多系统萎缩的早期综合诊断

目的:探讨多系统萎缩(multiple system atrophy,MSA)患者的临床表现及神经影像学新特征(脑桥"十字征"和"壳核裂隙征")在MSA早期诊断中的临床意义。方法:回顾性分析21例临床诊断为多系统萎缩(MSA)患者的临床表现和头部MRI资料。结果:21例MSA患者中,Shy-Drager综合征(MSA-A)9例,早期临床表现为体位性低血压,泌尿生殖功能障碍,头部MRI检查脑桥"壳核裂隙征"和"十字征"为Ⅰ期;橄榄体脑桥小脑萎缩(MSA-C)5例,3例发病后1年头部MRI脑桥"十字征"达Ⅱ期;"壳核裂隙征"为Ⅰ期,2例发病后3年头部MRI脑桥"十字征"达Ⅳ期。黑质纹状体变性(MSA-P)7例:早期临床均有运动迟缓、震颤等表现,3例发病后1年脑桥"十字征"Ⅰ期,"壳核裂隙征"Ⅲ期;3例发病后2年脑桥"十字征"Ⅰ期,"壳核裂隙征"Ⅰ期;另1例发病后9月脑桥"十字征"Ⅰ期",壳核裂隙征"Ⅱ期。结论:认为临床表现与头部MRI检查显示的新的影像学特征结合有助于MSA早期诊断。     

85例多系统萎缩患者预后影响因素的分析

目的:探讨多系统萎缩(multiple system atrophy,MSA)患者预后的影响因素。方法:连续收集2016年1月到2019年1月空军军医大学第一附属医院神经内科住院及门诊收治的85名临床确诊MSA患者的临床资料,每隔6月对患者进行随访记录,直至需辅助行走时间,研究时限3.5年,筛选10个可能影响MSA独立行走的危险因素,应用Cox比例风险回归模型进行单因素及多因素回归分析。结果:85例MSA患者中,很可能MSA38例(44.7%),可能MSA47例(55.3%),以帕金森表现(MSA-P)43例(50.6%),以小脑性共济失调表现(MSA-C)42例(49.4%),男性46例(54.1%),女性39例(45.9%),起病年龄54.7±8.8岁,首发运动症状30例(35.3%),首发非运动症状55例(64.7%)。起病至非运动症状合并运动症状中位时程27.9(11.5, 40.5)月。截至本研究终止,28例(32.9%)患者独立行走,57例(67.1%)患者不能独立行走,起病至辅助行走中位时程36.0(22.5, 54.0)月。Cox比例风险回归模型显示起病年龄大(HR=1.041, 95%CI 1.000-1.083, P=0.049)、HY高分期(HR=2.015,95%CI 1.031-3.938,P=0.040)、起病至非运动症状合并运动症状短时程(HR=0.980,95%CI 0.967-0.993, P=0.003)是MSA患者发展至辅助行走状态的危险因素。结论:起病年龄大、HY高分期、起病至非运动症状合并运动症状短时程是MSA患者辅助行走的不良预后因素。     

高分辨率CT与常规CT检查对肺小结节及早期肺癌诊断价值的对比研究

目的:对比高分辨率电子计算机断层扫描(CT)与常规CT检查对肺小结节及早期肺癌的诊断价值。方法:将2018年6月2020年1月我院收治的肺小结节及早期肺癌患者94例纳入研究。以随机数字表法将其分为观察组及对照组,每组各47例,对照组实施常规CT检查,观察组则实施高分辨率CT检查。比较两组CT肿瘤征象情况(主要包括毛刺征、分叶征、棘突征、钙化征、空泡征、支气管征、胸膜凹陷征、血管集束征),CT扫描图像质量,诊断肺小结节及早期肺癌的效能。结果:观察组各项CT肿瘤征象人数占比均高于对照组(P<0.05)。观察组CT扫描图像质量优良率为97.87%(46/47),高于对照组的72.34%(34/47)(P<0.05)。高分辨率CT诊断早期肺癌的灵敏度及准确度、特异度分别为96.67%(29/30)、95.74%(45/47)、94.12%(16/17),高于常规CT检查的74.19%(23/31)、74.47%(35/47)、75.00%(12/16)。结论:高分辨率CT检查对肺小结节及早期肺癌诊断价值显著高于常规CT检查,可作为临床肺小结节及早期肺癌诊断的有效影像学手段,值得临床应用。     

