PDF(Pubmed)
Abstract：
UNASSIGNED: There is growing evidence that severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) or COVID-19 infection is associated with the development of immune mediated neuropathies like chronic inflammatory demyelinating polyneuropathy (CIDP), but the impact of SARS-CoV-2 vaccination and COVID-19 infection on genetic disorders such as Charcot-MarieTooth (CMT) remains unclear.
UNASSIGNED: A 42-year-old male with occulted CMT neuropathy type lA (CMT1A) who developed limb numbness and weakness after the second SARS-CoV-2-vaccination was confirmed by identifying characteristic repeats in the p11.2 region of chromosome 17. Due to the progressive deterioration of muscle strength over 8 weeks, limb atrophy, moderately elevated protein counts in the cerebrospinal fluid, and significant improvement with intravenous human immunoglobulin, which were characteristic of acquired inflammatory neuropathies, he was eventually diagnosed with CIDP superimposed on CMT1A. However, after a three-month plateau, the patient contracted COVID-19, which led to repeated and worsening symptoms of limb weakness and atrophy, thus was diagnosed with a recurrence of CIDP and treated with Intravenous immunoglobulin and methylprednisolone 500 mg/d for 5 consecutive days, followed by oral prednisone and mycophenolate mofetil tablets. On 2 month follow-up, he exhibited remarkable clinical improvement and could walk independently with rocking gait. After 1 year of follow-up, the patient\'s condition was stable without further change.
UNASSIGNED: Our case indicates that CMT1A can deteriorate after SARS-CoV-2 vaccination. Thus, SARS-CoV-2 vaccination should be considered a potential predisposing factor for CMT1A worsening. The possible superposition of CMTIA and CIDP in the context of SARS-CoV-2 infection or immunity suggests that any clinical exacerbation in patients with CMT1A should be carefully evaluated to rule out treatable superposition inflammation. In addition, electrophysiological and imaging examination of the proximal nerves, such as the axillary nerve, is helpful for the diagnosis of CIDP.
UNASSIGNED: A 42-year-old male with occulted CMT neuropathy type lA (CMT1A) who developed limb numbness and weakness after the second SARS-CoV-2-vaccination was confirmed by identifying characteristic repeats in the p11.2 region of chromosome 17. Due to the progressive deterioration of muscle strength over 8 weeks, limb atrophy, moderately elevated protein counts in the cerebrospinal fluid, and significant improvement with intravenous human immunoglobulin, which were characteristic of acquired inflammatory neuropathies, he was eventually diagnosed with CIDP superimposed on CMT1A. However, after a three-month plateau, the patient contracted COVID-19, which led to repeated and worsening symptoms of limb weakness and atrophy, thus was diagnosed with a recurrence of CIDP and treated with Intravenous immunoglobulin and methylprednisolone 500 mg/d for 5 consecutive days, followed by oral prednisone and mycophenolate mofetil tablets. On 2 month follow-up, he exhibited remarkable clinical improvement and could walk independently with rocking gait. After 1 year of follow-up, the patient\'s condition was stable without further change.
UNASSIGNED: Our case indicates that CMT1A can deteriorate after SARS-CoV-2 vaccination. Thus, SARS-CoV-2 vaccination should be considered a potential predisposing factor for CMT1A worsening. The possible superposition of CMTIA and CIDP in the context of SARS-CoV-2 infection or immunity suggests that any clinical exacerbation in patients with CMT1A should be carefully evaluated to rule out treatable superposition inflammation. In addition, electrophysiological and imaging examination of the proximal nerves, such as the axillary nerve, is helpful for the diagnosis of CIDP.
摘要：
■越来越多的证据表明，严重急性呼吸道综合征冠状病毒-2（SARS-CoV-2）或COVID-19感染与免疫介导的神经病如慢性炎症性脱髓鞘性多发性神经病（CIDP）的发展有关，但是SARS-CoV-2疫苗接种和COVID-19感染对诸如Charcot-MarieTooth（CMT）等遗传性疾病的影响尚不清楚。
■一名42岁男性，患有隐藏的CMT神经病变lA型（CMT1A），在第二次SARS-CoV-2疫苗接种后出现肢体麻木和无力，通过鉴定17号染色体p11.2区域的特征性重复序列得到证实。由于肌肉力量在8周内逐渐恶化，肢体萎缩,脑脊液中的蛋白质计数适度升高，静脉注射人免疫球蛋白的显着改善，这是获得性炎症性神经病的特征，他最终被诊断为CMT1A叠加CIDP。然而,在经历了三个月的高原之后，患者感染了COVID-19，导致肢体无力和萎缩的症状反复恶化，因此诊断为CIDP复发，并连续5天静脉注射免疫球蛋白和甲基强的松龙500mg/d，其次是口服泼尼松和霉酚酸酯片。在2个月的随访中，他表现出显着的临床改善，可以摇摆步态独立行走。随访1年后,患者病情稳定，无进一步变化。
■我们的案例表明，CMT1A在SARS-CoV-2疫苗接种后会恶化。因此，SARS-CoV-2疫苗接种应被视为CMT1A恶化的潜在诱发因素。在SARS-CoV-2感染或免疫的情况下，CMTIA和CIDP的可能叠加表明，应仔细评估CMT1A患者的任何临床恶化，以排除可治疗的叠加炎症。此外,近端神经的电生理和影像学检查，比如腋下神经，有助于CIDP的诊断。
■一名42岁男性，患有隐藏的CMT神经病变lA型（CMT1A），在第二次SARS-CoV-2疫苗接种后出现肢体麻木和无力，通过鉴定17号染色体p11.2区域的特征性重复序列得到证实。由于肌肉力量在8周内逐渐恶化，肢体萎缩,脑脊液中的蛋白质计数适度升高，静脉注射人免疫球蛋白的显着改善，这是获得性炎症性神经病的特征，他最终被诊断为CMT1A叠加CIDP。然而,在经历了三个月的高原之后，患者感染了COVID-19，导致肢体无力和萎缩的症状反复恶化，因此诊断为CIDP复发，并连续5天静脉注射免疫球蛋白和甲基强的松龙500mg/d，其次是口服泼尼松和霉酚酸酯片。在2个月的随访中，他表现出显着的临床改善，可以摇摆步态独立行走。随访1年后,患者病情稳定，无进一步变化。
■我们的案例表明，CMT1A在SARS-CoV-2疫苗接种后会恶化。因此，SARS-CoV-2疫苗接种应被视为CMT1A恶化的潜在诱发因素。在SARS-CoV-2感染或免疫的情况下，CMTIA和CIDP的可能叠加表明，应仔细评估CMT1A患者的任何临床恶化，以排除可治疗的叠加炎症。此外,近端神经的电生理和影像学检查，比如腋下神经，有助于CIDP的诊断。
