Lhermitte-Duclos disease

Summary Immunocytochemical studies were carried out on two previously reported autopsy cases of Lhermitte-Duclos disease. The unaffected cerebellar cortex adjacent to the lesions served as control. The findings supported the view, previously expressed by one of the authors, of a heterogeneous neuronal structure of the lesion, consisting of at least two cell types. No further light was thrown on the predominant medium-sized cells, believed to represent hypertrophic internal granular neurons. On the other hand the large cells shared a number of features with Purkinje cells. In particular they were recognized by the pan-T-cell antibody anti-Leu-4, were surrounded by axosomatic synapses visualized by the antisynaptic vesicle glycoprotein antibody SV2, and contained both nonphosphorylated and phosphorylated neurofilament epitopes. It is suggested that these cells represent dysplastic Purkinje cells. The lesion therefore appears to be a complex hamartoma rather than a simple hypertrophy of the internal granular neurons.Supported by a Veterans Administration Career Development Award (R.A.S.)     

Immunohistochemistry and proliferative activity in Lhermitte-Duclos disease

Summary We have evaluated a recurrence of Lhermitte-Duclos disease by immunohistochemistry for Purkinje cell markers and proliferative activity (proliferating cell nuclear antigen), by electron microscopy and for DNA ploidy (image analysis). While most of the abnormal neurons in the lesion appear to be derived from granule cells, several Purkinje cell specific polyclonal and monoclonal antibodies, including L7, PEP 19 and calbindin, labeled a minor subpopulation. Staining with monoclonal antibodies to proliferating cell nuclear antigen and measuring cell DNA index and ploidy with a cell image analyzer revealed no proliferative activity. Electron microscopy findings were similar to those previously reported. In spite of its recurrence, our findings support the notion that Lhermitte-Duclos disease is malformative, not neoplastic, and that the characteristic neurons are derived predominantly but not exclusively from a non-Purkinje cell source, probably the granule cell.     

Dysplastic gangliocytoma of the cerebellum—An ultrastructural study

Summary A case of dysplastic gangliocytoma of the cerebellum, a rare disorder with unknown etiology and pathogenesis, was studied ultrastructurally. The intranuclear inclusions identified were not seen to be of viral origin. The ultrastructural characteristics of the abnormal cells support the prevailing theory that these cells represent hypertrophied granular neurons.     

Lhermitte–Duclos disease

Background Lhermitte–Duclos disease (LDD; dysplastic gangliocytoma of the cerebellum) is a rare hamartoma of the cerebellum. It was first described by Lhermitte and Duclos in 1920 as “Sur un ganglioneurome diffus du cortex du cervelet” (Lhermitte and Duclos [Bull Assoc Fr Etude Cancer 9:99–107, 1920]). Since then, due to its rarity and the variability of its presentation, the diagnosis is often missed. It is not only important for the neurosurgeon and the pathologist to be aware of this entity so as to differentiate from malignant lesions but also to distinguish it from other cerebellar malformations, which may be hypoplastic or dysplastic, focal or diffuse in nature, with brain stem and cerebral involvement, and varied natural course. Illustrative case We report a case of LDD in a 16-year-old boy. This case exemplifies the rarity of the disease leading to lack of awareness with which the diagnosis was easily missed. We also take this opportunity to discuss the clinical presentation, neuroradiological appearance, and a brief summary of histopathological findings, pathogenetic considerations, and neurogenetical aspects.     

阿尔茨海默病脑磁共振研究

目的 了解Ａｌｚｈｅｉｍｅｒ病（ＡＤ）脑结构性变化的特点及与健康老人增龄性改变的差异。方法 对２２例ＡＤ和２９例健康老人分别按年龄为６０～６５岁、６６～７０岁和７０岁以上三组,ＡＤ为ａｄ１、ａｄ２和ａｄ３组,健康老人为ｎｏｒ１、ｎｏｒ２和ｎｏｒ３组。全部对象作ＭＲＩ检查。结果 ｎｏｒ３的灰质体积、总脑脊液体积及右侧海马体积与ｎｏｒ１和ｎｏｒ２相比有显著差异;与健康老人相比,ＡＤ的灰质体积,双侧海马体积显著降低,而总脑脊液、脑室外脑脊液、侧脑室、三脑室和四脑室体积显著升高。结论 与健康老人增龄性变化相比,ＡＤ脑结构性改变的涉及范围广,变化幅度大。     

烟雾病的诊断与鉴别诊断

目的 评价烟雾病的诊断方法，讨论其鉴别诊断。方法 回顾性分析11例烟雾病的CT、MRI及MRA资料，分析脑实质及脑血管的形态学改变。结果 CT及MRI表现为脑实质改变。脑出血3例，脑梗化6例，脑萎缩2例；MRA均见有不同程度的颈内动脉分叉以上狭窄或闭塞，其中双侧颈内动脉狭窄6例，单侧颈内动脉狭窄5例；大脑中动脉狭窄20支，大脑前动脉狭窄18支，大脑后动脉狭窄14支；9例同时显示异常血管网。结论 烟雾病主要靠放射学诊断，MRA可很好地显示烟雾病异常血管，可作为筛台烟雾病首选方法。诊断时，要排除脑中风、动脉瘤和动静脉畸形出血。     

