This report describes the case of a 48-year-old Japanese man with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) who also presented with aortic dissection. The patient had a history of hypertension, diabetes mellitus, dyslipidemia, and mild renal failure but had not received any treatment. He developed back pain and was diagnosed with type A aortic dissection via contrast-enhanced chest computed tomography (CT). He was treated with total arch aortic graft replacement. On the seventh day post-surgery, a brain CT revealed a cerebral infarction in the left frontal cortex, which was considered a surgical complication. T2-weighted fluid-attenuated inversion recovery (FLAIR) brain magnetic resonance imaging (MRI) performed five months after onset revealed widespread confluent white matter hyperintensities, including involvement of the bilateral temporal tips. Genetic testing identified a C457T mutation (p.R153C) in exon 4 of the NOTCH3 gene. Based on these findings, the patient was diagnosed with CADASIL. CADASIL is a monogenic inherited cerebrovascular small vessel disease and the leading genetic cause of subcortical stroke in adults. However, large vessel involvement related to CADASIL is less recognized. In this report, we discuss the relationship between CADASIL and aortic dissection.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11608834 | PMC |
http://dx.doi.org/10.7759/cureus.72852 | DOI Listing |
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