Endovascular Treatment of Middle Cerebral Artery Occlusion in Patient with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A Case Report and Literature Review

doi:10.3969/j.issn.1673-5765.2024.04.008

Abstract

Abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebral small vessel disease caused by mutations in the NOTCH3 gene. The main vascular pathological changes in CADASIL are intracranial small arteries, with rare reports of involvement in the cerebral cortex and intracranial large/middle arteries. There is currently a lack of specific treatment for CADASIL. This paper reported a case of CADASIL patient who successfully received endovascular treatment for acute occlusion of middle cerebral artery, and discussed the literature with the aim of raising clinical awareness of the potential involvement of CADASIL in the cerebral cortex and intracranial large/middle arteries.

Key words: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; Endovascular treatment; Middle cerebral artery

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NOTCH3基因突变所致的遗传性脑小血管病，主要病变血管为颅内小动脉，累及大脑皮质和颅内大/中动脉的报道较罕见，目前缺乏特效治疗方法。本文报道1例大脑中动脉急性闭塞成功接受血管内治疗的CADASIL病例，并结合文献进行讨论，旨在引起临床医师对CADASIL可累及大脑皮质和颅内大/中动脉的重视。

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; 血管内治疗; 大脑中动脉

CLC Number:

LIU Yujun, LIU Leiyuan, XU Bingdong, HAN Jianbang, YANG Bing, DING Yan, YANG Ying, MENG Heng, ZHANG Yusheng. Endovascular Treatment of Middle Cerebral Artery Occlusion in Patient with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A Case Report and Literature Review[J]. Chinese Journal of Stroke, 2024, 19(4): 452-458.

刘昱君, 刘雷媛, 徐炳东, 韩建邦, 杨冰, 丁燕, 杨英, 孟珩, 张玉生. 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患者大脑中动脉闭塞血管内治疗1例并文献复习[J]. 中国卒中杂志, 2024, 19(4): 452-458.

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URL: https://www.chinastroke.org.cn/EN/10.3969/j.issn.1673-5765.2024.04.008

