急性感觉性神经元神经病两例的临床病理观察

目的明确感觉性神经元神经病（SND）的临床表现、神经电生理、颈椎核磁共振的影像学特点以及皮肤神经活检、腓肠神经活检和脊髓后索病变的病理学特征。方法分析2例胃肠道感染后死于SND的患者的临床与辅助检查资料，后者包括神经电生理检查、周围神经和脊髓的尸检病理，结合相关文献进行复习。结果患者独特的临床表现为早期出现共济失调，广泛分布的感觉减退和腱反射减低。电生理检查见感觉神经动作电位广泛异常，与神经纤维长度无关。SND患者脊髓后索髓鞘脱失，腓肠神经活检可见以大有髓纤维为主的神经纤维丢失，无再生神经丛。本组2例患者颈椎磁共振检查结果正常。结论SND独特的临床表现与神经电生理检查特点提示周围感觉神经纤维广泛受累。脊髓后索尸检病理证实感觉神经中枢传导纤维变性脱失，支持病变位于脊髓后根神经节。SND早期颈椎磁共振可能正常。     

神经活检在周围神经疾病诊断中的意义及与电生理检查相关性分析

目的探讨神经活检在周围神经疾病诊断中的意义,以及神经活检与电生理检查的相关性。方法 12例周围神经病患者均予腓肠神经活检、神经电生理检查,比较二者对轴索、髓鞘损害的诊断情况,统计电生理检查与神经活检诊断的符合率。结果 (1)电生理检查结果检出轴索损害/髓鞘损害9例,神经活检结果发现11例患者伴有髓鞘或轴索损害。(2)神经活检对于周围神经疾病诊断有决定性意义有3例,其余9例也均起到了证实临床诊断的作用。(3)光镜诊断、电镜诊断与电生理检查结果比较无明显差异(P>0.05)。结论神经活检技术对于发现间质改变及亚临床、亚电生理神经损害有明显优势,对于判断周围神经疾病患者的损害类型仍需联合电生理检查进行综合诊断。     

神经活检在周围神经疾病诊断中的意义及与电生理检查相关性分析

目的探讨神经活检在周围神经病诊断中的意义,并分析病理检查与神经电生理检查结果的一致性。方法收集2009-2011年作者医院行腓肠神经活检的16例周围神经病患者的临床诊断、电生理诊断和病理诊断资料;分析电生理诊断、光镜诊断和电镜诊断在判断轴索损害或/合并髓鞘损害的一致性,并分析其结果不一致的可能原因。结果电生理检查结果示异常12例(12/16),其中表现为轴索损害为主5例(5/16),髓鞘损害为主7例(7/16);病理检查结果示15例(15/16)患者有不同程度的髓鞘或轴索损害;4例(4/16)患者经神经活检后原有的诊断得到了补充或修改;进一步分析神经病理对于周围神经损害的诊断与电生理诊断无统计学差异。结论 (1)神经活检能够发现一些间质改变和亚临床、亚电生理的神经损害,从而对疾病的认识和治疗提供帮助。(2)神经病理对于周围神经损害的诊断与电生理诊断相关性较好,但当电生理表现为轴索损害时其一致的趋势欠佳,可能与轴索损害的多样性有关。     

显性遗传性运动感觉性神经病Ⅱ型一个家系分析

目的本文报道一个在老年期发病的遗传性运动感觉性周围神经病Ⅱ型家族。方法对家族成员进行临床和电生理检查,其中１例病人进行腓肠神经活检。结果家族成员在老年期出现四肢无力和感觉减退。老年病人和无症状年轻病人的电生理检查均发现周围神经的诱发电位波幅显著下降。腓肠神经活检证实轴索性周围神经病。结论检查结果符合显性遗传性运动感觉性周围神经病Ⅱ型的诊断,电生理检查可以发现家族中的亚临床病人。     

11例慢性格林-巴利综合征临床和神经病理研究

目的 探讨慢性格林-巴利综合征（CIDP）临床和神经病理特点。方法 对11例CIDP患者进行临床和腓肠神经活检分析。结果 11例CIDP例患者大多无明显前驱症状，临床表现为对称性肢体运动和感觉障碍，少数可伴颅神经损害；11例患者腰穿脑脊液检查均可见不同程度的蛋白细胞分离，全部患者肌电图均提示有脱髓鞘损害，11例腓肠神经活检显示以脱髓鞘为主要表现，其中5例伴有轻度轴索变性；全部患者均有不同程度的雪旺氏细胞增生，其中4例合并有洋葱头样神经改变。结论 慢性格林-巴利综合征病情迁延、表现复杂，激素冲击治疗有效，电生理和病理检查均提示CIDP以神经脱髓鞘改变为主，为临床表现不典型CIDP患者行腓肠神经活检有较大的诊断价值。     

