艾滋病所致的进行性多灶性白质脑病(附1例报告)

目的　提高对艾滋病所致的进行性多灶性白质脑病的认识以及引起临床重视。方法　报告 1例证实的艾滋病所致进行性多灶性白质脑病患者的临床表现、实验室及影像学特点。结果　患者神经系统表现为高级神经活动障碍 ,双侧锥体束损害 ,左侧偏身感觉减退。血清抗HIV抗体阳性。脑脊液检查正常。MR双侧额叶、右侧颞叶深部白质内均见斑片状、指状信号影 ,T1W低信号 ,T2 W高信号 ,病灶无强化。结论　艾滋病可引致进行性多灶性白质脑病 ,临床易误诊漏诊 ,应及时行有关检查及时确诊     

3例局灶性皮质发育不良Ⅰ型诊治思考并文献复习

目的探讨局灶性皮质发育不良(FCD)Ⅰ型的临床临床特点及诊治过程,以期提高对该病的认识和重视,早期获得正确合理的治疗。方法回顾性分析3例FCDⅠ型致难治性癫痫的临床资料,并结合文献总结分析其临床特点。结果经临床、影像学、视频脑电及术后病理常规检查明确诊断为FCDⅠ型。该3例患者均表现为儿童期发病,临床表现为癫痫发作。1例患者术前MRI发现病灶,呈阳性表现;另外2例术前MRI未见明显异常,呈阴性表现。3例患者均行PET-CT检查,例1示右侧顶叶较对侧摄取FDG明显减低;例2表现为右侧额中回异常信号;例3表现为双侧额叶、左侧颞叶放射性摄取减低。术后常规病理检查均确诊为FCDⅠ型,术后恢复良好无功能损害。结论 FCDⅠ型临床常表现为难治性癫痫,多于儿童时期发病,可以发生于大脑的任意脑叶,头部MRI可呈阴性表现,手术治疗是主要的治疗方法。     

原发性中枢神经系统血管炎的临床特点

目的探讨原发性中枢神经系统血管炎(PACNS)的临床特点。方法对27例PACNS患者的临床资料进行分析。结果PACNS好发于中青年,呈急性或亚急性起病,临床表现以头痛、大脑皮质功能减退、局灶性神经功能缺损及癫疒间样发作为主;头颅MRI示病灶处呈长T1、长T2改变,多有强化;脑组织病理检查示软脑膜血管炎性改变。经糖皮质激素以及抗血小板聚集、清除自由基、降低颅内压、改善微循环等综合治疗,病情明显改善。结论PACNS临床表现多样,综合临床表现、影像学及脑组织活检可作出诊断;应用糖皮质激素治疗可显著提高疗效。     

甲状腺功能减退性肌病的临床特点

目的了解甲状腺减退性肌病的临床特征,提高临床诊疗工作中对甲状腺功能减退性肌病的认识,减少误诊误治。方法回顾性分析我院近10年收治的11例甲状腺功能减退性肌病患者的临床特征、实验室检查及辅助检查,并复习相关文献了解其可能的病理生理机制。结果甲状腺功能减退性肌病临床表现复杂,实验室检查常合并血常规、肌酶及血脂异常,肌电图改变无明显特异性,甲状腺激素替代治疗有效。结论在神经内科诊疗工作中,对以肌无力、肌肉疼痛等肌病症状为主诉的患者,应完善TSH检查,减少甲状腺功能减退性肌病的误诊误治。     

药物致急性脱髓鞘脑病3例临床分析

目的探讨药物致急性脱髓鞘脑病的各项临床特征及其可能相关原因.方法报道3例病前1-3 d服用不明成份药物,且通过影像学检查临床诊断为急性脱髓鞘脑病的病例,综合相关研究文献,分析其临床表现、辅助检查、治疗及预后等情况.结果药物致急性脱髓鞘脑病患者轻者可出现多项精神状态检查异常,重者在短时间内出现意识障碍,缺乏明确的中枢神经系统定位体征;脑电图及地形图表现为弥漫性低功率慢波;头颅核磁共振成像MRI表现为大脑白质区域广泛对称的长或略长T1信号、长T2信号,相应的弥散加权成像显示高信号;激素治疗后部分患者好转,部分患者预后较差,长期随访无复发.结论药物致急性脱髓鞘脑病呈单向病程,突出表现为高级中枢功能障碍,头颅MRI检查对于明确诊断及预后判断较为重要,脑电图及地形图检查在一定程度上反映出弥漫性脑功能的减退,预后可能与个体差异、病变范围及程度、并发症等因素有关.     