https://www.chinastroke.org.cn/EN/Y2024/V19/I4/452

References

[1] CHABRIAT H，JOUTEL A，DICHGANS M，et al. CADASIL[J]. Lancet Neurol，2009，8（7）：643-653.
[2] MARKUS H S，MARTIN R J，SIMPSON M A，et al. Diagnostic strategies in CADASIL[J]. Neurology，2002，59（8）：1134-1138.
[3] 张巍，刘旸，袁云. CADASIL的影像学改变[J]. 中国卒中杂志，2009，4（5）：396-399.
ZHANG W，LIU Y，YUAN Y. Imaging changes in CADASIL[J]. Chin J Stroke，2009，4（5）：396-399.
[4] 孙一忞，吴志英. CADASIL患者的临床、影像和Notch3基因突变特点及我国研究现状[J]. 中国卒中杂志，2012，7（2）：136-140.
SUN Y M，WU Z Y. Symptoms，neuroimaging and Notch3 mutations of CADASIL and its features in Chinese patients[J]. Chin J Stroke，2012，7（2）：136-140.
[5] 张昊晗，秦晓明，杨苗苗，等. 颞极和外囊白质高信号对CADASIL诊断价值的meta分析[J]. 国际脑血管病杂志，2021，29（1）：24-31.
ZHANG H H，QIN X M，YANG M M，et al. Diagnostic value of white matter hyperintensities in temporal pole and external capsule for CADASIL：a meta-analysis[J]. Int J Cerebrovasc Dis，2021，29（1）：24-31.
[6] 北京医学会罕见病分会，遗传性脑小血管病全国协作组. 中国遗传性脑小血管病临床实践工作建议[J]. 中华内科杂志，2022，61（8）：848-859.
Rare Diseases Branch of Beijing Medical Association，National Coordination Group Expert Committee of Hereditary Cerebral Small Vessel Disease. Clinical practice recommendations for hereditary cerebral small vessel disease in China[J]. Chin J Intern Med，2022，61（8）：848-859.
[7] 孙启英，李雯雯，周亚芳，等. 两个伴皮层下梗死和白质脑病的常染色体显性遗传性脑动脉病家系NOTCH3基因的突变分析[J]. 中华医学遗传学杂志，2017，34（6）：816-820.
SUN Q Y，LI W W，ZHOU Y F，et al. NOTCH3 gene mutations in two Chinese families featuring cerebral autosomal dominant arteriopathy with subcortical infarct and leucoencephaiopathy[J]. Chin J Med Genet，2017，34（6）：816-820.
[8] 中国卒中学会，中国卒中学会神经介入分会，中华预防医学会卒中预防与控制专业委员会介入学组. 急性缺血性卒中血管内治疗中国指南2023[J]. 中国卒中杂志，2023，18（6）：684-711.
Chinese Stroke Association，Chinese Interventional Neuroradiology Society，Intervention Group of Committee of Stroke Prevention and Control of Chinese Preventive Medicine Association. Chinese guideline for endovascular treatment of acute ischemic stroke 2023[J]. Chin J Stroke，2023，18（6）：684-711.
[9] Powers W J，Rabinstein A A，Ackerson T，et al. Guidelines for the early management of patients with acute ischemic stroke：2019 update to the 2018 guidelines for the early management of acute ischemic stroke：a guideline for healthcare professionals from the American Heart Association/American Stroke Association[J/OL]. Stroke，2019，50（12）：e344-e418[2023-09-11]. https://doi.org/10.1161/STR.0000000000000211.
[10] Yang P F，Zhang Y W，Zhang L，et al. Endovascular thrombectomy with or without intravenous alteplase in acute stroke[J]. N Engl J Med，2020，382（21）：1981-1993.
[11] 令晨，王朝霞，袁云. 常染色体显性遗传脑动脉病伴皮质下梗死及白质脑病的发病机制研究进展[J]. 中华神经科杂志，2021，54（4）：399-403．
LING C，WANG Z X，YUAN Y. Progress in the pathogenesis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy[J]. Chin J Neurol，2021，54（4）：399-403．
[12] 刘莹，张微微，朱光明. 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患者脑小动脉的病理学研究[J]. 中国脑血管病杂志，2005，2（4）：150-152，155.
LIU Y，ZHANG W W，ZHU G M. The pathological changes of cerebral arterioles in CADASIL of patients[J]. Chin J Cerebrovasc Dis，2005，2（4）：150-152，155.
[13] Zhang C，Li W，Li S W，et al. Intracranial large artery abnormalities and association with cerebral small vessel disease in CADASIL[J/OL]. Front Neurol，2020，11：726[2023-09-11]. https://doi.org/10.3389/fneur.2020.00726.
[14] Kang H G，Kim J S. Intracranial arterial disease in CADASIL patients[J]. J Neurol Sci，2015，359（1/2）：347-350.
[15] Choi E J，Choi C G，Kim J S. Large cerebral artery involvement in CADASIL[J]. Neurology，2005，65（8）：1322-1324.
[16] Ruchoux M M，Guerouaou D，Vandenhaute B，et al. Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy[J]. Acta Neuropathol，1995，89（6）：500-512.
[17] 中华医学会神经病学分会，中华医学会神经病学分会脑血管病学组. 中国脑小血管病诊治指南2020[J]. 中华神经科杂志，2022，55（8）：807-818.
Chinese Society of Neurology，Chinese Stroke Society. Chinese guideline for diagnosis and treatment of cerebral small vessel disease 2020[J]. Chin J Neurol，2022，55（8）：807-818.
[18] 中国研究型医院学会脑小血管病专委会《中国脑小血管病诊治专家共识2021》编写组. 中国脑小血管病诊治专家共识2021[J]. 中国卒中杂志，2021，16（7）：716-726.
Cerebral Small Vessel Disease Professional Committee Consensus Writing Group，Chinese Research Hospital Association. Chinese consensus on diagnosis and therapy of cerebral small vessel disease 2021[J]. Chin J Stroke，2021，16（7）：716-726.
[19] 中国血脂管理指南修订联合专家委员会. 中国血脂管理指南（2023年）[J]. 中华心血管病杂志，2023，51（3）：221-255.
Joint Committee on the Chinese Guidelines for Lipid Management. Chinese guidelines for lipid management（2023）[J]. Chin J Cardiol，2023，51（3）：221-255.