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

Fan Xinman; Xu Yezi; Zhu Huili; Guo Li; Deng Zhe; Xu Xiaohong

doi:doi:10.11648/j.cmr.20231204.13

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

Fan Xinman, Xu Yezi, Zhu Huili, Guo Li, Deng Zhe, Xu Xiaohong

Published in Clinical Medicine Research (Volume 12, Issue 4)

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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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
N1  - https://doi.org/10.11648/j.cmr.20231204.13
DO  - 10.11648/j.cmr.20231204.13
T2  - Clinical Medicine Research
JF  - Clinical Medicine Research
JO  - Clinical Medicine Research
SP  - 72
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

Fan Xinman

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

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

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

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

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

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

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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

Copy | Download

@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}
}

Copy | Download

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
N1  - https://doi.org/10.11648/j.cmr.20231204.13
DO  - 10.11648/j.cmr.20231204.13
T2  - Clinical Medicine Research
JF  - Clinical Medicine Research
JO  - Clinical Medicine Research
SP  - 72
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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