原发性甲状腺功能减退致垂体增生的诊断与治疗

目的探讨原发性甲状腺功能减退致垂体增生的诊断和治疗原则。方法回顾性分析3例原发性甲状腺功能减退致垂体增生患者的临床资料。对3例原发性甲状腺功能减退患者行垂体及靶腺功能和影像学检查,并在左旋甲状腺素替代治疗l～3个月后行内分泌功能及MRI复查。结果3例均为原发性甲状腺功能减退症,MRI示垂体明显增大,信号强化均匀。左旋甲状腺素替代治疗3个月后甲状腺功能减退症状消失;MRI示垂体大小恢复正常2例,明显缩小1例;血浆甲状腺素、促甲状腺素和泌乳素水平恢复正常。结论原发性甲状腺功能减退病人可以伴有垂体增生;努力提高对其垂体增生MRI表现的认识,及时诊断,并首选甲状腺素替代治疗效果好。     

26例多发性硬化患者的临床与鉴别诊断

目的 分析26例临床确诊的多发性硬化(multiple sclerosis，MS)患者的临床资料。方法 回顾性总结临床确诊MS患者的临床表现、实验室检查以及影像学表现。结果 26例MS患者最常见的临床症状为肢体无力和感觉异常，其次为肌肉痉挛性疼痛、视力障碍、尿便异常、共济失调，个别患者可有周围神经改变。实验室检查示：脑脊液蛋白水平和IgG量增高最常见。磁共振(MRI)异常率高达90．9％。结论 MS是一种临床表现复杂、累及中枢神经系统白质多部位、病程表现多时相的自身免疫性疾病。但临床有周围神经症状及MRI发现皮层病灶也并非是排除MS的绝对标准。在诊断MS时，尤其对于单病灶或多病灶、单时相病程患者应从临床和影像学方面注意与脑梗死、脊髓疾病相鉴别。     

青春前期儿童甲状腺功能减退致垂体增生及文献复习

目的探讨青春前期儿童甲状腺功能减退症的诊断及治疗原则。方法回顾一例青春前期儿童甲状腺功能减退致垂体增生的临床资料。结果患者表现为促甲状腺素(TSH)、泌乳素(PRL)升高,FT3和FT4减少,MRI示垂体增大,甲状腺素替代治疗6个月后,垂体基本恢复正常大小,TSH、PRL、T3、T4基本恢复正常。结论青春前期儿童甲状腺功能减退症通过临床表现、影像学的特征表现以及实验室检查可以明确诊断。甲状腺素的替代治疗为首选而不宜手术治疗。     

表现为癫痫发作和认知功能障碍的胰岛细胞瘤一例及文献分析

目的 总结胰岛细胞瘤所致癫痫发作及认知功能障碍的临床特点、影像学表现、脑电图及病理特征.方法 分析1例表现为癫痫发作及认知功能障碍的胰岛细胞瘤患者的临床资料,并复习相关文献报道.结果 患者49岁,女性,主要表现为多种类型的癫痫发作及认知功能障碍.发作时测血糖均＜1.7 mmol/L;头MRI检查示胼胝体压部病灶.脑电图检查示左颞枕区中波幅尖波,双侧各程可见长短程高波幅慢波.胸部增强CT检查示胰腺头颈部交界区富血供肿瘤.行肿瘤切除术后病理学诊断为胰岛细胞瘤.术后患者未再出现低血糖及抽搐发作,遗留记忆力减退.结论 临床应高度警惕伴有低血糖的顽固性不典型的癫痫患者是否有胰岛细胞瘤的可能,以尽早诊断及治疗,改善预后.     

缺血性脑损伤与额叶相关神经认知功能障碍

脑缺血是一种常见的病理状态,伴发于多种脑血管病的病理过程中。许多临床和实验室证据都表明,脑缺血能引起认知功能障碍,而额叶在人脑认知功能方面占据着重要位置。额叶相关神经认知功能的障碍主要表现在知觉、注意、言语、记忆以及思维等高级皮层机能方面。本文就缺血性脑损伤与额叶相关神经认知功能障碍的表现、基础及临床研究做一综述,期望为临床与相关基础研究提供可能的参考。     

Clinical epidemiology and survival of progressive multifocal leukoencephalopathy in the era of highly active antiretroviral therapy: Data from the Italian Registry Investigative Neuro AIDS (IRINA)

Human immunodeficiency virus (HIV)-associated progressive multifocal leukoencephalopathy (PML) remains a relevant clinical problem even in the era of highly active antiretroviral therapy (HAART). Aims of the study were to analyze clinical and treatment-related features and the survival probability of PML patients observed within the Italian Registry Investigative Neuro AIDS (IRINA) during a 29-month period of HAART. Intravenous drug use, the presence of focal signs, and the involvement of white matter at neuroradiology increased the risk of having PML. A reduced probability of PML was observed when meningeal signs were reported. Patients starting HAART at PML diagnosis and previously naïve for antiretrovirals showed significantly higher 1-year probability of survival (.58), compared to those continuing HAART (.24), or never receiving HAART (.00). Higher CD4 cell count were associated with a higher survival probability (.45). At multivariate analysis, a younger age, higher CD4, starting HAART at PML diagnosis, the absence of previous acquired immunodeficiency syndrome (AIDS)-defining events, and the absence of a severe neurologic impairment were all associated with a reduced hazard of death. The use of cidofovir showed a trend towards a reduced risk of death.     

