目的探讨以急性听觉失认症为首发症状的线粒体脑肌病的临床特点、病因、诊断和治疗。方法回顾性分析1例以急性听觉失认症为首发症状的线粒体脑肌病患者的临床资料、对其纯音听阈、声导抗、畸变产物及瞬态耳声发射、听性脑干反应、言语...目的探讨以急性听觉失认症为首发症状的线粒体脑肌病的临床特点、病因、诊断和治疗。方法回顾性分析1例以急性听觉失认症为首发症状的线粒体脑肌病患者的临床资料、对其纯音听阈、声导抗、畸变产物及瞬态耳声发射、听性脑干反应、言语识别率及颞骨CT、头颅MRI平扫加增强、颅脑功能成像(diffusion weighted imaging,DWI)和颅脑波谱成像(magnetic resonance spectrum,MRS)检查特点进行分析,并分析其分子遗传学检查结果及治疗效果。结果患者为28岁女性,耳鸣7天无法辨别语意1天,无其他中枢及周围神经系统的异常症状和体征;双耳纯音听阈、耳声发射、声导抗、听性脑干反应检查均正常,但双耳言语识别率为零;颞骨薄层CT正常,头颅MRI平扫加增强DWI检查显示双侧颞叶、半卵圆中心异常信号,MRS示右侧颞叶病灶区乳酸(Lac)峰升高,N2乙酰天门冬氨酸(NAA)峰降低;经神经内科会诊确诊为线粒体脑肌病,给予促进线粒体循环、改善脑细胞代谢、活化脑血管、营养神经及清除自由基等综合治疗2月余后,患者症状明显改善,基本可听清言语,无语言理解及表达困难,复查头颅MRI显示病灶范围较治疗前明显减小;分子遗传学检查结果为mtDNA第3243位点发生A>G点突变,进一步确诊为线粒体脑肌病伴高乳酸血症和卒中样发作(mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes,MELAS)综合征。结论急性听觉失认症和急性耳鸣可以是线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)综合征的首发症状;对急性听觉失认症、急性耳鸣、儿童及青年患者应警惕线粒体脑肌病的存在;影像学检查对急性听觉失认症的病因诊断有重要作用,分子遗传学检查是诊断MELAS综合征的主要手段。展开更多
Extrapontine myelinolysis and pure word deafness are very uncommon disorders.Here,we report a case of a 19-year-old woman who suffered from osmotic demyelination syndrome with coincidence of typical pure word deafness...Extrapontine myelinolysis and pure word deafness are very uncommon disorders.Here,we report a case of a 19-year-old woman who suffered from osmotic demyelination syndrome with coincidence of typical pure word deafness.As a consequence of rapid correction of hyponatremia,the patient demonstrated an initial onset of cortical deafness,and then progressed to generalized auditory agnosia,which eventually developed into confined verbal auditory agnosia(pure word deafness) .Bilateral extrapontine myelinolysis was confirmed using brain magnetic resonance imaging.This case suggests that verbal and nonverbal stimuli may involve separate thalamocortical pathways.展开更多
The COVID-19 pandemic has strained health systems all over the world. The SARS-CoV-2 which causes the disease is a corona virus that predominantly affects the respiratory systems. Since the outbreak of the novel disea...The COVID-19 pandemic has strained health systems all over the world. The SARS-CoV-2 which causes the disease is a corona virus that predominantly affects the respiratory systems. Since the outbreak of the novel disease in December, 2019 the scientific world has intensified efforts to elucidate its pathophysiology, mode of transmission, clinical manifestations, best mode of prevention and treatment options. Very little is known about its neuropathophysiology even though a significant number<span style="font-family:Verdana;"></span><span><span><span style="font-family:;" "=""> of patients come down with obvious neurological signs and symptoms. The virus has been reported to affect the nerves, muscles, the special senses and the central nervous system with a wide range of clinical manifestations. The mechanisms by which the virus cause</span></span></span><span><span><span><span style="font-family:;" "="">s</span></span></span></span><span><span><span><span style="font-family:;" "=""> all these are still not clear. This article attempts to review and articulate all possible existing theories surrounding the neurological effects of COVID-19.</span></span></span></span>展开更多