人类疱疹病毒8型ORF75基因亚型在鳞癌中的分布

目的:明确鳞癌感染人类疱疹病毒8型(HV-8)ORF75基因亚型分类并初步探讨其与鳞癌的相关性。方法:对40例皮肤鳞癌、46例食管鳞癌石蜡包埋组织进行HHV-8 DNA抽提、扩增、双向测序,使用DNASTAR软件、Crustal W软件和PHYLIP软件包对测序结果进行系统发生学分析,从而确定HHV-8 ORF75基因亚型,最后运用Fisher确切概率法对结果进行统计学分析。结果:①40例皮肤鳞癌有10例HHV-8感染为阳性,阳性率为25.0%;46例食管鳞癌有12例为阳性,阳性率为26.1%.②皮肤鳞癌感染HHV-8 ORF75亚型6例为A亚型,4例为C亚型;食管鳞癌感染HHV-8 ORF75亚型8例为A亚型,4例为C亚型③鳞癌感染HHV-8 ORF75基因亚型与鳞癌患者感染部位及病理分级之间没有统计学意义(P>0.05)。结论:鳞癌患者感染HHV-8 ORF75亚型属于A亚型和C亚型;鳞癌感染HHV-8 ORF75基因亚型与鳞癌患者感染部位及病理分级无关。     

CT联合DR对早期周围型肺癌的诊断价值

目的:分析数字X线摄片(DR)、CT及其联合应用对周围型肺癌的诊断价值。方法:选择该院2012年2月~2016年3月收治早期周围型肺癌患者90例为研究对象,分别进行数字化X线摄影和CT检查,以手术切除或病理结果为最终诊断的金标准,计算两种检查方法及其联合对早期诊断周围型肺癌的敏感度、特异度和准确率阳性预测值以及阴性预测值。结果:胸部DR检出空泡征者7例(7.8%),分叶征47例(52.2%),边缘有细小毛刺征36例(40%),胸膜凹陷征9例(10%);CT见病变边缘分叶征71例(78.8%),长短毛刺征57例(63.3%),空洞征27例(30%),胸膜凹陷征32例(35.6%)。DR诊断周围型肺癌的敏感性、特异性及准确性分别为85%、81%、85.6%,而CT则为90%,87.6%,90.5%,均高于DR。DR与CT两者联合诊断周围型肺癌的敏感性为98.4%,显著高于DR(85%)和CT(90%)。结论:在早期周围型肺癌的影像学诊断中,CT的临床价值显著优于DR,而两者联合诊断的临床价值明显优于单独检测。     

急性肠系膜缺血性疾病的CT影像特征及诊断价值

目的:总结急性肠系膜缺血(AMI)的临床资料及CT影像特征并探讨多层螺旋CT(multi-slice spiral computed tomography,MSCT)对该病的诊断价值。方法:回顾性分析经临床或手术证实的54例AMI患者的CT和临床资料,包括其发病时间、主要症状、体征、相关实验室检查指标,评价并分析异常的MSCT表现。结果:54例均以非特异性腹痛为首发症状,其中肠系膜上静脉血栓形成(SMVT)38例,肠系膜上动脉栓塞(SMAE)12例,肠系膜上动脉血栓形成(SMAT)4例。MSCT诊断AMI的直接征象为血管内充盈缺损(43例),间接征象包括:肠壁增厚35例,"靶征"16例,肠管扩张20例,"缆绳征"22例,肠壁积气征13例,"薄壁样征"12例,腹腔积液34例。结论:AMI的临床表现缺乏特异性,MSCT检查可准确诊断AMI并明确缺血程度、范围,对指导治疗具有较高的应用价值。     

