肺炎支原体脑炎是儿童感染MP后最常见的神经系统并发症,发病机制虽未明确,但直接侵入损伤、免疫介导损伤及血管闭塞等理论得到深入探究,为诊疗提供了理论基础。同其他脑炎相比,其临床特点缺乏特异性,传统的培养、PCR在脑脊液中检出率低...肺炎支原体脑炎是儿童感染MP后最常见的神经系统并发症,发病机制虽未明确,但直接侵入损伤、免疫介导损伤及血管闭塞等理论得到深入探究,为诊疗提供了理论基础。同其他脑炎相比,其临床特点缺乏特异性,传统的培养、PCR在脑脊液中检出率低,血清学检测方法在敏感性和特异性上存在局限,所以MPIE尚无统一的诊断标准。在治疗方面,以抗肺炎支原体治疗为主,糖皮质激素、IVIG、血浆置换等免疫调节治疗的疗程、疗效、安全性等仍在进一步探索中。因此,本文从肺炎支原体脑炎的发病机制、临床表现、病原学检测、脑电图、颅脑MRI、治疗等方面进行综述,为临床医生的诊治提供思路及参考。Mycoplasma Pneumoniae Encephalitis (MPIE) is the most common neurological complication in children after Mycoplasma Pneumoniae (MP) infection. Although the pathogenesis remains unclear, theories such as direct invasive injury, immune-mediated injury, and vascular occlusion have been deeply explored, providing a theoretical basis for diagnosis and treatment. Compared with other types of encephalitis, its clinical features lack specificity. The detection rates of traditional culture and PCR in cerebrospinal fluid are low, and serological detection methods have limitations in sensitivity and specificity. Therefore, there is still no unified diagnostic standard for MPIE. In terms of treatment, anti-MP treatment is the main approach, and the treatment courses, efficacy, and safety of immunomodulatory therapies such as glucocorticoids, Intravenous Immunoglobulin (IVIG), and plasma exchange are still being further explored. Therefore, this article reviews the pathogenesis, clinical manifestations, etiological detection, electroencephalogram, cranial MRI, and treatment of MPIE, in order to provide ideas and references for clinical diagnosis and treatment.展开更多
目的报道CACNA1E基因变异所致难治性癫痫的临床特征。方法回顾分析1例CACNA1E基因变异所致难治性癫痫患儿的临床资料。结果患儿,男,1岁6个月,因难治性癫痫伴智力运动发育落后就诊。患儿四肢肌张力降低,有严重的癫痫脑病表现,基因检测提...目的报道CACNA1E基因变异所致难治性癫痫的临床特征。方法回顾分析1例CACNA1E基因变异所致难治性癫痫患儿的临床资料。结果患儿,男,1岁6个月,因难治性癫痫伴智力运动发育落后就诊。患儿四肢肌张力降低,有严重的癫痫脑病表现,基因检测提示患儿携带CACNA1E基因c.4258(exon 30)G>A(NM_001205293)新发杂合变异,而其父母该位点均为野生型。根据ACMG(The American College of Medical Genetics and Genomics)标准与指南(2015),该变异为可能致病性变异。结论对难治性癫痫伴有智力运动发育落后、四肢肌张力低下的患儿应尽早完善基因检测,以明确诊断。展开更多
文摘肺炎支原体脑炎是儿童感染MP后最常见的神经系统并发症,发病机制虽未明确,但直接侵入损伤、免疫介导损伤及血管闭塞等理论得到深入探究,为诊疗提供了理论基础。同其他脑炎相比,其临床特点缺乏特异性,传统的培养、PCR在脑脊液中检出率低,血清学检测方法在敏感性和特异性上存在局限,所以MPIE尚无统一的诊断标准。在治疗方面,以抗肺炎支原体治疗为主,糖皮质激素、IVIG、血浆置换等免疫调节治疗的疗程、疗效、安全性等仍在进一步探索中。因此,本文从肺炎支原体脑炎的发病机制、临床表现、病原学检测、脑电图、颅脑MRI、治疗等方面进行综述,为临床医生的诊治提供思路及参考。Mycoplasma Pneumoniae Encephalitis (MPIE) is the most common neurological complication in children after Mycoplasma Pneumoniae (MP) infection. Although the pathogenesis remains unclear, theories such as direct invasive injury, immune-mediated injury, and vascular occlusion have been deeply explored, providing a theoretical basis for diagnosis and treatment. Compared with other types of encephalitis, its clinical features lack specificity. The detection rates of traditional culture and PCR in cerebrospinal fluid are low, and serological detection methods have limitations in sensitivity and specificity. Therefore, there is still no unified diagnostic standard for MPIE. In terms of treatment, anti-MP treatment is the main approach, and the treatment courses, efficacy, and safety of immunomodulatory therapies such as glucocorticoids, Intravenous Immunoglobulin (IVIG), and plasma exchange are still being further explored. Therefore, this article reviews the pathogenesis, clinical manifestations, etiological detection, electroencephalogram, cranial MRI, and treatment of MPIE, in order to provide ideas and references for clinical diagnosis and treatment.
文摘目的报道CACNA1E基因变异所致难治性癫痫的临床特征。方法回顾分析1例CACNA1E基因变异所致难治性癫痫患儿的临床资料。结果患儿,男,1岁6个月,因难治性癫痫伴智力运动发育落后就诊。患儿四肢肌张力降低,有严重的癫痫脑病表现,基因检测提示患儿携带CACNA1E基因c.4258(exon 30)G>A(NM_001205293)新发杂合变异,而其父母该位点均为野生型。根据ACMG(The American College of Medical Genetics and Genomics)标准与指南(2015),该变异为可能致病性变异。结论对难治性癫痫伴有智力运动发育落后、四肢肌张力低下的患儿应尽早完善基因检测,以明确诊断。
