{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T20:37:45Z","timestamp":1773693465732,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,8,4]],"date-time":"2025-08-04T00:00:00Z","timestamp":1754265600000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous syndrome. NF1\u2010related vasculopathy represents a clinically significant yet underrecognized complication. Moyamoya syndrome, a rare cerebrovascular manifestation of NF1, has been rarely reported in the paediatric population. Epilepsy and hydrocephalus are also uncommon neurological manifestations of NF1. However, the co\u2010occurrence of the above three symptoms in NF1 cases is rarely found.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Here, we report a 2\u2010year\u2010old boy with moyamoya syndrome, epilepsy and hydrocephalus caused by de novo\n                      <jats:italic>NF1<\/jats:italic>\n                      pathogenetic variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      He experienced a 1\u2010week history of paroxysmal hands weakness and frequent seizures. Physical examination showed macrocephaly (head circumference was 52\u2009cm), reduced distal muscle strength in both upper limbs (grade III) and the presence of 6 or more caf\u00e9\u2010au\u2010lait macules (CALMs). Brain magnetic resonance imaging (MRI) showed moyamoya syndrome and hydrocephalus. Electroencephalographic (EEG) monitored two episodes of electrical persistent seizures and one focal motor seizure. Trio whole exome sequencing (Trio\u2010WES) demonstrated a de novo and heterozygous\n                      <jats:italic>NF1<\/jats:italic>\n                      missense mutation (c.5488C\u2009&gt;\u2009G, p. Arg1830Gly). The final diagnoses were \u2018neurofibromatosis type 1, moyamoya syndrome, epilepsy, and hydrocephalus\u2019. Following surgical intervention and treatment with levetiracetam, the patient achieved normal muscle strength and was seizure\u2010free.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>When articles about complications of NF1 are placed in a separate category, little is written about NF\u20101\u2010related moyamoya syndrome, hydrocephalus and epilepsy simultaneously. This report describes a case of NF1 with moyamoya syndrome combined with hydrocephalus and epilepsy, which could enhance clinicians' understanding of the neurological manifestations of NF1 and provide reference value for clinical practice.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jdn.70038","type":"journal-article","created":{"date-parts":[[2025,8,4]],"date-time":"2025-08-04T13:20:52Z","timestamp":1754313652000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Moyamoya Syndrome, Epilepsy and Hydrocephalus in Neurofibromatosis Type 1"],"prefix":"10.1002","volume":"85","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5643-4260","authenticated-orcid":false,"given":"Fen","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Neurology Children's Hospital Affiliated to Shandong University\/Jinan Children's Hospital  Jinan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xizan","family":"Yue","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Children's Hospital Affiliated to Shandong University\/Jinan Children's Hospital  Jinan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guangyu","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Children's Hospital Affiliated to Shandong University\/Jinan Children's Hospital  Jinan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongwei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's Hospital Affiliated to Shandong University\/Jinan Children's Hospital  Jinan China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,8,4]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381\u2010012\u20101948\u20109"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010019\u20101067\u20108"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381\u2010020\u201004710\u20107"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2022.05.013"},{"issue":"2","key":"e_1_2_10_6_1","first-page":"713","article-title":"Neurofibromatosis Type 1 Associated With Moyamoya Syndrome. Case Report and Review of the Literature","volume":"60","author":"Budi\u015fteanu M.","year":"2019","journal-title":"Romanian Journal of Morphology and Embryology = Revue Roumaine de Morphologie et Embryologie"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1080\/21622965.2019.1665292"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474\u20104422(14)70063\u20108"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.63.11.1653"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2021.785982"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41388\u2010021\u201002156\u2010y"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381\u2010020\u201004719\u2010y"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.3390\/cancers13246336"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2017.00087"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/1824\u20107288\u201040\u201059"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2020.07.105"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedneo.2022.09.008"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/CM9.0000000000003203"}],"container-title":["International Journal of Developmental Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.70038","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jdn.70038","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.70038","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T04:56:40Z","timestamp":1773032200000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jdn.70038"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8]]},"references-count":17,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,8]]}},"alternative-id":["10.1002\/jdn.70038"],"URL":"https:\/\/doi.org\/10.1002\/jdn.70038","archive":["Portico"],"relation":{},"ISSN":["0736-5748","1873-474X"],"issn-type":[{"value":"0736-5748","type":"print"},{"value":"1873-474X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8]]},"assertion":[{"value":"2025-05-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-28","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-08-04","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70038"}}