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

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

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

Clinical Medicine Research, Volume 12, Issue 4, July 2023

Pages: 72-76

Received: Jun. 25, 2023

Accepted: Jul. 11, 2023

Published: Jul. 21, 2023

DOI: 10.11648/j.cmr.20231204.13

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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).

Keywords

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

To cite this article

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

Copyright © 2023 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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