Clinical and Magnetic Resonance Imaging Regression of Progressive Multifocal Leukoencephalopathy in an AIDS Patient After Intensive Antiretroviral Therapy

A 36-year-old homosexual man with 6 months of visual symptoms and headaches had right homonymous hemianopia, mild new learning impairment, and alexia with agraphia. The initial brain magnetic resonance imaging (MRI) scan was reported consistent with left occipital infarction. Subsequent MRI demonstrated abnormal demyelination in subcortical white matter and deep parieto-occipital white matter bilaterally, but primarily left. Human immunodeficiency virus testing and cerebrospinal fluid polymerase chain reaction for JC virus DNA were both positive, consistent with progressive multifocal leukoencephalopathy (PML) with AIDS. His clinical status steadily deteriorated, and MRI white matter abnormalities worsened despite high-dose antiretroviral therapy. After the antiretroviral regimen was intensified by the addition of a protease inhibitor, rapid clinical and radiographic improvement occurred with subsequent MRI studies revealing only residual left parieto-occipital encephalomalacia. PML in AIDS patients has been associated with a nearly uniformly poor prognosis until recent reports of improved outcomes after highly active antiretroviral therapy. This patient with PML and AIDS similarly showed a robust clinical and MRI response to intensive antiretroviral combination therapy, which has been maintained for more than 3 years.     

Prolonged survival and partial recovery in AIDS-associated progressive multifocal leukoencephalopathy

Two human immunodeficiency virus seropositive patients with progressive multifocal leukoencephalopathy (PML) exhibited a dramatic though incomplete recovery of neurologic function and have survived for more than 30 months since the onset of symptoms. PML was the initial manifestation of the acquired immune deficiency syndrome (AIDS) in both patients, though other opportunistic infections have subsequently supervened in one. Brain tissue from both patients obtained by stereotactic biopsy showed the typical features of PML, but was also characterized by an unusually prominent inflammatory response. Neurologic improvement did not appear to correlate with clinical or laboratory measurements of immunologic improvement. One patient continued to display neurologic recovery despite the development of other opportunistic infections. Though atypical, PML in AIDS may be associated with prolonged survival.     

Clinical epidemiology and survival of progressive multifocal leukoencephalopathy in the era of highly active antiretroviral therapy: data from the Italian Registry Investigative Neuro AIDS (IRINA)

Human immunodeficiency virus (HIV)-associated progressive multifocal leukoencephalopathy (PML) remains a relevant clinical problem even in the era of highly active antiretroviral therapy (HAART). Aims of the study were to analyze clinical and treatment-related features and the survival probability of PML patients observed within the Italian Registry Investigative Neuro AIDS (IRINA) during a 29-month period of HAART. Intravenous drug use, the presence of focal signs, and the involvement of white matter at neuroradiology increased the risk of having PML. A reduced probability of PML was observed when meningeal signs were reported. Patients starting HAART at PML diagnosis and previously na?ve for antiretrovirals showed significantly higher 1-year probability of survival (.58), compared to those continuing HAART (.24), or never receiving HAART (.00). Higher CD4 cell count were associated with a higher survival probability (.45). At multivariate analysis, a younger age, higher CD4, starting HAART at PML diagnosis, the absence of previous acquired immunodeficiency syndrome (AIDS)-defining events, and the absence of a severe neurologic impairment were all associated with a reduced hazard of death. The use of cidofovir showed a trend towards a reduced risk of death.     

Epidemiology of progressive multifocal leukoencephalopathy in the United States: analysis of national mortality and AIDS surveillance data

We analyzed progressive multifocal leukoencephalopathy (PML) mortality data from 1979 to 1987 and data on persons with acquired immunodeficiency syndrome (AIDS) reported to the Centers for Disease Control (CDC). Based on analyses of multiple-cause-of-death vital statistics, deaths related to PML have increased fourfold from 1.5/10,000,000 persons in 1979 to 6.1/10,000,000 persons in 1987. The increase in the PML annual death rate began in 1984, occurred primarily in men 20 to 49 years of age, and was greatest in states known to have a high incidence of AIDS. In 1987, 56% of death certificates that listed PML as a cause of death also listed human immunodeficiency virus (HIV) infection. Analysis of AIDS case reports to the CDC from 1981 through June 1990 demonstrated that 0.72% of persons with AIDS were reported as having PML. Although most persons with AIDS who had PML were 20 to 49 years of age (84.6%), PML was reported more frequently among persons with AIDS greater than or equal to 50 years old than less than 50 years old. In addition, PML was reported more frequently among persons with AIDS who were exposed to HIV by blood transfusion than those in all other exposure categories. These data demonstrate that the increase in PML mortality from 1979 to 1987 was associated with the large increase in immunosuppressed persons with AIDS.     