49例儿童暴发性心肌炎的临床特点与预后

目的:探讨儿童暴发性心肌炎的临床特点及与预后的关系。方法:回顾性分析患者病史、ECG、UCG、CMR、血清学检查资料及随访结果,得出影响预后的相关危险因素。结果:共收治49例暴发性心肌炎患者,平均年龄8.89±3.63岁。死亡9例(18.37%),平均存活时间4天,无晚期死亡。以心外表现为首发症状者占83.67%。初诊时血清CK-MB及c Tn I异常检出率分别为51.11%和81.39%,两者同时增高占47.50%。49例患者在疾病初期均存在明显的心电图异常,其中室性心律失常的发生率在恢复组与死亡组间存在明显差异(P=0.020)。恢复组与死亡组LVEF/LVFS降低的发生率分别为62.5%和100%(P=0.157),恢复组LVEF恢复正常平均时间10.22天。恢复组中10例患者在急性期行CMR检查,其中9例符合路易斯湖。所有患者均使用大剂量激素及丙种球蛋白治疗。8例患者安装临时心脏起搏器,4例接受ECOM治疗。恢复组平均随访19.28月,100%临床痊愈。多因素生存分析,最终与死亡有关的危险因素为年龄≤6岁(RR40.215,95%CI(1.285-1258.369))。结论:暴发性心肌炎起病急骤,以心外症状为首发者多见,经及时诊断、治疗的患者有望完全康复。所有患者均存在不同程度心电图异常。多因素生存分析发现年龄≤6岁为死亡的危险因素。     

以急性脑干综合征为首发表现的NMOSD的临床和MRI诊断分析

目的:探讨以急性脑干综合征(ABS)为首发表现的视神经脊髓炎谱系疾病(NMOSD)的临床和MRI表现,以提高对该病的诊断水平。方法:回顾性分析17例首发表现为ABS的NMOSD患者临床资料,包括脑脊液常规、生化及寡克隆区带,血清水通道蛋白4抗体(AQP4-IgG),头颅与脊髓MRI表现,并分析其特点。结果:共纳入男性3例,女性14例,发病年龄20~43岁,平均发病年龄33.5岁,88.2%患者以恶心、呕吐、顽固性呃逆等胃肠症状就诊,发作病程7天~47周,平均8周。脑脊液检查多呈轻中度炎性反应,2例白细胞计数>50×10^6/L。脑脊液蛋白平均0.32 g/L (0.15~1.17 g/L),OBs检测阳性率为11.8%,血清AQP4-IgG阳性率为76.5%。64.7%病例早期MRI表现延髓背侧中央导水管周围异常信号,无明显强化;脊髓未见受累。结论:中青年女性以ABS为首发症状时应警惕NMOSD的可能,脑脊液检查、血清AQP4抗体阳性以及MRI表现具有一定的特征性,有助于早期诊断。     

寰枕间隙侧方穿刺移植脐血单个核细胞治疗多系统萎缩的临床观察

目的观察寰枕间隙侧方穿刺移植脐血单个核细胞治疗多系统萎缩(MSA)的安全性及临床疗效。方法选取聊城市人民医院神经内科10例MSA患者进行寰枕间隙侧方穿刺移植脐血单个核细胞治疗,分别观察治疗后3个月、6个月及1年的UMSARS评分,并随访观察有无不良反应。治疗前后评分比较采用t检验。结果治疗后3个月的UMSARS partⅠ评分(18.0±6.02)、治疗后6个月的UMSARS partⅠ评分(12.6±4.43)和治疗后1年的UMSARS partⅠ评分(12.3±3.20)均明显低于治疗前(25.8±4.80),治疗后3个月的UMSARS partⅡ评分(27.3±8.46)、治疗后6个月的UMSARS partⅡ评分(23.2±7.70)和治疗后1年的UMSARS partⅡ评分(22.4±5.93)均明显低于治疗前(34.5±6.79),治疗后3个月、6个月、1年的UMSARS partⅠ、UMSARS partⅡ评分较治疗前比差异具有统计学意义(P0.01)。除1例患者术后第1天低热,余患者均无不良反应。结论寰枕间隙侧方穿刺注射脐血单个核细胞治疗MSA是相对安全并且有效的治疗方法。     

196例儿童急性肠套叠回顾分析

目的探讨儿童急性肠套叠早期的临床特点和处理原则。方法:选择2010年6月至2012年4月泰安市中心医院收治的196例急性肠套叠患儿作为研究对象,对其临床特点、诊断方法、治疗方法及疾病预后等临床资料进行回顾性分析。结果:患儿年龄:小于4个月14例,4-10个月101例,11-24个月54例,24个月以上27例;144例(34.4%)患儿表现腹痛、呕吐、血便、腹部包块;50例(23.3%)仅有阵发性哭闹;25例(11.6%)仅有呕吐;24例(11.6%)仅有腹泻;7例(3.3%)仅有发热、哭闹;20例(9.3%)有呕吐、腹泻;15例(7.0%)有腹痛、呕吐、腹泻。早期行超声检查诊断肠套叠的符合率明显高于未行超声检查者(P<0.05)。196例肠套叠患儿行空气灌肠,整复成功199例(99%),失败2例(1%)。16例肠套叠行手术治疗,其中10例伴肠坏死,术后无病例死亡。结论:儿童急性肠套叠多见于2岁以下小儿,以4-10个月龄最多见。早期应行超声检查可以明确诊断,及时行空气灌肠整复率高,预后良好。     

