X-linked Charcot-Marie-Tooth disease after SARS-CoV-2 vaccination mimicked stroke-like episodes: A case report  

作　　者：Qiang Zhang Yang Wang Run-Tao Bai Bao-Rong Lian Yu Zhang Li-Ming Cao 

机构地区：[1]Department of Neurology,The First Affiliated Hospital of Shenzhen University,Shenzhen 518000,Guangdong Province,China [2]Shantou University Medical College,Shantou University,Shantou 515063,Guangdong Province,China [3]Clinical College of The Shenzhen Second People's Hospital,Anhui Medical University,Shenzhen 518000,Guangdong Province,China [4]Hunan Key Laboratory of The Research and Development of Novel Pharmaceutical Preparations,Changsha Medical University,Changsha 410219,Hunan Province,China

出　　处：《World Journal of Clinical Cases》2023年第2期464-471,共8页世界临床病例杂志

基　　金：Supported by Shenzhen Science and Technology Project,No. SGLH20180628161804465;The Clinical Research Project of The First Affiliated Hospital of Shenzhen University,No. 20203357035 and No. 20223357021。

摘　　要：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 Xlinked 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.

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

分 类 号：R563.1[医药卫生—呼吸系统]