{"title":"卡达西尔--中风的罕见表现","authors":"AASHISH DAMA, Pulkit Jain, JITENDRA SINGH, CHANDRA KANT SALVE, ASHISH SHARMA","doi":"10.22159/ijcpr.2024v16i3.4085","DOIUrl":null,"url":null,"abstract":"Objective: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary syndrome caused by heterozygous mutations in the NOTCH3 gene that manifests in adulthood and is characterized by recurrent transient ischemic attacks and strokes, migraine-like headaches, psychiatric disturbance, and progressive dementia. \nMethods: This is a case report. \nResults: Current case presented with complain of dizziness and vomiting. The diagnosis was suspected mainly because of the typical brain magnetic resonance imaging (MRI). This shows the importance of brain MRI in the diagnosis of CADASIL. \nConclusion: Increased awareness of neurologists and neuroradiologists about the typical MRI features of CADASIL is of vital importance to reach the diagnosis in a timely manner.","PeriodicalId":13875,"journal":{"name":"International Journal of Current Pharmaceutical Research","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"CADASIL-A RARE PRESENTATION OF STROKE\",\"authors\":\"AASHISH DAMA, Pulkit Jain, JITENDRA SINGH, CHANDRA KANT SALVE, ASHISH SHARMA\",\"doi\":\"10.22159/ijcpr.2024v16i3.4085\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Objective: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary syndrome caused by heterozygous mutations in the NOTCH3 gene that manifests in adulthood and is characterized by recurrent transient ischemic attacks and strokes, migraine-like headaches, psychiatric disturbance, and progressive dementia. \\nMethods: This is a case report. \\nResults: Current case presented with complain of dizziness and vomiting. The diagnosis was suspected mainly because of the typical brain magnetic resonance imaging (MRI). This shows the importance of brain MRI in the diagnosis of CADASIL. \\nConclusion: Increased awareness of neurologists and neuroradiologists about the typical MRI features of CADASIL is of vital importance to reach the diagnosis in a timely manner.\",\"PeriodicalId\":13875,\"journal\":{\"name\":\"International Journal of Current Pharmaceutical Research\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-05-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Journal of Current Pharmaceutical Research\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.22159/ijcpr.2024v16i3.4085\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Current Pharmaceutical Research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.22159/ijcpr.2024v16i3.4085","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Objective: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary syndrome caused by heterozygous mutations in the NOTCH3 gene that manifests in adulthood and is characterized by recurrent transient ischemic attacks and strokes, migraine-like headaches, psychiatric disturbance, and progressive dementia.
Methods: This is a case report.
Results: Current case presented with complain of dizziness and vomiting. The diagnosis was suspected mainly because of the typical brain magnetic resonance imaging (MRI). This shows the importance of brain MRI in the diagnosis of CADASIL.
Conclusion: Increased awareness of neurologists and neuroradiologists about the typical MRI features of CADASIL is of vital importance to reach the diagnosis in a timely manner.