文摘目的探讨以急性听觉失认症为首发症状的线粒体脑肌病的临床特点、病因、诊断和治疗。方法回顾性分析1例以急性听觉失认症为首发症状的线粒体脑肌病患者的临床资料、对其纯音听阈、声导抗、畸变产物及瞬态耳声发射、听性脑干反应、言语识别率及颞骨CT、头颅MRI平扫加增强、颅脑功能成像(diffusion weighted imaging,DWI)和颅脑波谱成像(magnetic resonance spectrum,MRS)检查特点进行分析,并分析其分子遗传学检查结果及治疗效果。结果患者为28岁女性,耳鸣7天无法辨别语意1天,无其他中枢及周围神经系统的异常症状和体征;双耳纯音听阈、耳声发射、声导抗、听性脑干反应检查均正常,但双耳言语识别率为零;颞骨薄层CT正常,头颅MRI平扫加增强DWI检查显示双侧颞叶、半卵圆中心异常信号,MRS示右侧颞叶病灶区乳酸(Lac)峰升高,N2乙酰天门冬氨酸(NAA)峰降低;经神经内科会诊确诊为线粒体脑肌病,给予促进线粒体循环、改善脑细胞代谢、活化脑血管、营养神经及清除自由基等综合治疗2月余后,患者症状明显改善,基本可听清言语,无语言理解及表达困难,复查头颅MRI显示病灶范围较治疗前明显减小;分子遗传学检查结果为mtDNA第3243位点发生A>G点突变,进一步确诊为线粒体脑肌病伴高乳酸血症和卒中样发作(mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes,MELAS)综合征。结论急性听觉失认症和急性耳鸣可以是线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)综合征的首发症状;对急性听觉失认症、急性耳鸣、儿童及青年患者应警惕线粒体脑肌病的存在;影像学检查对急性听觉失认症的病因诊断有重要作用,分子遗传学检查是诊断MELAS综合征的主要手段。
基金Project supported by the Science Research Foundation of the Ministry of Health of China(No.WKJ2010-2-009)the Science and Technology Department of Zhejiang Province(No.2007C33007)+1 种基金the Key Project of Education Department of Zhejiang Province(No.Z2008 05185)the Natural Science Foundation of Zhejiang Province(No. Y2080132),China
文摘Extrapontine myelinolysis and pure word deafness are very uncommon disorders.Here,we report a case of a 19-year-old woman who suffered from osmotic demyelination syndrome with coincidence of typical pure word deafness.As a consequence of rapid correction of hyponatremia,the patient demonstrated an initial onset of cortical deafness,and then progressed to generalized auditory agnosia,which eventually developed into confined verbal auditory agnosia(pure word deafness) .Bilateral extrapontine myelinolysis was confirmed using brain magnetic resonance imaging.This case suggests that verbal and nonverbal stimuli may involve separate thalamocortical pathways.
文摘The COVID-19 pandemic has strained health systems all over the world. The SARS-CoV-2 which causes the disease is a corona virus that predominantly affects the respiratory systems. Since the outbreak of the novel disease in December, 2019 the scientific world has intensified efforts to elucidate its pathophysiology, mode of transmission, clinical manifestations, best mode of prevention and treatment options. Very little is known about its neuropathophysiology even though a significant number<span style="font-family:Verdana;"></span><span><span><span style="font-family:;" "=""> of patients come down with obvious neurological signs and symptoms. The virus has been reported to affect the nerves, muscles, the special senses and the central nervous system with a wide range of clinical manifestations. The mechanisms by which the virus cause</span></span></span><span><span><span><span style="font-family:;" "="">s</span></span></span></span><span><span><span><span style="font-family:;" "=""> all these are still not clear. This article attempts to review and articulate all possible existing theories surrounding the neurological effects of COVID-19.</span></span></span></span>