Differential diagnostic relevance of high resolution magnetic resonance in patients with possible multiple system atrophy (MSA) - A case report

Multiple system atrophy (MSA) is sporadic, progressive neurodegenerative disorder characterized clinically by autonomic dysfunction, Parkinsonism (MSA-P), and cerebellar ataxia (MSA-C) in any combination. Parkinsonism is present in the majority of patients (80%). Early in the course of the disease autonomic dysfunctions are present in approximately 40% of patients, while the domination of cerebellar symptoms is present in 20% of all patients. According to second consensus statement on diagnosis of MSA, to make the diagnosis of possible MSA, except Parkinsonism or a cerebellar syndrome, there must be one feature involving autonomic dysfunction plus one other additional that can include findings on history, clinical examination or changes in structural or functional imaging. We present a case of 60-year old male with Parkinsonism and cerebellar symptoms accompanied with signs of autonomic nervous system involvement. Level of autonomic dysfunction was not the level required for the diagnosis of probable MSA. On initially performed 1.5T MRI, the most prominent neurodegenerative feature of brain stem, cerebellum and basal ganglia was atrophy, however features like "hot-cross bun" sign, "slit-like" putaminal rim and middle cerebellar peduncle hyperintensities were detected only after MR imaging on higher resolution (3T) device. Our case points to the possibility that some typical structural changes that can help in diagnostic process may not be clearly visible on 1.5 T MRI devices. In such cases we suggest using 3T MRI device, if feasible, in order to demonstrate findings that may help in establishing the diagnosis of possible MSA.     

Hyperintense putaminal rim at 1.5 T: prevalence in normal subjects and distinguishing features from multiple system atrophy

ABSTRACT: BACKGROUND: Hyperintense putaminal rim (HPR) is an important magnetic resonance imaging (MRI) sign for multiple system atrophy (MSA). Recent studies have suggested that it can also be observed in normal subjects at 3 T. Whether it can be observed in normal subjects at 1.5 T is not known. This study aimed to determine whether HPR could be observed in normal subjects at 1.5 T; and if so, to establish its prevalence, the MRI characteristics, and the features which distinguish from HPR in MSA patients. METHODS: Axial T2-weighted images of 130 normal subjects were evaluated for the prevalence of HPR, its age and gender distribution, laterality, maximum dimension, association with hypointensity of nearby putamen, and presence of discontinuity. To distinguish from that observed in MSA, axial T2-weighted images of 6 MSA patients with predominant parkinsonism (MSA-P) and 15 MSA patients with predominant cerebellar symptoms (MSA-C) were also evaluated. The characteristics of HPR were compared between these patients and age-matched normal subjects. The mean diffusivity (MD) values of putamen were also compared. Fisher's exact test, t-test, and one way analysis of variance were used to determine significance at corrected p < 0.05. RESULTS: HPR was observed in 38.5% of normal subjects. Age and gender predilection and laterality were not observed. In most cases, it occupied the full length or anterior half of the lateral margin of putamen, and was continuous throughout its length. Maximum transverse dimension was 2 mm. There was no association with hypointensity of nearby putamen. However, in MSA-P, HPR was located predominantly at the posterolateral aspect of putamen, and associated with putaminal atrophy. Discontinuity of HPR was more frequently observed in MSA-P. On visual analysis, the characteristics of HPR were similar between MSA-C patients and normal subjects. Patients with MSA of either type had significantly higher MD values of putamen than normal subjects. CONCLUSIONS: HPR can be observed in 38.5% of normal subjects at 1.5 T. Thin linear hyperintensity without discontinuity, occupying the full length or anterior half of the lateral margin of the putamen, is suggestive of "normal." In doubtful cases, measurement of the MD values of nearby putamen may be valuable.     

The Impact of Autonomic Dysfunction on Survival in Patients with Dementia with Lewy Bodies and Parkinson's Disease with Dementia

Introduction

Autonomic dysfunction is a well-known feature in neurodegenerative dementias, especially common in α-synucleinopathies like dementia with Lewy bodies and Parkinson''s disease with dementia. The most common symptoms are orthostatic hypotension, incontinence and constipation, but its relevance in clinical practice is poorly understood. There are no earlier studies addressing the influence of autonomic dysfunction on clinical course and survival. The aim of this study was to investigate the frequency of the three most common features of autonomic dysfunction and analyze how it affects survival.

