PDF(Pubmed)
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.
METHODS: 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.
CONCLUSIONS: SARS-CoV-2 vaccination could be a predisposing factor for CMTX1 and trigger a sudden presentation.
METHODS: 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.
CONCLUSIONS: SARS-CoV-2 vaccination could be a predisposing factor for CMTX1 and trigger a sudden presentation.
摘要：
背景：严重急性呼吸综合征冠状病毒2（SARS-CoV-2）疫苗接种已在全球范围内进行，偶尔有相关神经系统并发症的报告。具体来说,疫苗接种对X连锁Charcot-Marie-Tooth病1型(CMTX1)患者的影响尚不清楚.在磁共振成像（MRI）上，CMTX1患者可以出现中风样发作并伴有可逆性后部脑病综合征，虽然这是罕见的。
方法：一名39岁男性因发作性失语和吞咽困难入院2d，入院前39d接受SARS-CoV-2疫苗接种。体格检查显示pes腔和肌腱反射降低。脑部MRI显示双侧，对称,限制扩散与T2超信号在大脑半球。神经传导研究显示周围神经损伤。他被诊断出患有Charcot-Marie-Tooth病,以及X染色体上GJB1基因的半合子突变，已知是CMTX1的致病性。最初，我们怀疑短暂性脑缺血发作或脱髓鞘性白质脑病。我们开始了抗血栓治疗和免疫疗法的治疗。出院后1.5个月，脑部MRI显示病变完全消退，没有复发。
结论：SARS-CoV-2疫苗接种可能是CMTX1的诱发因素，并引发突然出现。
方法：一名39岁男性因发作性失语和吞咽困难入院2d，入院前39d接受SARS-CoV-2疫苗接种。体格检查显示pes腔和肌腱反射降低。脑部MRI显示双侧，对称,限制扩散与T2超信号在大脑半球。神经传导研究显示周围神经损伤。他被诊断出患有Charcot-Marie-Tooth病,以及X染色体上GJB1基因的半合子突变，已知是CMTX1的致病性。最初，我们怀疑短暂性脑缺血发作或脱髓鞘性白质脑病。我们开始了抗血栓治疗和免疫疗法的治疗。出院后1.5个月，脑部MRI显示病变完全消退，没有复发。
结论：SARS-CoV-2疫苗接种可能是CMTX1的诱发因素，并引发突然出现。
