{"title":"结节性硬化症伴典型神经影像学表现1例报告","authors":"D. Kumar","doi":"10.23880/crij-16000205","DOIUrl":null,"url":null,"abstract":"Tuberous sclerosis (TS) is an autosomal dominant disorder, also known as Bourneville-Pringle disease. The disease is classically characterized by the presence of hamartomatous growths in multiple organs. TS and tuberous sclerosis complex (TSC) are different terms for the same genetic condition. The major sign and symptoms include, central nervous system manifestations including epilepsy, cognitive impairment and autism spectrum disorders, cutaneous, cardiac, renal and ophthalmic manifestations with Epilepsy being the most common symptoms and affects 70% - 90% of patients.","PeriodicalId":198632,"journal":{"name":"Clinical Radiology & Imaging Journal","volume":"44 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Tuberous Sclerosis with Typical Neuroimaging Findings-A Case Report\",\"authors\":\"D. Kumar\",\"doi\":\"10.23880/crij-16000205\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Tuberous sclerosis (TS) is an autosomal dominant disorder, also known as Bourneville-Pringle disease. The disease is classically characterized by the presence of hamartomatous growths in multiple organs. TS and tuberous sclerosis complex (TSC) are different terms for the same genetic condition. The major sign and symptoms include, central nervous system manifestations including epilepsy, cognitive impairment and autism spectrum disorders, cutaneous, cardiac, renal and ophthalmic manifestations with Epilepsy being the most common symptoms and affects 70% - 90% of patients.\",\"PeriodicalId\":198632,\"journal\":{\"name\":\"Clinical Radiology & Imaging Journal\",\"volume\":\"44 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1900-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Radiology & Imaging Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.23880/crij-16000205\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Radiology & Imaging Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.23880/crij-16000205","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Tuberous Sclerosis with Typical Neuroimaging Findings-A Case Report
Tuberous sclerosis (TS) is an autosomal dominant disorder, also known as Bourneville-Pringle disease. The disease is classically characterized by the presence of hamartomatous growths in multiple organs. TS and tuberous sclerosis complex (TSC) are different terms for the same genetic condition. The major sign and symptoms include, central nervous system manifestations including epilepsy, cognitive impairment and autism spectrum disorders, cutaneous, cardiac, renal and ophthalmic manifestations with Epilepsy being the most common symptoms and affects 70% - 90% of patients.