Methods

Thirty patients with dementia with Lewy bodies and Parkinson''s disease with dementia were included in this prospective, longitudinal follow-up study. Presence of incontinence and constipation was recorded at baseline. Blood pressure was measured at baseline, after 3 months and after 6 months according to standardized procedures, with 5 measurements during 10 minutes after rising. Orthostatic hypotension was defined using consensus definitions and persistent orthostatic hypotension was defined as 5 or more measurements with orthostatic hypotension. Difference in survival was analyzed 36 months after baseline.

Results

There was a high frequency of persistent orthostatic blood pressure (50%), constipation (30%) and incontinence (30%). Patients with persistent orthostatic hypotension had a significantly shorter survival compared to those with no or non-persistent orthostatic hypotension (Log rank x² = 4.47, p = 0.034). Patients with constipation and/or urinary incontinence, in addition to persistent orthostatic hypotension, had a poorer prognosis compared to those with isolated persistent orthostatic hypotension or no orthostatic hypotension (Log rank x² = 6.370, p = 0.041).

Discussion

According to our findings, the identification of autonomic dysfunction seems to be of great importance in clinical practice, not only to avoid falls and other complications, but also as a possible predictor of survival.     

Diagnostic Accuracy of Apparent Diffusion Coefficient and 123I-Metaiodobenzylguanidine for Differentiation of Multiple System Atrophy and Parkinson’s Disease

Background

It is often hard to differentiate Parkinson’s disease (PD) and parkinsonian variant of multiple system atrophy (MSA-P), especially in the early stages. Cardiac sympathetic denervation and putaminal rarefaction are specific findings for PD and MSA-P, respectively.

Purpose

We investigated diagnostic accuracy of putaminal apparent diffusion coefficient (ADC) test for MSA-P and ¹²³I-metaiodobenzylguanidine (MIBG) scintigram for PD, especially in early-stage patients.

Methods

The referral standard diagnosis of PD and MSA-P were the diagnostic criteria of the United Kingdom Parkinson’s Disease Society Brain Bank Criteria and the second consensus criteria, respectively. Based on the referral standard criteria, diagnostic accuracy [area under the receiver-operator characteristic curve (AUC), sensitivity and specificity] of the ADC and MIBG tests was estimated retrospectively. Diagnostic accuracy of these tests performed within 3 years of symptom onset was also investigated.

Results

ADC and MIBG tests were performed on 138 patients (20 MSA and 118 PD). AUC was 0.95 and 0.83 for the ADC and MIBG tests, respectively. Sensitivity and specificity were 85.0% and 89.0% for MSA-P diagnosis by ADC test and 67.0% and 80.0% for PD diagnosis by MIBG test. When these tests were restricted to patients with disease duration ≤3 years, the sensitivity and specificity were 75.0% and 91.4% for the ADC test (MSA-P diagnosis) and 47.7% and 92.3% for the MIBG test (PD diagnosis).

Conclusions

Both tests were useful in differentiating between PD and MSA-P, even in the early stages. In early-stage patients, elevated putaminal ADC was a diagnostic marker for MSA-P. Despite high specificity of the MIBG test, careful neurological history and examinations were required for PD diagnosis because of possible false-negative results.     

Brainstem in Multiple System Atrophy: Clinicopathological Correlations

1. Multiple system atrophy (MSA) is a sporadic neurodegenerative disorder that manifests with parkinsonism, cerebellar ataxia, and autonomic failure in various combinations.2. Orthostatic hypotension, neurogenic bladder, laryngeal stridor and sleep apnea, and rapid eye movement (REM) sleep behavior disorder are prominent manifestations of MSA.3. In MSA, there is severe depletion of catecholaminergic neurons of the C1 and A1 areas in the ventrolateral medulla, and this may contribute to orthostatic hypotension and endocrine disturbances in this disorder, respectively.4. Loss of corticotrophin-releasing factor (CRF) neurons in the pontine micturition area may contribute to neurogenic bladder dysfunction.5. Respiratory abnormalities may reflect loss of cholinergic neurons in the arcuate nucleus of the ventral medulla.6. Loss of cholinergic mesopontine neurons, in the setting of loss of locus ceruleus neurons and preservation of rostral raphe neurons, may contribute to REM sleep abnormalities in MSA.     

