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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Hidden by Another Stroke

2022; Lippincott Williams & Wilkins; Volume: 53; Issue: 9 Linguagem: Inglês

10.1161/strokeaha.122.039829

1524-4628

Joseph Y. Yoon, Joshua P. Klein,

Neurological diseases and metabolism

HomeStrokeVol. 53, No. 9Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Hidden by Another Stroke Free AccessCase ReportPDF/EPUBAboutView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toFree AccessCase ReportPDF/EPUBCerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Hidden by Another Stroke Joseph Y. Yoon and Joshua P. Klein Joseph Y. YoonJoseph Y. Yoon Correspondence to: Joseph Y Yoon, MD, MSc, MAEd, Department of Neurosurgery, The Mount Sinai Hospital, 1468 Madison Ave, New York, NY 10029. Email E-mail Address: [email protected] https://orcid.org/0000-0002-3370-1562 Department of Neurosurgery, The Mount Sinai Hospital, New York, NY (J.Y.Y.). Department of Neurology, Brigham and Women's Hospital, Boston, MA (J.Y.Y., J.P.K). and Joshua P. KleinJoshua P. Klein https://orcid.org/0000-0001-6139-8081 Department of Neurology, Brigham and Women's Hospital, Boston, MA (J.Y.Y., J.P.K). Originally published15 Jul 2022https://doi.org/10.1161/STROKEAHA.122.039829Stroke. 2022;53:e422–e423Other version(s) of this articleYou are viewing the most recent version of this article. Previous versions: July 15, 2022: Ahead of Print Key PointAn atypical white matter lesion in the anterior temporal pole can be easily overlooked in the setting of a large stroke but should raise the suspicion for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy if clinical history is consistent.A 57-year-old man with no cardiovascular risk factors presented to the emergency department with headaches, confusion, and right-sided visual deficit upon waking from a nap. He had also suffered from forgetfulness, irritability, and multiple confusional episodes for 2 to 3 months. Both his parents had recurrent strokes in their 60s. Physical examination revealed right homonymous hemianopia and alexia without agraphia.The left posterior cerebral artery (PCA) lesion is bright on diffusion-weighted imaging (Figure 1A, arrowheads) and dark on apparent diffusion coefficient (Figure 1B, arrowheads), consistent with acute infarction. Computed tomography angiography shows a focal narrowing in the P2 segment of left PCA with distal recanalization (Figure 1C, arrow), with corresponding hypointense signal on susceptibility-weighted imaging magnetic resonance imaging (Figure 1D, arrow), likely representing a thrombus.Download figureDownload PowerPointFigure 1. Left posterior cerebral artery infarct.Axial T2-FLAIR magnetic resonance imaging images show diffuse, predominately periventricular white matter changes with focal cavitations, consistent with lacunar infarctions (Figure 2A and 2B, arrows). FLAIR images redemonstrate a large infarction with T2-hyperintense signal in L-PCA territory (Figure 2C, arrowheads) but also reveal a focal, distinct T2-hyperintense lesion in the left anterior temporal pole (curved arrow), outside of left PCA territory.Download figureDownload PowerPointFigure 2. White matter changes with T2-hyperintense lesion in the anterior temporal pole.Imaging revealed left PCA infarct and a separate FLAIR-hyperintense lesion was found in the left anterior temporal pole, outside of PCA territory. Genetic tests revealed pathogenic NOTCH3 mutation (c.1759 Arg587Cys missense mutation), confirming the diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). CADASIL affects small-to-medium-sized cerebral arteries, leading to subcortical strokes. Large cerebral vascular variants/abnormalities are also reported, such as stenosis, tortuosity, vertebral artery hypoplasia, basilar artery elongation, or fenestration.1 However, large vascular territory strokes remain rare in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,1,2,3 and the cause of the PCA infarct, in this case, is uncertain.Article InformationSources of FundingNone.Disclosures None.FootnotesFor Sources of Funding and Disclosures, see page e423.Correspondence to: Joseph Y Yoon, MD, MSc, MAEd, Department of Neurosurgery, The Mount Sinai Hospital, 1468 Madison Ave, New York, NY 10029. Email joseph.yoon@mountsinai.orgReferences1. Zhang C, Li W, Li S, Niu S, Wang X, Yu X, Zhang Z. Intracranial large artery abnormalities and association with cerebral small vessel disease in CADASIL.Front Neurol. 2020; 11:726. doi: 10.3389/fneur.2020.00726Google Scholar2. Di Donato I, Bianchi S, De Stefano N, Dichgans M, Dotti MT, Duering M, Jouvent E, Korczyn AD, Lesnik-Oberstein SA, Malandrini A, et al. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects.BMC Med. 2017; 15:41. doi: 10.1186/s12916-017-0778-8CrossrefMedlineGoogle Scholar3. Mizuno T, Mizuta I, Watanabe-Hosomi A, Mukai M, Koizumi T. Clinical and genetic aspects of CADASIL.Front Aging Neurosci. 2020; 12:91. doi: 10.3389/fnagi.2020.00091Google Scholar eLetters(0)eLetters should relate to an article recently published in the journal and are not a forum for providing unpublished data. Comments are reviewed for appropriate use of tone and language. Comments are not peer-reviewed. Acceptable comments are posted to the journal website only. Comments are not published in an issue and are not indexed in PubMed. Comments should be no longer than 500 words and will only be posted online. References are limited to 10. Authors of the article cited in the comment will be invited to reply, as appropriate.Comments and feedback on AHA/ASA Scientific Statements and Guidelines should be directed to the AHA/ASA Manuscript Oversight Committee via its Correspondence page.Sign In to Submit a Response to This Article Previous Back to top Next FiguresReferencesRelatedDetails September 2022Vol 53, Issue 9 Advertisement Article InformationMetrics © 2022 American Heart Association, Inc.https://doi.org/10.1161/STROKEAHA.122.039829PMID: 35862215 Originally publishedJuly 15, 2022 KeywordsCADASILcomputed tomography angiographyposterior cerebral arteryrisk factorsinfarctionPDF download Advertisement SubjectsCADASILMagnetic Resonance Imaging (MRI)