A case of Creutzfeldt-Jakob disease presenting with auditory agnosia as an initial manifestation
A case of Creutzfeldt-Jakob disease presenting with auditory agnosia as an initial manifestation
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DOI：
10.1159/000008250
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发表时间：
2000-01-01
影响因子：
2.4
通讯作者：
Mizusawa, H
中科院分区：
文献类型：
--
作者：
Orimo, S;Ozawa, E;Mizusawa, H
病例报告一位7岁右利手的男性因进行性双侧听力丧失而入院。1996年3月初，他第一次注意到左侧耳鸣（就像飞机起飞时的噪音）和轻微的听力损失。他于3月12日来到关东中央医院，当时他可以自主正常说话和写作。也没有痴呆症进一步.右耳也出现耳鸣和听力损失。他的听觉症状恶化，于3月24日入院。他的病历显示，他于九月十日接受恶性黑色素瘤手术。1990. 1993年，他被指出患有糖尿病和高血压，通过饮食治疗，他的病情得到了很好的控制。家族史无异常。除恶性黑色素瘤术后状态外，包括外耳道和鼓膜在内的体格检查未见异常。神经系统检查显示无痴呆。双侧听力损失。深腱反射除跟腱反射减弱外均正常。小脑、感觉和自主神经系统正常。以下检查显示正常或阴性结果：常规生化检查，但空腹血糖升高（163 mg/dl）除外。血液学尿检血清学检测胸部X光片和心电图脑脊液显示单核细胞/mm，蛋白质0.39 g/l，神经元特异性烯醇化酶（NSE）41 ng/ml（正常范围：104= 4.0 ng/ml）。朊病毒蛋白（Prp）基因的分析。如前所述[1]分析PrP基因的开放阅读框（ORF）。ORF中没有突变。PrP基因的多态位点。密码子129为Met纯合。密码子219为Glu纯合型。5月8日脑电图（EEG）显示弥漫性慢波，无α波，6月10日0.5-0.7 Hz周期性同步放电（PSD）。3月19日、4月10日听性脑干反应（ABR）均正常。4月10日进行的慢顶反应（SVR）和中潜伏期反应（MLR）正常。3月19日的流感疫苗接种。纯音水平在他这个年龄的正常范围内。相比之下。使用单音节词进行言语测听。言语辨别率为25%（60 dB）。30%（70 dB）。右耳为45%（80-90 dB）。0%（60-80 dB）和|（）%（90 dB）。四月一日。左耳的纯音水平略有下降（平均; 55 dB）。言语测听，右耳言语辨别力为15%（100dB），左耳言语辨别力为5%（100dB）。核磁共振成像。三月三十一日。T1加权脑MRI（TR 500. TE 20）显示颞叶轻微萎缩，在与中脑接触的四叠体池中有一个偶发性脂肪瘤
Case Report A 7 l-year-old right-handed man was admitted for evaluation of progressive bilateral hearing loss. He first noticed left tinnitus (like a noise when an airplane takes off) and mild hcaring loss at the beginning of March in 1996. He came to Kanto Central Hospital on March l 2, when he could speak and write normally on his own initiative. and had no dementia. Further. tinnitus and hearing loss also occurred in the right ear. His auditory symptoms worsened and he was admitted to this hospital on March 24. Past history showed that he underwent a surgical operation of a malignant melanoma on September 10. 1990. Diabetes mellitus and hypertension were pointed out in 1993, and he was well controlled by diet therapy. Familial history was unremarkable. Physical examination including external auditory meati and tympantic membranes revealed no abnormality except for postoperative state of the malignant melanoma. Neurological examination revealed no dementia. bilateral hearing loss. and normal deep tendon reflexes except for decreased Achilles tendon reflexes. Cerebellar, sensory, and autonomic systems were normal. The following investigations showed normal or negative results: routine biochemistry except for elevated fast blood sugar (163 mg/dl). hematology. urinalysis, serological tests. chest rocntgenogram, and electrocardiogram. Cerebrospinal fluid revealed l mononuclear cell per mm. 0.39 g/l protein and 4l ng/ml neuron-specific enolase (NSE)(normal range: 104= 4.0 ng/ml). Analysis of the Prion Protein (Prp) Gene. The open reading frame (ORF) of the PrP gene was analyzed as previously described [1]. There was no mutation in the ORF. For polymorph sites of the PrP gene. codon l 29 was homozygous for Met. and codon 2 19 was homozygous for Glu.Electrophysiological Examination. Electroencephalogram (EEG) revealed diffuse slow wave without alpha wave on May 8, and 0.5–0.7 Hz periodic synchronous discharge (PSD) on June 10. Auditory brainstem response (ABR) performed on March l 9 and April 10 were normal. Slow vertex responses (SVR) and middle latency responses (MLR) performed on April 10 were normal.-liidiological Evamination On March 19. the pure tone level was within normal limits for his age. By contrast. on speech audiometry using monosyllabic words. the speech discrimination was 25%(60 dB). 30%(70 dB). and 45%(80–90 dB) in the right ear. 0%(60–80 dB) and|()%(90 dB) in the left ear. On April 1. the pure tone level decreased slightly in the left ear (average; 55 dB). and on the speech audiometry, the speech discrimination was 15%(100 dB) in the right ear and 5%(100 dB) in the left car. Brgi MRI. On March 31. T1-weighted brain MRI (TR 500. TE 20) revealed slight atrophy of the temporal lobes and an incidental lipoma in the quadrigeminal cistern contacting the midbrain