急性听觉失认症与线粒体脑肌病

发布时间：2018-06-24 01:14

本文选题：急性听觉失认症 + 耳鸣　；参考：《听力学及言语疾病杂志》2017年06期

【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AG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。
[Abstract]:Objective to investigate the clinical features, etiology, diagnosis and treatment of mitochondrial encephalomyopathy with acute auditory agnosia as its first symptom. Methods the clinical data of a patient with acute auditory agnosia as the first symptom were analyzed retrospectively. The pure tone threshold, acoustic conductance, distortion product and transient otoacoustic emissions, auditory brainstem response were analyzed. The speech recognition rate and the features of temporal bone CT, cranial MRI plain scan and enhancement, craniocerebral functional imaging (diffusion weighted imaging) and craniocerebral spectral imaging (magnetic resonance spectrum Mrs) were analyzed, and the results of molecular genetics and therapeutic effect were analyzed. Results the patient was a 28-year-old female with no other abnormal symptoms and signs in the central and peripheral nervous system after 7 days of tinnitus, and the sound threshold, otoacoustic emission, acoustic conductance and auditory brainstem response were all normal. But the rate of bilateral ear speech recognition was zero, the temporal bone was normal on thin slice CT, the MRI plain scan and enhanced DWI showed bilateral temporal lobe, abnormal signal intensity in the center of the oval circle and Mrs showed that the peak of lactic acid (Lac) in the right temporal lobe was increased and the peak of N 2 acetyl aspartate (NAA) was decreased. The patients were diagnosed as mitochondrial encephalomyopathy after consultation with the Department of Neurology. After more than two months of comprehensive treatment, such as promoting mitochondrial circulation, improving brain cell metabolism, activating cerebral vessels, nourishing nerves and clearing free radicals, the symptoms of the patients were obviously improved. The area of lesion was obviously smaller on brain MRI than before treatment. The results of molecular genetics showed that AG point mutation occurred at site 3243 of mtDNA. The patients were further diagnosed as mitochondrial encephalomyopathy with hyperlactic acidemia and (mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes-MELAS syndrome. Conclusion Acute auditory agnosia and acute tinnitus may be the first symptoms of mitochondrial encephalomyopathy with hyperlactic acidemia and stroke-like attack (MELAS) syndrome, and acute tinnitus may be associated with acute auditory agnosia, acute tinnitus, acute auditory agnosia and acute tinnitus. Children and young patients should be alert to the existence of mitochondrial encephalomyopathy imaging examination plays an important role in the etiological diagnosis of acute auditory agnosia and molecular genetic examination is the main method for diagnosis of MELAS syndrome.
【作者单位】：武汉大学人民医院耳鼻咽喉头颈外科;武汉大学人民医院放射科;
【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
【分类号】：R741;R764

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