Clinical, morphological, biochemical, and neuroradiological features of mitochondrial encephalomyopathies. Presentation of 19 patients

Nineteen patients (9 females, 10 males) with mitochondrial encephalomyopathies (ME) were studied. The diagnosis was established according to clinical and histopathological criteria. Leading clinical features were chronic progressive external ophthalmoplegia (CPEO) and muscle weakness in 95% of the patients. Pigmentary retinopathy was seen in 63%, and was always associated with CPEO. Hypacusis was present in 47% and cerebellar ataxia in 63% of patients. Clinical or electrophysiological signs of involvement of the central nervous system (CNS) were found in 21% of the patients. In muscle biopsy ragged red fibers were the predominant histopathological findings (100% of the patients), while COX-negative fibers were seen in 74%, deletions of the mitochondrial DNA in 42%, and defects of the respiratory chain in 32% of the patients. Increased blood lactate levels were found in 79% of the patients. Needle electromyography revealed myopathic features in 74%, features of denervation in 16%, and w as normal in the remainder. Imaging studies showed cerebral atrophy in 58%, cerebellar atrophy in 16%, and hyperintense lesions of the white matter, pyramidal tract or extrapyramidal system in 16% of the cases. It is concluded that the clinical manifestations of ME can be very variable. Diagnosis of ME should be always considered in young patients presenting with CPEO and muscle weakness. In most cases, diagnosis can be made by a few selected investigations, while detection of genetic abnormalities may lead to the diagnosis in the remaining cases. (Mol Cell Biochem 174: 297–303, 1997)     

A Chinese patient of P102L Gerstmann-Sträussler-Scheinker disease contains three other disease-associated mutations in SYNE1

Gerstmann-Sträussler-Scheinker disease (GSS) with the P102L mutation in PRNP gene is characterized with progressive cerebellar dysfunction clinically and PrP^Sc plaques neurologically. Due to the cerebellar ataxia in the early stage, GSS P102L is often misdiagnosed as other neurodegenerative disorders. We presented here a 49-year-old female patient with proven P102L PRNP mutation, and three heterologous mutations in hereditary ataxias associated gene SYNE1, including p.V3643L, p.M3376V and p.T2860A. The patient appeared progressive unsteady gait in early stage and developed the Creutzfeldt-Jacob disease (CJD) – associated clinical manifestations, including progressive dementia, myoclonus, pyramidal and extrapyramidal signs. She is still alive but with akinetic mutism 21 months after onset. Observation of intense signal changes in cortical regions (cortical ribboning) in diffusion weighted imaging (DWI) MRI scanning and positive protein 14-3-3 in cerebrospinal fluid (CSF) proposed the diagnosis of sporadic CJD. The final diagnosis of P102L GSS was made after PRNP sequencing.     

Can prion disease suspicion be supported earlier?: Clinical,radiological and laboratory findings in a series of cases

The subacute spongiform encephalopathies are prion diseases characterized by acute and rapid neurodegeneration that lead to the death of the patient within months to a few years. The epidemiology of CJD is complicated and the frequency in Mexico is unknown. We aim to describe the cases of prion disease in Mexico. Consecutive patients who met the diagnostic criteria by the WHO were enrolled. We describe 26 patients with clinical manifestations, imaging and laboratory studies compatible with prion disease. The mean age at onset was 52 years old. The main clinical manifestations were cognitive alterations (69%) followed by extrapyramidal movements (50%), abnormal cerebellar function (46%), behavioral alterations (46%), myoclonus (46%) and mood depression (23%), among other features. Half of the patients progressed rapidly to a state of akinetic mutism (53%). Only 2 (7.6%) patients had a family history of a similar disease. Time interval between onset and diagnosis varied between 71 days to 24 months, with a median of 6 months. The classical bilateral basal ganglia hyperintensities were present in the very early stage of the disease. Protein 14-3-3 immuneassay in the CSF was positive in all measured cases. Bilateral basal ganglia hyperintensities was the most important early finding, while protein 14-3-3 was a late finding and the results were usually obtained after the patient was discharged. Around 1.5 cases of CJD cases per year are reported in our country. When suspected, MRI can support the diagnosis earlier than other studies.Key words: Creutzfeldt-Jacob disease, prions