卡达西尔--中风的罕见表现

AASHISH DAMA, Pulkit Jain, JITENDRA SINGH, CHANDRA KANT SALVE, ASHISH SHARMA
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摘要

目的:脑常染色体显性动脉病伴有皮层下梗死和白质脑病(CADASIL)是一种遗传性综合征,由NOTCH3基因的杂合突变引起,成年后表现为反复发作的短暂性脑缺血发作和脑卒中、偏头痛样头痛、精神障碍和进行性痴呆。研究方法这是一份病例报告。结果:本病例主诉头晕:本病例主诉头晕和呕吐。诊断被怀疑主要是因为典型的脑磁共振成像(MRI)。这表明脑磁共振成像在诊断 CADASIL 中的重要性。结论提高神经科医生和神经放射科医生对 CADASIL 典型 MRI 特征的认识对于及时确诊至关重要。
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CADASIL-A RARE PRESENTATION OF STROKE
Objective: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary syndrome caused by heterozygous mutations in the NOTCH3 gene that manifests in adulthood and is characterized by recurrent transient ischemic attacks and strokes, migraine-like headaches, psychiatric disturbance, and progressive dementia. Methods: This is a case report. Results: Current case presented with complain of dizziness and vomiting. The diagnosis was suspected mainly because of the typical brain magnetic resonance imaging (MRI). This shows the importance of brain MRI in the diagnosis of CADASIL. Conclusion: Increased awareness of neurologists and neuroradiologists about the typical MRI features of CADASIL is of vital importance to reach the diagnosis in a timely manner.
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