慢性酒精性周围神经病的电生理改变

目的探讨慢性酒精性周围神经病的电生理特点和诊断价值.方法检测36例慢性酒精中毒患者与35例正常人肌电图对照,统计分析.结果观察组中确诊为临床或亚临床周围神经病的共30例(83.3 3%).观察组的正中神经、尺神经、胫后神经、腓总神经、腓肠、腓浅神经传导速度(NCV)及波幅明显低于正常对照组,感觉神经异常率高于运动神经,下肢异常率高于上肢.各神经传导速度与酒精摄入总量(TLDE)呈负相关.结论酒精对周围神经的毒性呈剂量依赖性.神经电生理检查能敏感地评价慢性酒精中毒患者的周围神经受损程度.     

皮肤神经活体组织检查在周围神经病诊断中的应用

目的 探讨皮肤神经活体组织检查在周围神经病诊断中的作用,建立正常参考值范围,并比较临床表现、神经电生理检查与表皮神经纤维病变的一致性.方法 对51例有周围神经病症状和(或)体征的患者进行皮肤神经活体组织检查,计算表皮神经纤维密度(IENFD);同时收集10名健康志愿者作为对照.51例患者中,41例行常规肌电图及神经传导速度(NCV)检查.21例行皮肤交感反射(SSR),比较IENFD与NCV及SSR的一致性.结果 对照组与病例组相比,大腿IENFD(根/mm)分别为21.4±2.7及15.0±6.3(t=2.976,P=0.004);小腿IENFD分别为15.4±2.2及8.1±5.9(t=3.191,P=0.002).病例组与对照组相比大、小腿IENFD均有减少,差异有统计学意义.51例患者中,皮肤神经活体组织检查异常48例(94.1%),其中33例表现为长度依赖性周围神经病变;41例行常规肌电图检查,21例异常(51.2%);21例行SSR检查,异常17例(81.0%).仅表现为小纤维病变症状和(或)体征的29例患者中,27例(93.1%)皮肤神经活体组织检查异常;其中20例行NCV,异常6例(30.0%);14例行SSR,11例异常.结论 皮肤神经活体组织检查操作简单安全,对于以小神经纤维受累为主的周围神经病皮肤神经活体组织检查有较高的灵敏度.     

线粒体肌病合并周围神经病的临床病理研究

目的:分析线粒体肌病合并周围神经病的临床特点、电生理和病理特征。方法:对10例肌肉活检确诊为线粒体肌病同时又合并周围神经病的患者从临床症状与体征、电生理检查和腓肠神经活检等几方面予以分析,并探讨周围神经病的病理基础。结果:本组10例患者中1例仅有临床下受累,另外9例表现为轻中度感觉运动性周围神经病,以感觉症状为重。结论:对线粒体肌病患者应将详细的神经系统查体与神经电生理检查相结合,提高周围神经病的检出率。电生理检查和腓肠神经活检有助于诊断。周围神经病的发病机制可能与线粒体功能异常有关。     

常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病的周围神经改变

目的报道常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病（CADASIL）患者的周围神经电生理和病理改变特点。方法7例经病理和基因检查确诊的CADASIL患者，女性5例，男性2例。年龄在33～46岁之间，病程从4个月到3年不等。其中1例出现手套袜套样痛觉减退及四肢腱反射减弱。除1例有长期饮酒史外，所有被检者均无其他导致周围神经损害的危险因素。其中3例进行了周围神经电生理检查。7例患者均进行了腓肠神经活体组织的光镜和电镜检查。结果电生理检查显示1例患者的感觉和运动神经以及另1例患者的运动神经传导速度减慢。腓肠神经病理检查显示7例患者均出现轻到中度的有髓神经纤维脱失，6例出现薄髓鞘有髓神经纤维，4例出现个别小有髓神经纤维变性改变，3例伴随小有髓神经纤维的再生簇结构。1例可见血管周围少量炎细胞浸润，5例患者神经滋养动脉的血管平滑肌细胞出现脱失，2例出现增生改变，5例毛细血管基底膜肥厚。结论CADASIL周围神经病多存在亚临床的神经纤维脱失，髓鞘损害比较突出。周围神经的病理改变可能主要与组织缺血有关，不同Notch3基因突变者周围神经损害程度存在差异。     

