本文選題：急性聽覺失認(rèn)癥 + 耳鳴��； 參考：《聽力學(xué)及言語疾病雜志》2017年06期

【摘要】：目的探討以急性聽覺失認(rèn)癥為首發(fā)癥狀的線粒體腦肌病的臨床特點(diǎn)、病因、診斷和治療。方法回顧性分析1例以急性聽覺失認(rèn)癥為首發(fā)癥狀的線粒體腦肌病患者的臨床資料、對其純音聽閾、聲導(dǎo)抗、畸變產(chǎn)物及瞬態(tài)耳聲發(fā)射、聽性腦干反應(yīng)、言語識(shí)別率及顳骨CT、頭顱MRI平掃加增強(qiáng)、顱腦功能成像(diffusion weighted imaging,DWI)和顱腦波譜成像(magnetic resonance spectrum,MRS)檢查特點(diǎn)進(jìn)行分析,并分析其分子遺傳學(xué)檢查結(jié)果及治療效果。結(jié)果患者為28歲女性,耳鳴7天無法辨別語意1天,無其他中樞及周圍神經(jīng)系統(tǒng)的異常癥狀和體征;雙耳純音聽閾、耳聲發(fā)射、聲導(dǎo)抗、聽性腦干反應(yīng)檢查均正常,但雙耳言語識(shí)別率為零;顳骨薄層CT正常,頭顱MRI平掃加增強(qiáng)DWI檢查顯示雙側(cè)顳葉、半卵圓中心異常信號(hào),MRS示右側(cè)顳葉病灶區(qū)乳酸(Lac)峰升高,N2乙酰天門冬氨酸(NAA)峰降低;經(jīng)神經(jīng)內(nèi)科會(huì)診確診為線粒體腦肌病,給予促進(jìn)線粒體循環(huán)、改善腦細(xì)胞代謝、活化腦血管、營養(yǎng)神經(jīng)及清除自由基等綜合治療2月余后,患者癥狀明顯改善,基本可聽清言語,無語言理解及表達(dá)困難,復(fù)查頭顱MRI顯示病灶范圍較治療前明顯減小;分子遺傳學(xué)檢查結(jié)果為mtDNA第3243位點(diǎn)發(fā)生AG點(diǎn)突變,進(jìn)一步確診為線粒體腦肌病伴高乳酸血癥和卒中樣發(fā)作(mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes,MELAS)綜合征。結(jié)論急性聽覺失認(rèn)癥和急性耳鳴可以是線粒體腦肌病伴高乳酸血癥和卒中樣發(fā)作(MELAS)綜合征的首發(fā)癥狀;對急性聽覺失認(rèn)癥、急性耳鳴、兒童及青年患者應(yīng)警惕線粒體腦肌病的存在;影像學(xué)檢查對急性聽覺失認(rèn)癥的病因診斷有重要作用,分子遺傳學(xué)檢查是診斷MELAS綜合征的主要手段。
[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.
【作者單位】： 武漢大學(xué)人民醫(yī)院耳鼻咽喉頭頸外科;武漢大學(xué)人民醫(yī)院放射科;
【基金】：國家自然科學(xué)基金面上項(xiàng)目(81271073) 教育部留學(xué)回國基金(302-153775)資助
【分類號(hào)】：R741;R764

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