急性听觉失认症与线粒体脑肌病  

Acute Auditory Agnosia Resulted from MELAS Syndrome

作　　者：张志坚[1] 朱明万[1] 谢宝君[2] 廖华[1] 江洋[1] 周涛[1] 杨希林[1] 华清泉[1] 

机构地区：[1]武汉大学人民医院耳鼻咽喉头颈外科,武汉430060 [2]武汉大学人民医院放射科,武汉430060

出　　处：《听力学及言语疾病杂志》2017年第6期571-574,共4页Journal of Audiology and Speech Pathology

基　　金：国家自然科学基金面上项目(81271073);教育部留学回国基金(302-153775)资助

摘　　要：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。Objective To investigate the clinical features,etiology,diagnosis and treatment of acute auditory agnosia.Methods We studied the clinical manifestation,diagnosis and treatment of acute auditory agnosia in a patient in our hospital.Results A 28 year oldyoung woman visited our department because she suffered from the tinnitus for 7 days and she could not distinguish the semantics for 1 day.There were no other abnormal symptoms in the central and peripheral nervous system on admission.Audiological testing showed normal,language testing showed that the speech discrimination score was zero.MRI showed extensive damage to temporal lope.MR spectroscopy revealed increased lactate and reduced N-acetyl aspartate.Acute auditory agnosia resulted from mitochondrial myopathy was considered.After symptomatic treatment,the symptoms were significantly improved.Molecular genetics examination showed the A3243G mtDNA mutation,further confirmed the diagnosis of mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes(MELAS)syndrome.Conclusion Acute auditory agnosia and acute tinnitus can be the first symptoms in MELAS,thus,MELAS should be suspected in patients with acute auditory agnosia,acute tinnitus,sudden hearing loss in children and youth.Imaging examination plays an important role in the etiological diagnosis of acute auditory agnosia.

关 键 词：急性听觉失认症 耳鸣 线粒体脑肌病伴高乳酸血症和卒中样发作综合征 言语识别率 颅脑波谱成像 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]