貌似肿瘤的中枢神经系统脱髓鞘病

目的总结貌似肿瘤的中枢神经系统炎性脱髓鞘病病例,分析其临床、影像学及病理特点,归纳临床误诊原因并探讨诊断及鉴别诊断要点.方法分析经术后病理证实的14例临床资料,包括病史、发病情况、临床症状、体征、手术中肉眼所见,影像学包括CT/MRI表现,病理包括HE染色,Luxolfastblue(Lfb)髓鞘染色,Bodian神经纤维染色,还进行了CD68,胶质纤维酸性蛋白(GFAP)及神经丝蛋白(NF)等免疫组化染色.结果中枢神经系统脱髓鞘病临床上可出现头痛、癫等症状,急性期CT/MRI可以出现水肿等占位效应、增强后可以有环形强化,冰冻切片可以观察到胶质细胞增生等.结论中枢神经系统脱髓鞘病可以有肿瘤样的非典型性表现,临床容易造成误诊.应在临床、影像学及病理学等多方面进行鉴别诊断.     

Marchiafava-Bignami病的临床及影像学研究

目的 探讨Marchiafava-Bignami病(MBD)的临床及影像学改变.方法 回顾性分析了7例MBD患者的临床和CT、MRI资料,包括病灶形态、分布、信号或密度改变等影像学特征:4例同时行CT和MRI检查,2例仅行CT检查,1例仅行MRJ检查.结果 本组患者急性型5例,均表现为胼胝体肿胀及长T1、长T2信号改变,均有双侧脑室周围白质、额叶皮层下白质对称性累及:慢性型2例,胼胝体明显萎缩变薄,并呈长T1、长T2信号及FLAIR像点片状或线样低信号灶.5例患者DWI显示病灶区信号明显增高并有2例出现弥散受限改变.结论 MBD具有特征性MRJ表现,其影像学改变可能反映其临床及预后.     

弥散成像和血流灌注成像磁共振诊断急性缺血性脑血管病的意义

目的评价弥散成像（DWI）、血流灌注成像（PWI）磁共振对急性缺血性脑血管病的诊断价值。方法用DWI、PWI诊断急性脑缺血,并与常规MRI结果比较。结果经MRI检查证实的急性缺血性脑血管病患者共22例。其中发病后90分钟至6小时检查者11例,其CT及常规MRI未见异常,3例短暂性脑缺血发作（TIA）患者的DWI、PWI正常;其余8例脑梗死患者经DWI、PWI检查,均发现相对应的病灶,且6例灌注减低体积（PWIv）＞弥散异常体积（DWIv）,2例PWIv＝DWIv。起病在6－12小时5例,4例行PWI检查,3例PWIv＞DWIv,1例PWIv＝DWIv。起病在12－48小时6例,2例行PWI检查,PWIv＝DWIv。8例陈旧病灶在DWI上表现为低信号,所有新病灶在DWI上均为高信号。结论DWI、PWI可超早期诊断脑梗死,并可帮助了解缺血半暗带。T2加权像和DWI结合可以鉴别新旧梗死灶。     

Magnetic resonance angiography in moyamoya disease

Spontaneous occlusion of the circle of Willis, i.e., moyamoya disease (MMD), is a clinical disease entity angiographically characterized by progressive and bilateral stenosis of the carotid bifurcation, with a hazy collateral network at the base or convexity of the brain. Although the importance of computed tomography (CT) and conventional magnetic resonance (MR) imaging in diagnosing MMD has already been determined, conventional arteriography is still regarded as necessary for definitive diagnosis. Magnetic resonance angiography (MR-A) is a very recent vascular imaging technique which allows noninvasive and direct imaging of vessels without the use of contrast medium. We present four pediatric cases of MMD, evaluated by conventional angiography, CT, MR imaging, and MR-A. Our data demonstrate thatMR-A is successful both in allowing detection of occlusive disease of the basal portion of the internal carotid artery and large branch basal cerebral vessels and demonstrating the collateral vessels at the base of the brain. As a noninvasive procedure, MR-A promises to become a valuable alternative to classical angiography in the diagnosis of MMD.     

A golgi and electron microscopic study of a dysplastic gangliocytoma of the cerebellum

Summary The fine structure of a dysplastic gangliocytoma of the cerebellum is studied by means of the Golgi method and electron microscopic examination.Thick proximally unbranched dendrites with terminal arborizations and varicose influorescences in the form of a basket are stained with the Golgi method. Axons are always descendant to the inner myelinated layer of the redistributed cerebellar cortex, while ascendant collaterals are observed at the level of the outer myelinated layer.Clear and dense-core vesicles and synapses are common in the cellular profiles under electron microscopic examination. From these data and because of the lack of putative connections through the white matter, an organized, self-regulated, catecholamine-mediated complex may be postulated.     

