Michiel de Jong , Jolanda Schieving , Bozena Goraj
{"title":"努南综合征患者MRI上明显的脑内病变","authors":"Michiel de Jong , Jolanda Schieving , Bozena Goraj","doi":"10.1016/j.ejrex.2011.01.005","DOIUrl":null,"url":null,"abstract":"<div><p><span>Noonan syndrome is an </span>autosomal dominant<span> condition with a wide variation in phenotypic expression. We report a case of a young man diagnosed with Noonan syndrome on the grounds of the classical PTPN-11 mutation, whose brain MRI performed for the evaluation of progressive gait-disorders showed remarkable intra-cerebral lesions.</span></p></div>","PeriodicalId":100506,"journal":{"name":"European Journal of Radiology Extra","volume":"78 1","pages":"Pages e17-e19"},"PeriodicalIF":0.0000,"publicationDate":"2011-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ejrex.2011.01.005","citationCount":"7","resultStr":"{\"title\":\"Remarkable intra-cerebral lesions on MRI in a patient with Noonan syndrome\",\"authors\":\"Michiel de Jong , Jolanda Schieving , Bozena Goraj\",\"doi\":\"10.1016/j.ejrex.2011.01.005\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p><span>Noonan syndrome is an </span>autosomal dominant<span> condition with a wide variation in phenotypic expression. We report a case of a young man diagnosed with Noonan syndrome on the grounds of the classical PTPN-11 mutation, whose brain MRI performed for the evaluation of progressive gait-disorders showed remarkable intra-cerebral lesions.</span></p></div>\",\"PeriodicalId\":100506,\"journal\":{\"name\":\"European Journal of Radiology Extra\",\"volume\":\"78 1\",\"pages\":\"Pages e17-e19\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2011-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/j.ejrex.2011.01.005\",\"citationCount\":\"7\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"European Journal of Radiology Extra\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S157146751100006X\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"European Journal of Radiology Extra","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S157146751100006X","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Remarkable intra-cerebral lesions on MRI in a patient with Noonan syndrome
Noonan syndrome is an autosomal dominant condition with a wide variation in phenotypic expression. We report a case of a young man diagnosed with Noonan syndrome on the grounds of the classical PTPN-11 mutation, whose brain MRI performed for the evaluation of progressive gait-disorders showed remarkable intra-cerebral lesions.