Sowmya Saravanan, Rajeswari Aghoram, Sunil K Narayan, Jayaram Saibaba, R Madhan
{"title":"中枢神经系统血管病：遗传还是获得性？DADA2难题。","authors":"Sowmya Saravanan, Rajeswari Aghoram, Sunil K Narayan, Jayaram Saibaba, R Madhan","doi":"10.1136/pn-2024-004441","DOIUrl":null,"url":null,"abstract":"<p><p>Young people with stroke require detailed investigation because uncommon causes are more likely. A 19-year-old woman presented with multiple cortical and subcortical infarcts, arterial aneurysms, anaemia and hypertension. Further evaluation identified a systemic vasculopathy secondary to a deficiency of adenosine deaminase 2, a rare treatable monogenic disorder.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4000,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Central nervous system vasculopathy: inherited or acquired? The DADA2 conundrum.\",\"authors\":\"Sowmya Saravanan, Rajeswari Aghoram, Sunil K Narayan, Jayaram Saibaba, R Madhan\",\"doi\":\"10.1136/pn-2024-004441\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Young people with stroke require detailed investigation because uncommon causes are more likely. A 19-year-old woman presented with multiple cortical and subcortical infarcts, arterial aneurysms, anaemia and hypertension. Further evaluation identified a systemic vasculopathy secondary to a deficiency of adenosine deaminase 2, a rare treatable monogenic disorder.</p>\",\"PeriodicalId\":39343,\"journal\":{\"name\":\"PRACTICAL NEUROLOGY\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.4000,\"publicationDate\":\"2025-01-08\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"PRACTICAL NEUROLOGY\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1136/pn-2024-004441\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"PRACTICAL NEUROLOGY","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1136/pn-2024-004441","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Central nervous system vasculopathy: inherited or acquired? The DADA2 conundrum.
Young people with stroke require detailed investigation because uncommon causes are more likely. A 19-year-old woman presented with multiple cortical and subcortical infarcts, arterial aneurysms, anaemia and hypertension. Further evaluation identified a systemic vasculopathy secondary to a deficiency of adenosine deaminase 2, a rare treatable monogenic disorder.
期刊介绍：
The essential point of Practical Neurology is that it is practical in the sense of being useful for everyone who sees neurological patients and who wants to keep up to date, and safe, in managing them. In other words this is a journal for jobbing neurologists - which most of us are for at least part of our time - who plough through the tension headaches and funny turns week in and week out. Primary research literature potentially relevant to routine clinical practice is far too much for any neurologist to read, let alone understand, critically appraise and assimilate. Therefore, if research is to influence clinical practice appropriately and quickly it has to be digested and provided to neurologists in an informative and convenient way.
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