Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jan 16, 2023; 11(2): 464-471
Published online Jan 16, 2023. doi: 10.12998/wjcc.v11.i2.464
X-linked Charcot-Marie-Tooth disease after SARS-CoV-2 vaccination mimicked stroke-like episodes: A case report
Qiang Zhang, Yang Wang, Run-Tao Bai, Bao-Rong Lian, Yu Zhang, Li-Ming Cao
Qiang Zhang, Yang Wang, Run-Tao Bai, Li-Ming Cao, Department of Neurology, The First Affiliated Hospital of Shenzhen University, Shenzhen 518000, Guangdong Province, China
Bao-Rong Lian, Shantou University Medical College, Shantou University, Shantou 515063, Guangdong Province, China
Yu Zhang, Clinical College of The Shenzhen Second People's Hospital, Anhui Medical University, Shenzhen 518000, Guangdong Province, China
Li-Ming Cao, Hunan Key Laboratory of The Research and Development of Novel Pharmaceutical Preparations, Changsha Medical University, Changsha 410219, Hunan Province, China
Author contributions: Cao LM was involved in writing, diagnosis confirmation, and conceptualization; Zhang Q and Wang Y were involved in writing, constructive discussion, and literature review; Zhang Y, Lian BR, and Bai RT provided constructive discussion; All authors have read and approved the final manuscript; Zhang Q and Wang Y contributed equally to this work and share first authorship.
Supported by Shenzhen Science and Technology Project, No. SGLH20180628161804465; and The Clinical Research Project of The First Affiliated Hospital of Shenzhen University, No. 20203357035 and No. 20223357021.
Informed consent statement: The study design was approved by the ethics review board of the First Affiliated Hospital of Shenzhen University (No: 20220115006). Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Li-Ming Cao, MD, PhD, Research Scientist, Hunan Key Laboratory of The Research and Development of Novel Pharmaceutical Preparations, Changsha Medical University, No. 1501 Leifeng Avenue, Wangcheng District, Changsha 410219, Hunan Province, China. caolm-2007@163.com
Received: November 6, 2022
Peer-review started: November 6, 2022
First decision: November 16, 2022
Revised: November 18, 2022
Accepted: January 3, 2023
Article in press: January 3, 2023
Published online: January 16, 2023
Abstract
BACKGROUND

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccinations have been administered worldwide, with occasional reports of associated neurological complications. Specifically, the impact of vaccinations on individuals with X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is unclear. Patients with CMTX1 can have stroke-like episodes with posterior reversible encephalopathy syndrome on magnetic resonance imaging (MRI), although this is rare.

CASE SUMMARY

A 39-year-old man was admitted with episodic aphasia and dysphagia for 2 d. He received SARS-CoV-2 vaccination 39 d before admission. Physical examination showed pes cavus and reduced tendon reflexes. Brain MRI showed bilateral, symmetrical, restricted diffusion with T2 hyperintensities in the cerebral hemispheres. Nerve conduction studies revealed peripheral nerve damage. He was diagnosed with Charcot-Marie-Tooth disease, and a hemizygous mutation in the GJB1 gene on the X chromosome, known to be pathogenic for CMTX1, was identified. Initially, we suspected transient ischemic attack or demyelinating leukoencephalopathy. We initiated treatment with antithrombotic therapy and immunotherapy. At 1.5 mo after discharge, brain MRI showed complete resolution of lesions, with no recurrence.

CONCLUSION

SARS-CoV-2 vaccination could be a predisposing factor for CMTX1 and trigger a sudden presentation.

Keywords: X-linked Charcot-Marie-Tooth disease, SARS-CoV-2 vaccination, Stroke-like episodes, Reversible splenial lesion syndrome, Demyelinating leukoencephalopathy, Case report

Core Tip: We present a case report of a young man who presented with episodic aphasia and dysphagia after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccination. After a complete neurological evaluation, nerve conduction study, and DNA analysis, we diagnosed the patient with Charcot-Marie-Tooth disease type 1 (CMTX1). CMTX1 can occur after SARS-CoV-2 vaccination, and thus SARS-CoV-2 vaccination should be considered a potential predisposing factor for CMTX1. There is paucity of information on the neurological consequences of SARS-CoV-2 vaccination, even though billions of vaccines have been administered worldwide. We believe that our study makes a significant contribution to the literature based on the continued urgency of the coronavirus disease 2019 pandemic.