Update on Progressive Multifocal Leukoencephalopathy

Progressive multifocal leukoencephalopathy (PML) is a severe, often fatal, opportunistic viral infection of the central nervous system that is mainly seen in the context of AIDS and certain monoclonal immune-suppressive therapies. The causative agent, a polyoma virus, named JC virus infects only humans and there is no animal model for PML. This update focuses on information gathered in recent years on the pathogenesis of the disorder, on several clinical aspects associated with diagnosis and therapy, and on the immune reconstitution inflammatory syndrome (IRIS), a complication associated with removal of immunosuppressive therapy in PML.     

Progressive multifocal leukoencephalopathy: clinical and radiographic features

Between April 1982 and March 1984 7 pathologically confirmed cases of progressive multifocal leukoencephalopathy (PML) were diagnosed at our institution. Only 1 case had been seen in the preceding twenty years. Four patients had acquired immunodeficiency syndrome (AIDS). The others had chronic lymphocytic leukemia, Hodgkin's lymphoma, and systemic lupus erythematosus. All patients presented with progressive neurological deficits. In most, the initial computed tomographic (CT) scan was disproportionately less abnormal than the clinical findings. In 5 patients the first CT scan revealed hypodensities of the cerebral white matter which lacked mass effect and did not enhance with contrast agent. The lesions were observed to enlarge progressively on CT scans but often lagged behind the rate of clinical evolution. Although 3 patients were treated with cytosine arabinoside, none improved. PML had similar clinical, radiographic, and pathological features in the AIDS and non-AIDs patients. Of 79 AIDS patients cared for at our institution between December 1979 and December 1983, 3.8% had PML. PML should be suspected in AIDS patients in the presence of the characteristic CT features, especially when CT-clinical dissociation occurs.     

Progressive multifocal leukoencephalopathy in a patient with acquired immune deficiency syndrome

Progressive multifocal leukoencephalopathy (PML) occurred in a heterosexual Haitian man with acquired immune deficiency syndrome (AIDS). The patient initially had focal neurologic signs and nonenhancing lesions on a computed tomographic scan. Although PML is rare, it should be included in the differential diagnosis of opportunistic infections associated with AIDS. Brain biopsy is suggested in patients suspected of having PML who might benefit from antiviral therapy.     

Evolution of purely infratentorial PML under HAART--negative outcome under rapid immune reconstitution

Progressive multifocal leukoencephalopathy (PML) caused by the polyomavirus JC is a well-recognised complication of AIDS. Purely infratentorial manifestations are rare. Introduction of highly active antiretroviral therapy (HAART) has been associated with a reduction in morbidity and an improvement in overall survival among HIV-infected individuals. Recently, several reports have described adverse events in patients with PML who begin HAART and show evidence for immune reconstitution. We describe the clinical course of two patients with PML with purely infratentorial manifestation, whose clinical course deteriorated despite the successful introduction of HAART. Possible underlying immunological mechanisms are discussed.     

Predictive factors for prolonged survival in acquired immunodeficiency syndrome—associated progressive multifocal leukoencephalopathy

Progressive multifocal leukoencephalopathy (PML) complicating the acquired immunodeficiency syndrome (AIDS) is typically inexorably progressive with death usually occurring within 6 months of symptom onset. Occasional patients have been observed to survive longer than 1 year, often with remission of clinical features. In this study, we identify predictive factors for prolonged survival in patients with biopsy proven, AIDS-associated PML, by comparing 7 patients with survival exceeding 12 months from symptom onset with 45 patients with shorter survivals. PML was the presenting manifestation of AIDS in 5 (71.4%) of 7 long-term survivors compared with 8 (17.8%) of 45 short-term survivors. CD4 T-lymphocyte counts were substantially higher in the long-term survivors, with 3 (42.9%) of 7 having counts exceeding 300 cells/mm³ in comparison with only 1 (4.3%) of 23 short-term survivors. Contrast enhancement on radiographic imaging was observed in 3 (50%) of 6 long-term survivors in comparison with 4 (8.9%) of 45 short-term survivors. Neurological recovery and radiographic improvement were not observed in any short-term survivors but were seen in 5 (71.4%) long-term survivors. There was no association between treatment modalities and survival. Predictors of long-term survival in AIDS patients with PML include PML as the heralding manifestation of AIDS, high CD4 T-lymphocyte count at disease onset, lesion enhacement on computed tomographic scan or magnetic resonance imaging, and evidence of recovery of neurological function.