u00ae","author":"Kleefstra T","year":"2023"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.268"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30136"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.028258"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34186"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21523"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000335648"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.05.003"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-014-0074-7"},{"issue":"4","key":"e_1_2_7_13_1","first-page":"431","article-title":"Twins with Kleefstra syndrome due to chromosome 9q34.3 microdeletion","volume":"26","author":"Atik T","year":"2015","journal-title":"Genet Counsel"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-016-0231-2"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000058"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1155\/2016\/3056053"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-016-2482-4"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M116.770545"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1159\/000494532"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1155\/2018\/4283267"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.1379"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2020.00710"},{"issue":"4","key":"e_1_2_7_23_1","first-page":"S76","article-title":"Kleefstra syndrome","volume":"32","author":"Aydin H","year":"2022","journal-title":"J Coll Phys Surg Pak"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep35756"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2004.07.006"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13064-018-0099-4"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1177\/1971400917712530"}],"container-title":["Annals of the Child Neurology Society"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cns3.20032","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,20]],"date-time":"2025-08-20T05:16:57Z","timestamp":1755667017000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/cns3.20032"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,5]]},"references-count":26,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["10.1002\/cns3.20032"],"URL":"https:\/\/doi.org\/10.1002\/cns3.20032","archive":["Portico"],"relation":{},"ISSN":["2831-3267","2831-3267"],"issn-type":[{"value":"2831-3267","type":"print"},{"value":"2831-3267","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,5]]},"assertion":[{"value":"2023-04-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-10","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-05","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}