Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy misdiagnosed as multiple sclerosis: a case report
10.3760/cma.j.cn113694-20240509-00326
- VernacularTitle:误诊为多发性硬化的伴有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
- Author:
Xiaoyan YU
1
;
Lili ZENG
1
Author Information
1. 上海交通大学医学院附属瑞金医院神经内科，上海 200025
- Publication Type:Journal Article
- Keywords:
Multiple sclerosis;
CADASIL;
Oligoclonal bands;
NOTCH3 gene
- From:
Chinese Journal of Neurology
2025;58(1):76-80
- CountryChina
- Language:Chinese
-
Abstract:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease, manifesting as recurrent ischaemic events, migraine with aura and cognitive decline. Multiple sclerosis (MS) is an autoimmune disease characterized by white matter demyelination in the central nervous system, and positive oligoclonal band is an important diagnostic basis for this disease. There are many similarities between the two diseases in clinical manifestations and imaging, which are easy to cause misdiagnosis. A case of CADASIL confirmed by genetic testing more than 10 years after the initial diagnosis of MS with a positive oligoclonal band is reported. The analysis of this case is conducted to improve the new understanding of the inflammatory pathogenesis of CADASIL and increase the level of disease diagnosis and treatment.