平山病的临床、神经电生理及影像学特点

目的分析平山病的临床特征、神经电生理及影像学特点,以提高对平山病的诊断水平。方法分析15例平山病的患者临床、神经电生理、影像学资料。结果 1 15例均为青春期男性,均表现为上肢远端肌肉萎缩及无力,尺侧肌肉萎缩较重。单侧者12例,双侧者3例。8例手指伸展时出现震颤,6例伴寒冷麻痹;2肌电图均提示受累侧及对侧上肢远端肌肉神经源性受损,尺神经和正中神经分别有12例和3例复合肌肉动作电位(CMAP)波幅下降的现象;3颈髓MRI均可见颈髓下段轻度萎缩,3例髓内异常信号。过屈位颈MRI显示下段颈髓前移、变平,硬脊膜向前移位,硬脊膜外间隙内半月形信号影,11例在增宽的硬膜外腔见流空血管信号,6例增强扫描见硬脊膜外腔强化的静脉丛。结论在临床上遇到年青患者出现非对称性、局限于上肢远端肌群无力和萎缩时,应考虑平山病的诊断;神经电生理和颈髓MRI自然位+过屈位动态检查是诊断平山病的重要手段。     

儿童神经系统遗传代谢病临床及影像学特点

目的 总结儿童神经系统遗传代谢病的临床表现及影像学特点,加强临床医生对于该病的认识. 方法 应用气相色谱-质谱联用仪(GC/MS)技术对中国医科大学盛京医院儿科自2011年1月至8月收治的100例可疑患儿进行遗传代谢病筛查,并对其临床症状及影像学特点进行回顾性归纳总结. 结果 7例患儿筛查出阳性结果,其中戊二酸血症Ⅰ型3例,甲基丙二酸血症2例,尿素循环障碍1例,肉碱棕榈酰转移酶Ⅰ缺乏症1例.患儿遗传代谢病的临床表现不典型,可表现为惊厥、智力低下、精神运动障碍、酸中毒、频繁呕吐、行为异常等.影像学特点根据疾病类型不同表现各异. 结论 以多发性神经病为主要症状的患儿经影像学及脑脊液等检查除外小儿神经系统常见疾病后,应进一步考虑遗传代谢病的可能性.早期诊断及治疗对于改善患儿预后有重要意义.     

散发性与VHL相关性颅内血管母细胞瘤的MRI与病理相关性研究

目的 探讨散发性与Von Hippel-Lindau(VHL)病相关性颅内血管母细胞瘤的MRI表现类型及其病理基础.方法 2002年至2009年经手术病理证实的颅内血管母细胞瘤患者29例,将肿瘤MRI影像表现特点与手术病理结果做对照分析.结果 29例颅内血管母细胞瘤患者,散发性17例(59%),VHL病12例(41%),共计66个血管母细胞瘤,MRI表现为实性小结节型(28个)、实性肿块型(18个)及囊结节型(20个),病理光镜下表现为网状型、细胞型及混合型.结论 血管母细胞瘤的MRI表现类型与其病理基础密切相关.对VHL病患者颅内无症状的实性小结节型血管母细胞瘤应长期追踪观察.     

Gliomatosis cerebri in children

Objective Gliomatosis cerebri (GC) is an uncommon entity characterised by the diffuse overgrowth of large parts of the brain by glial cells. Reports in the literature often refer to adult patients, its occurrence in children being even more rare.Case report We report the case of an 8-year-old boy with GC and discuss the problem of intra vitam diagnosis.Conclusions Diagnosis of GC is very difficult; thus, cases diagnosed during life are rare.     

Cerebellar ataxia with recovery related to central pontine myelinolysis

Summary Development of severe ataxia and mild pyramidal signs without mental deterioration, tetraparesis or pseudobulbar palsy during recovery from withdrawal delirium and initial hyponatraemia are unusual clinical features consistent with central pontine myelinolysis. This diagnosis was confirmed by magnetic resonance imaging (MRI) in an alcoholic man. Clinical and electrodiagnostic improvement occurred, whereas the MRI findings remained unchanged in a follow-up study.     

帕金森病多模态磁共振成像和基于图论的复杂网络分析法研究进展

帕金森病是临床常见的进行性神经变性病,主要由黑质致密部多巴胺能神经元变性缺失所致,目前已成为继肿瘤、心脑血管病后中老年人群的“第三杀手”.近年来多模态MRI(包括结构性和功能性MRI、扩散张量成像等)的发展和基于图论的复杂网络分析法的引入,为研究帕金森病患者脑结构和功能连接提供新的有效方法.本文对近年来基于多模态MRI和基于图论的复杂网络分析法所构建的结构性和功能性脑网络在帕金森病中的研究进展进行简要概述,以为该病的早期诊断提供新的影像学标记.