{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T20:04:51Z","timestamp":1774728291965,"version":"3.50.1"},"reference-count":31,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2015,6,22]],"date-time":"2015-06-22T00:00:00Z","timestamp":1434931200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Grant-in-Aid for Scientific Research (C) from the Ministry of Education, Culture, Sports, Science and Technology of Japan","award":["#25460405"],"award-info":[{"award-number":["#25460405"]}]},{"name":"Japan Foundation for Pediatric Research"},{"name":"Medical Research Encouragement Prize of The Japan Medical Association"},{"name":"Research on Intractable Diseases, Ministry of Health, Labour and Welfare, Japan"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>Loeys\u2010Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder, caused by heterozygous mutations in <jats:italic>TGFBR1<\/jats:italic> or <jats:italic>TGFBR2<\/jats:italic> and characterized by vascular complications (cerebral, thoracic, and abdominal arterial aneurysms and\/or dissections) and skeletal manifestations. We here report the first patient with LDS presenting with reversible cerebral vasoconstriction syndrome (RCVS), a clinico\u2010radiological condition characterized by recurrent thunderclap headaches, with or without neurological symptoms, and reversible vasoconstriction of cerebral arteries. The patient was a 9\u2010year\u2010old boy with a heterozygous <jats:italic>TGFBR2<\/jats:italic> mutation, manifesting camptodactyly, talipes equinovarus, and lamboid craniosynostosis. He complained of severe recurrent headaches 2 months after total aortic replacement for aortic root dilatation and a massive Stanford type B aortic dissection. A thoracic CT scan revealed a left subclavian artery dissection. Brain MRI and MRA detected bilateral internal carotid artery constriction along with a cortical subarachnoid hemorrhage without intracranial aneurysms. Subsequently, he developed visual disturbance and a generalized seizure associated with multiple legions of cortical and subcortical increased signals including the left posterior lobe, consistent with posterior reversible encephalopathy syndrome (PRES), a condition characterized by headaches, visual disorders, seizures, altered mentation, consciousness disturbances, focal neurological signs, and vasogenic edema predominantly in the white matter of the posterior lobe. Vasoconstriction of the internal carotid artery was undetectable 2 months later, and he was diagnosed as having RCVS. Endothelial dysfunction, associated with impaired TGF\u2010\u03b2 signaling, might have been attributable to the development of RCVS and PRES. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37202","type":"journal-article","created":{"date-parts":[[2015,6,22]],"date-time":"2015-06-22T05:25:44Z","timestamp":1434950744000},"page":"2435-2439","source":"Crossref","is-referenced-by-count":19,"title":["Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys\u2010Dietz syndrome"],"prefix":"10.1002","volume":"167","author":[{"given":"Yohei","family":"Akazawa","sequence":"first","affiliation":[{"name":"Department of Pediatrics Shinshu University School of Medicine Matsumoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuji","family":"Inaba","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shinshu University School of Medicine Matsumoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akira","family":"Hachiya","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shinshu University School of Medicine Matsumoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriko","family":"Motoki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shinshu University School of Medicine Matsumoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoshi","family":"Matsuzaki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shinshu University School of Medicine Matsumoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Minatoya","sequence":"additional","affiliation":[{"name":"Department of Vascular Surgery National Cerebral and Cardiovascular Center Suita Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takayuki","family":"Morisaki","sequence":"additional","affiliation":[{"name":"Department of Bioscience and Genetics National Cerebral and Cardiovascular Center Research Institute Suita Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroko","family":"Morisaki","sequence":"additional","affiliation":[{"name":"Department of Bioscience and Genetics National Cerebral and Cardiovascular Center Research Institute Suita Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenjiro","family":"Kosaki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Keio University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoki","family":"Kosho","sequence":"additional","affiliation":[{"name":"Department Medical Genetics Shinshu University School of Medicine Matsumoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenichi","family":"Koike","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shinshu University School of Medicine Matsumoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,6,22]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2348"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-146-1-200701020-00007"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1177\/1756285610361795"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1586\/ern.11.112"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bjp.0707181"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm256"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.lpm.2009.09.009"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(12)70135-7"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI69666"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1124287"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2349"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1511"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa055695"},{"key":"e_1_2_5_15_1","unstructured":"LoeysBL DietzHC.2013. Loeys\u2010Dietz syndrome. In: S Pagon F RA S Adam F MP S Bird F TD S et S al. C editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington Seattle; 1993\u20132015. Available from:http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1116\/. Accessed Jan 20 2015."},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.11"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mehy.2014.02.022"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182a2cbe2"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11916-014-0443-2"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/neurintsurg-2012-010521.rep"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.111.248161"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.sult.2013.09.007"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2011.68"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1177\/159101991101700415"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.STR.16.4.734"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1476-5381.2009.00439.x"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00380-013-0393-3"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00380-013-0393-3"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.744"},{"key":"e_1_2_5_30_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100382"},{"key":"e_1_2_5_31_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.99.7.909"},{"key":"e_1_2_5_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.vph.2009.10.005"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37202","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37202","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37202","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T11:09:49Z","timestamp":1694344189000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37202"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,6,22]]},"references-count":31,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2015,10]]}},"alternative-id":["10.1002\/ajmg.a.37202"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37202","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,6,22]]}}}