切换至 "中华医学电子期刊资源库"

中华脑血管病杂志(电子版) ›› 2022, Vol. 16 ›› Issue (03) : 214 -217. doi: 10.11817/j.issn.1673-9248.2022.03.014

病例报告

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一例家系报告
李培芳1, 孟超越2, 袁思2, 王齐松2, 王野2, 周碧怡2, 张文超3, 王睿2, 刘晓云4,()   
  1. 1. 056000 河北邯郸,邯郸市中心医院神经内科;050000 石家庄,河北医科大学第二医院神经内科
    2. 050000 石家庄,河北医科大学第二医院神经内科
    3. 056000 河北邯郸,邯郸市中心医院神经内科
    4. 050000 石家庄,河北医科大学第二医院神经内科;050017 石家庄,河北医科大学神经科学研究中心医学健康研究所
  • 收稿日期:2021-05-17 出版日期:2022-06-01
  • 通信作者: 刘晓云

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a case report

Yong'an Sun1   

  • Received:2021-05-17 Published:2022-06-01
引用本文:

李培芳, 孟超越, 袁思, 王齐松, 王野, 周碧怡, 张文超, 王睿, 刘晓云. 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一例家系报告[J]. 中华脑血管病杂志(电子版), 2022, 16(03): 214-217.

Yong'an Sun. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a case report[J]. Chinese Journal of Cerebrovascular Diseases(Electronic Edition), 2022, 16(03): 214-217.

图1 伴有皮质下梗死和白质脑病常染色体显性遗传性脑动脉病先证者就诊和随访时的磁共振影像表现。箭头显示病变。弥散加权成像(DWI)显示左侧放射冠-半卵圆中心有新的梗死灶(图a);基底节多发性腔隙性缺血(图b);磁共振血管造影(MRA)扫描无明显脑动脉硬化(图c);双侧基底节区有多发性微出血(图d)。先证者脑卒中后1年复查,DWI显示右侧半卵圆中心有新的梗死灶(图e);腔隙性梗死灶和脱髓鞘病变(图f);MRA扫描与以前相同(图g);磁敏感加权成像显示双侧基底节有微出血(图h)
图2 伴有皮质下梗死和白质脑病常染色体显性遗传性脑动脉病家系图谱。这个中国家庭的家谱如图a所示,黑色箭头表示先证者,方框表示男性,圆形表示女性,黑色表示基因突变。Notch3的c.1630C>T突变(图b、d、f、h);基因谱未发现突变(图c、e、g)。图b为先证者的基因测序,图c为先证者侄子的基因测序;图d为先证者哥哥的基因测序,图e为先证者大姐的基因测序;图f为先证者二姐的基因测序;图g为先证者女儿的基因测序;图h为先证者儿子的基因测序
图3 伴有皮质下梗死和白质脑病常染色体显性遗传性脑动脉病先证者的哥哥和儿子的磁共振检查结果。箭头显示病变。先证者的哥哥弥散加权成像(DWI)显示右侧半卵圆中心有新的梗死灶(图a),双侧颞叶、顶叶皮质、放射冠-基底节、丘脑、脑桥、胼胝体有多发性腔隙性梗死或脱髓鞘病变(图b),磁共振血管造影(MRA)扫描未见明显脑动脉硬化(图c),双侧基底节区多发微出血(图d)。先证者儿子磁共振扫描的DWI(图e)及MRI(图f)、MRA(图g)、磁敏感加权成像(图h)未见明显异常
1
Tikka S, Baumann M, Siitonen M, et al. CADASIL and CARASIL [J]. Brain Pathol, 2014, 24(5): 525-544.
2
Liao YC, Hsiao CT, Fuh JL, et al. Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles [J]. PLoS One, 2015, 10(8): e0136501.
3
André C. CADASIL: pathogenesis, clinical and radiological findings and treatment [J]. Arq Neuropsiquiatr, 2010, 68(2): 287-299.
4
Yi F, Tang H, Xu H,et al. Clinical and image features for 12 cases of cerebral autosomal dominant arteriopathy with the subcortical infarcts and leukoencephalopathy [J]. Zhong Nan Da Xue Xue Bao Yi Xue Ban, 2019, 44(5): 549-554.
5
Wang Z, Yuan Y, Zhang W, et al. NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL [J]. J Neurol Neurosurg Psychiatry, 2011, 82(5): 534-539.
6
Choi JC, Kang SY, Kang JH, et al. Intracerebral hemorrhages in CADASIL [J]. Neurology, 2006, 67(11): 2042-2044.
7
Rutten JW, Haan J, Terwindt GM, et al. Interpretation of NOTCH3 mutations in the diagnosis of CADASIL [J]. Expert Rev Mol Diagn, 2014, 14(5): 593-603.
8
Tan QC, Zhang JT, Cui RT, et al. Characteristics of CADASIL in Chinese mainland patients [J]. Neurol India, 2014, 62(3): 257-261.
9
Gravesteijn G, Rutten JW, Verberk IMW, et al. Serum neurofilament light correlates with CADASIL disease severity and survival [J]. Ann Clin Transl Neurol, 2018, 6(1): 46-56.
10
Nannucci S, Rinnoci V, Pracucci G, et al. Location, number and factors associated with cerebral microbleeds in an Italian-British cohort of CADASIL patients [J]. PLoS One, 2018, 13(1): e0190878.
11
Ferrante EA, Cudrici CD, Boehm M. CADASIL: new advances in basic science and clinical perspectives [J]. Curr Opin Hematol, 2019, 26(3): 193-198.
12
Dziewulska D, Sulejczak D, Wężyk M. What factors determine phenotype of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)? Considerations in the context of a novel pathogenic R110C mutation in the NOTCH3 gene [J]. Folia Neuropathol, 2017, 55(4): 295-300.
13
Zhang C, Li W, Li S, et al. Intracranial large artery abnormalities and association with cerebral small vessel disease in CADASIL [J]. Front Neurol, 2020, 11: 726.
14
Goldstein ED, Majersik JJ, McNally S. Intracranial high-resolution vessel wall imaging in CADASIL [J]. Neurology, 2020, 94(23): 1040-1041.
15
Ling C, Liu Z, Song M, et al. Modeling CADASIL vascular pathologies with patient-derived induced pluripotent stem cells [J]. Protein Cell, 2019, 10(4): 249-271.
No related articles found!
阅读次数
全文


摘要