{"title":"努南综合征罕见的神经系统表现及其治疗--病例报告。","authors":"Shalvi Mahajan, Vidhya Narayanan, Vinitha Narayan, Aparna Depuru","doi":"10.1055/s-0043-1772757","DOIUrl":null,"url":null,"abstract":"<p><p>Although Noonan syndrome is a relatively common congenital disorder with autosomal dominant inheritance, its association with cerebrovascular anomalies is rare. We report a case of a 20-year-old with Noonan syndrome with cerebrovascular aneurysm, who underwent successful endovascular coiling. Only four cases of cerebrovascular aneurysms in Noonan syndrome have been reported in the literature so far. To the best of our knowledge, this is only the fifth reported case and the first one that has been treated successfully with endovascular coiling. We hereby discuss the management of this case, which had several comorbidities like congenital heart disease and craniovertebral junction anomaly.</p>","PeriodicalId":94300,"journal":{"name":"Asian journal of neurosurgery","volume":"19 1","pages":"94-96"},"PeriodicalIF":0.0000,"publicationDate":"2024-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11093631/pdf/","citationCount":"0","resultStr":"{\"title\":\"A Rare Neurological Presentation of Noonan Syndrome and Its Management-A Case Report.\",\"authors\":\"Shalvi Mahajan, Vidhya Narayanan, Vinitha Narayan, Aparna Depuru\",\"doi\":\"10.1055/s-0043-1772757\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Although Noonan syndrome is a relatively common congenital disorder with autosomal dominant inheritance, its association with cerebrovascular anomalies is rare. We report a case of a 20-year-old with Noonan syndrome with cerebrovascular aneurysm, who underwent successful endovascular coiling. Only four cases of cerebrovascular aneurysms in Noonan syndrome have been reported in the literature so far. To the best of our knowledge, this is only the fifth reported case and the first one that has been treated successfully with endovascular coiling. We hereby discuss the management of this case, which had several comorbidities like congenital heart disease and craniovertebral junction anomaly.</p>\",\"PeriodicalId\":94300,\"journal\":{\"name\":\"Asian journal of neurosurgery\",\"volume\":\"19 1\",\"pages\":\"94-96\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-03-26\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11093631/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Asian journal of neurosurgery\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1055/s-0043-1772757\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/3/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Asian journal of neurosurgery","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1055/s-0043-1772757","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/3/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
A Rare Neurological Presentation of Noonan Syndrome and Its Management-A Case Report.
Although Noonan syndrome is a relatively common congenital disorder with autosomal dominant inheritance, its association with cerebrovascular anomalies is rare. We report a case of a 20-year-old with Noonan syndrome with cerebrovascular aneurysm, who underwent successful endovascular coiling. Only four cases of cerebrovascular aneurysms in Noonan syndrome have been reported in the literature so far. To the best of our knowledge, this is only the fifth reported case and the first one that has been treated successfully with endovascular coiling. We hereby discuss the management of this case, which had several comorbidities like congenital heart disease and craniovertebral junction anomaly.