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CADASIL Presenting with Parkinsonism, Intracerebral Hemorrhage, and Atypical White Matter Lesions: A Case Report

Received: 25 June 2023     Accepted: 11 July 2023     Published: 21 July 2023
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Abstract

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary cerebrovascular disorder characterized by common clinical manifestations such as frequent migraine episodes, recurrent transient ischemic attacks or strokes, gradual cognitive decline, and emotional disturbances. The typical Magnetic Resonance Imaging (MRI) characteristics for CADASIL include symmetrical white matter hyperintensities (WMHs) in the anterior temporal poles, external capsules, frontal cortex, and surrounding the lateral ventricle, along with multiple lacunar infarcts and cerebral microbleedings (CMBs), and occasionally with intracerebral hemorrhage (ICH). The presence of WMHs in the anterior temporal poles demonstrates high sensitivity and specificity in diagnosing CADASIL. In this report, we present a case featuring clinical manifestations of progressive cognitive impairment, apathy, and parkinsonism, accompanied by ICH. However, the reported case lacked the typical WMHs in the anterior temporal poles, which is generally observed in CADASIL patients. Ultimately, a missense mutation c.1630C>T (p.R544C) in the Notch3 gene was identified through next-generation sequencing, confirming a CADASIL diagnosis. This case implies that the p.R544C mutation may pose a significant risk factor for ICH, and individuals carrying this mutation are more susceptible to developing parkinsonism. Therefore, CADASIL should be considered as a potential diagnosis for patients exhibiting clinical symptoms of recurrent strokes, progressive cognitive dysfunction, mood disturbances, and parkinsonism, even if their imaging findings display atypical white matter lesions (WMLs).

Published in Clinical Medicine Research (Volume 12, Issue 4)
DOI 10.11648/j.cmr.20231204.13
Page(s) 72-76
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2023. Published by Science Publishing Group

Keywords

CADASIL, Notch3, Intracerebral Hemorrhage, Parkinsonism, White Matter Lesions

References
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Cite This Article
  • APA Style

    Fan Xinman, Xu Yezi, Zhu Huili, Guo Li, Deng Zhe, et al. (2023). CADASIL Presenting with Parkinsonism, Intracerebral Hemorrhage, and Atypical White Matter Lesions: A Case Report. Clinical Medicine Research, 12(4), 72-76. https://doi.org/10.11648/j.cmr.20231204.13

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    ACS Style

    Fan Xinman; Xu Yezi; Zhu Huili; Guo Li; Deng Zhe, et al. CADASIL Presenting with Parkinsonism, Intracerebral Hemorrhage, and Atypical White Matter Lesions: A Case Report. Clin. Med. Res. 2023, 12(4), 72-76. doi: 10.11648/j.cmr.20231204.13

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    AMA Style

    Fan Xinman, Xu Yezi, Zhu Huili, Guo Li, Deng Zhe, et al. CADASIL Presenting with Parkinsonism, Intracerebral Hemorrhage, and Atypical White Matter Lesions: A Case Report. Clin Med Res. 2023;12(4):72-76. doi: 10.11648/j.cmr.20231204.13

