易误诊为多发性硬化的伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病1例报道

doi:10.3969/j.issn.1673-5765.2026.02.013

中国卒中杂志 ›› 2026, Vol. 21 ›› Issue (2): 246-251.DOI: 10.3969/j.issn.1673-5765.2026.02.013

易误诊为多发性硬化的伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病1例报道

吴慧敏，游咏，陈斌

海口 570100 海南医科大学第二附属医院神经内科

收稿日期:2025-08-25 修回日期:2026-01-27 接受日期:2026-02-10 出版日期:2026-02-20 发布日期:2026-02-20
通讯作者: 陈斌 hyefy12452@muhn.edu.cn

A Case Report of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Easily Misdiagnosed as Multiple Sclerosis

WU Huimin, YOU Yong, CHEN Bin

Department of Neurology, The Second Affiliated Hospital of Hainan Medical University, Haikou 570100, China

Received:2025-08-25 Revised:2026-01-27 Accepted:2026-02-10 Online:2026-02-20 Published:2026-02-20
Contact: CHEN Bin, E-mail: hyefy12452@muhn.edu.cn

摘要/Abstract

摘要： 伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy，CADASIL）是一种常染色体显性遗传性脑小血管疾病。多发性硬化是一种中枢神经系统的炎症性脱髓鞘疾病。两者在临床表现和影像学特征上有较多类似之处，易造成误诊。本文报道１例因颅内和脊髓同时发生病变，最初诊断为多发性硬化，最终经基因检测明确诊断为Notch受体3（Notch receptor 3，Notch3）p.Arg544Cys（c.1630C>T）纯合错义突变的CADASIL患者，旨在通过对该病例的分析，减少CADASIL的误诊和漏诊，丰富Notch3在该突变位点上的临床表型，并提高对该疾病的认识与诊疗水平。

关键词: 伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病; 多发性硬化; Notch受体3基因突变; 卵圆孔未闭; 癫痫

Abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant cerebral small vessel disease. Multiple sclerosis is an inflammatory demyelinating disease of the central nervous system. The two diseases share numerous similarities in clinical manifestations and neuroimaging features, which readily leads to misdiagnosis. This paper reports one patient with concurrent intracranial and spinal cord lesions who was initially diagnosed with multiple sclerosis, and was ultimately confirmed to have CADASIL caused by the homozygous missense mutation p.Arg544Cys (c.1630C>T) in the Notch3 (Notch receptor 3) via genetic testing. This case analysis is intended to reduce misdiagnosis and underdiagnosis of CADASIL, enrich the clinical phenotypes associated with this specific Notch3 mutation, and enhance the awareness, diagnosis, and treatment of the disease.

Key words: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; Multiple sclerosis; Notch receptor 3 gene mutation; Patent foramen ovale; Epilepsy

中图分类号:

吴慧敏, 游咏, 陈斌. 易误诊为多发性硬化的伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病1例报道[J]. 中国卒中杂志, 2026, 21(2): 246-251.

WU Huimin, YOU Yong, CHEN Bin. A Case Report of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Easily Misdiagnosed as Multiple Sclerosis[J]. Chinese Journal of Stroke, 2026, 21(2): 246-251.

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易误诊为多发性硬化的伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病1例报道

A Case Report of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Easily Misdiagnosed as Multiple Sclerosis

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