Publication: A large number of cerebral microbleeds in CADASIL patients presenting with recurrent seizures: A case report
dc.contributor.author | Chumpol Anamnart | en_US |
dc.contributor.author | Dittapong Songsaeng | en_US |
dc.contributor.author | Sirisak Chanprasert | en_US |
dc.contributor.other | Chulalongkorn University | en_US |
dc.contributor.other | University of Washington, Seattle | en_US |
dc.contributor.other | Faculty of Medicine, Siriraj Hospital, Mahidol University | en_US |
dc.date.accessioned | 2020-01-27T09:48:50Z | |
dc.date.available | 2020-01-27T09:48:50Z | |
dc.date.issued | 2019-05-30 | en_US |
dc.description.abstract | © 2019 The Author(s). Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary arteriopathy associated with the NOTCH3 gene. Clinical manifestations include strokes, transient ischaemic events, psychiatric disturbances, dementia, and migraines. We report a case of a Thai man with a severe CADASIL phenotype who presented with recurrent seizures and acute ischaemic stroke and classic vascular risk factors. Case presentation: A 50-year-old man with a history of mood disorder and progressive cognitive decline for 20 years as well as well-controlled diabetes mellitus and hypertension presented with recurrent generalized seizures and acute right-sided weakness. An MRI of the brain showed acute infarction of the left pons, a large number of cerebral microbleeds throughout the brain and white matter abnormalities without classic anterior temporal lobe lesions. Molecular genetic testing identified a homozygous pathologic variant, c.1672C > T (p. Arg558Cys), in the NOTCH3 gene. The diagnosis of CADASIL was confirmed. His clinical symptoms deteriorated, and he died of tracheobronchitis with secretion obstruction. Conclusion: This case raises awareness of an uncommon cause of acute ischaemic stroke in patients with classic vascular risk factors and emphasizes the need for a complete evaluation in cases with unexpected clinical presentation or unexpected diagnostic study results. | en_US |
dc.identifier.citation | BMC Neurology. Vol.19, No.1 (2019) | en_US |
dc.identifier.doi | 10.1186/s12883-019-1342-2 | en_US |
dc.identifier.issn | 14712377 | en_US |
dc.identifier.other | 2-s2.0-85066506007 | en_US |
dc.identifier.uri | https://repository.li.mahidol.ac.th/handle/123456789/51638 | |
dc.rights | Mahidol University | en_US |
dc.rights.holder | SCOPUS | en_US |
dc.source.uri | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85066506007&origin=inward | en_US |
dc.subject | Medicine | en_US |
dc.title | A large number of cerebral microbleeds in CADASIL patients presenting with recurrent seizures: A case report | en_US |
dc.type | Article | en_US |
dspace.entity.type | Publication | |
mu.datasource.scopus | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85066506007&origin=inward | en_US |