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  • @article{10.11648/j.cmr.20231204.13,
      author = {Fan Xinman and Xu Yezi and Zhu Huili and Guo Li and Deng Zhe and Xu Xiaohong},
      title = {CADASIL Presenting with Parkinsonism, Intracerebral Hemorrhage, and Atypical White Matter Lesions: A Case Report},
      journal = {Clinical Medicine Research},
      volume = {12},
      number = {4},
      pages = {72-76},
      doi = {10.11648/j.cmr.20231204.13},
      url = {https://doi.org/10.11648/j.cmr.20231204.13},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.cmr.20231204.13},
      abstract = {Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary cerebrovascular disorder characterized by common clinical manifestations such as frequent migraine episodes, recurrent transient ischemic attacks or strokes, gradual cognitive decline, and emotional disturbances. The typical Magnetic Resonance Imaging (MRI) characteristics for CADASIL include symmetrical white matter hyperintensities (WMHs) in the anterior temporal poles, external capsules, frontal cortex, and surrounding the lateral ventricle, along with multiple lacunar infarcts and cerebral microbleedings (CMBs), and occasionally with intracerebral hemorrhage (ICH). The presence of WMHs in the anterior temporal poles demonstrates high sensitivity and specificity in diagnosing CADASIL. In this report, we present a case featuring clinical manifestations of progressive cognitive impairment, apathy, and parkinsonism, accompanied by ICH. However, the reported case lacked the typical WMHs in the anterior temporal poles, which is generally observed in CADASIL patients. Ultimately, a missense mutation c.1630C>T (p.R544C) in the Notch3 gene was identified through next-generation sequencing, confirming a CADASIL diagnosis. This case implies that the p.R544C mutation may pose a significant risk factor for ICH, and individuals carrying this mutation are more susceptible to developing parkinsonism. Therefore, CADASIL should be considered as a potential diagnosis for patients exhibiting clinical symptoms of recurrent strokes, progressive cognitive dysfunction, mood disturbances, and parkinsonism, even if their imaging findings display atypical white matter lesions (WMLs).},
     year = {2023}
    }
    

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  • TY  - JOUR
    T1  - CADASIL Presenting with Parkinsonism, Intracerebral Hemorrhage, and Atypical White Matter Lesions: A Case Report
    AU  - Fan Xinman
    AU  - Xu Yezi
    AU  - Zhu Huili
    AU  - Guo Li
    AU  - Deng Zhe
    AU  - Xu Xiaohong
    Y1  - 2023/07/21
    PY  - 2023
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    DO  - 10.11648/j.cmr.20231204.13
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    JF  - Clinical Medicine Research
    JO  - Clinical Medicine Research
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    EP  - 76
    PB  - Science Publishing Group
    SN  - 2326-9057
    UR  - https://doi.org/10.11648/j.cmr.20231204.13
    AB  - Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary cerebrovascular disorder characterized by common clinical manifestations such as frequent migraine episodes, recurrent transient ischemic attacks or strokes, gradual cognitive decline, and emotional disturbances. The typical Magnetic Resonance Imaging (MRI) characteristics for CADASIL include symmetrical white matter hyperintensities (WMHs) in the anterior temporal poles, external capsules, frontal cortex, and surrounding the lateral ventricle, along with multiple lacunar infarcts and cerebral microbleedings (CMBs), and occasionally with intracerebral hemorrhage (ICH). The presence of WMHs in the anterior temporal poles demonstrates high sensitivity and specificity in diagnosing CADASIL. In this report, we present a case featuring clinical manifestations of progressive cognitive impairment, apathy, and parkinsonism, accompanied by ICH. However, the reported case lacked the typical WMHs in the anterior temporal poles, which is generally observed in CADASIL patients. Ultimately, a missense mutation c.1630C>T (p.R544C) in the Notch3 gene was identified through next-generation sequencing, confirming a CADASIL diagnosis. This case implies that the p.R544C mutation may pose a significant risk factor for ICH, and individuals carrying this mutation are more susceptible to developing parkinsonism. Therefore, CADASIL should be considered as a potential diagnosis for patients exhibiting clinical symptoms of recurrent strokes, progressive cognitive dysfunction, mood disturbances, and parkinsonism, even if their imaging findings display atypical white matter lesions (WMLs).
    VL  - 12
    IS  - 4
    ER  - 

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Author Information
  • Department of Neurology and Stroke Center, The First Affiliated Hospital of Jinan University, Guangzhou, China

  • Department of Neurology and Stroke Center, The First Affiliated Hospital of Jinan University, Guangzhou, China

  • Department of Neurology and Stroke Center, The First Affiliated Hospital of Jinan University, Guangzhou, China

  • Department of Neurology and Stroke Center, The First Affiliated Hospital of Jinan University, Guangzhou, China

  • Department of Neurology and Stroke Center, The First Affiliated Hospital of Jinan University, Guangzhou, China

  • Department of Neurology and Stroke Center, The First Affiliated Hospital of Jinan University, Guangzhou, China

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