Affiliation:
1. Huazhong University of Science and Technology
2. Central China Normal University
Abstract
Abstract
Background: Ischemic stroke and cognitive impairment are common in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which exists a natural disease process and progresses slowly. Here, we report a rare 50-year-old woman who had rapid disease progression with C. 457C > T, p. Argl53Cys heterozygous mutation in exon 4 of NOTCH3 gene, and discuss the possible reasons. Furthermore, we summarize clinical and imaging characteristics of 14 patients with Arg153Cys mutation.
Case presentation: The proband suffered acute ischemic stroke five times in five months followed by rapidly progressive dementia (RPD), inability to be living independently, though she didn’t have vascular risk factors and under standardized secondary prevention therapy from the first stroke. Magnetic resonance imaging showed extensive white matter hyperintensities, numerous ischemic infracts and microbleeds, and severe brain atrophy. Her elder brother and other patients with Arg153Cys mutation all did not progress so quickly. Her multiple strokes may associate with the poor self-regulation of blood vessels, which may promote the occurrence of RPD. Antiplatelet and anticoagulant drugs were difficult to prevent ischemic strokes. Severe imaging findings may indicate rapid progression of CADASIL. Additionally, we found that headache was a very frequent symptom in Arg153Cys mutation patients, accounting for 76.9%.
Conclusions: CADASIL can also appear rapid progression, as illustrated by our proband, which is worthy clinicians' attention and intervention timely. The relationship between genotype and phenotype may also need to be further studied.
Publisher
Research Square Platform LLC