桡神经超声结合神经传导检查在糖尿病周围神经病变患者中的应用

目的:探讨2型糖尿病伴周围神经病变患者桡神经的超声特征及电生理表现,企为临床诊治及预后评估提供参考依据.方法:选取西宁市第一人民医院70例2型糖尿病患者,分为合并周围神经病变组35例及未合并周围神经病变组35例,同时选择健康体检者35例作对照,所有受检者行桡神经超声检查及神经传导检测.结果:糖尿病合并周围神经病变者桡神经超声表现为神经束回声减低,平行线状低回声结构消失,神经外膜增厚分界不清;神经传导检测提示桡神经运动传导速度(MCV)及感觉传导速度(SCV)均有异常,且SCV更为敏感,异常率更高;糖尿病未合并周围神经病变组与正常对照组超声及神经传导检查比较,差异无统计学意义.结论:超声与神经传导检查两者结合,可以从功能及形态学两方面更明确地为临床提供糖尿病患者是否合并周围神经病的依据和判断病变程度,有助于临床诊治及预后评估.     

Epidermal nerve fiber density and sural nerve morphometry in peripheral neuropathies

OBJECTIVE: To study intraepidermal nerve fiber (IENF) density in distal leg skin biopsies, sural nerve morphometry, electrophysiology, and clinical features in patients with peripheral neuropathies. METHODS: We studied 26 patients with neuropathic complaints who had undergone clinical evaluation, nerve conduction studies, distal leg skin biopsy, and sural nerve biopsy. We quantified densities of IENF and of myelinated and unmyelinated fibers in the sural nerve. Associations among skin and sural nerve morphometric measures and sensory nerve action potential (SNAP) amplitudes were examined nonparametrically. Morphometric measures were examined with respect to diagnostic category of neuropathy. RESULTS: IENF density correlated with the densities of sural nerve total myelinated (r = 0.57, p = 0.0011), small myelinated (r = 0.53, p = 0.0029), and large myelinated fibers (r = 0.49, p = 0.0054). There was a trend toward an association between IENF and sural nerve unmyelinated fiber densities (r = 0.32, p = 0.054). Sural SNAP amplitude and large myelinated fiber densities were highly correlated (r = 0.87, p < 0.0001). IENF density and sural nerve small fiber measures were concordant in 73% of patients. Reduced IENF density was the only indicator of small fiber depletion in 23% of cases. It was usually normal in acquired demyelinating neuropathies and where clinical suspicion for neuropathy was low. CONCLUSIONS: Distal leg Intraepidermal nerve (IENF) density may be more sensitive than sural nerve biopsy in identifying small fiber sensory neuropathies. Assessments of IENF density and large fiber measures on biopsy and electrophysiology are both useful for characterizing sensory and sensorimotor neuropathies.     

Clinical utility of peripheral nerve biopsy

Histopathologic evaluation of nerve biopsy specimens provides important diagnostic information in some patients with peripheral neuropathy. The role of nerve biopsy is more restricted than that of muscle biopsy. Nerve biopsy is utilized mainly for diagnosis of vasculitis and infiltrative neuropathies. It is also utilized in diagnosis of atypical inflammatory demyelinating neuropathies in which the clinical, electrodiagnostic, and laboratory features are inconclusive. In addition, the study of nerve histopathology can also enhance our understanding of disease pathogenesis.     

Sensory action potentials and biopsy of the sural nerve in the neuropathy of nonmalignant IgMk plasma cell dyscrasia

Electrophysiological findings in 10 patients with polyneuropathy and nonmalignant IgMk plasma cell dyscrasia are reported. The amplitude of sensory action potentials and maximum conduction velocity along the sural and median nerves are related to the structural changes found at the biopsy and to the immunologic results. Quantitative analysis of the sural nerve showed a loss of large myelinated fibers in all 8 patients, in whom the nerve could be examined. The sural action potential as well as conduction velocity were undetectable in 4 cases, diminished in 5 and normal in 1. The primary mechanism underlying nerve damage in these neuropathies is discussed. It is suggested that the IgM paraprotein may act heterogeneously on the peripheral nerve's component.     

Negative sural nerve biopsy in neurolymphomatosis

Patients with non-Hodgkin’s lymphoma occasionally develop widespread invasion of peripheral nerves by tumor cells or neurolymphomatosis (NL). Clinically this usually results in asymmetrical, progressive, and painful polyneuropathy. Diagnosis rests on the identification of tumor cells in peripheral nerves. To avoid false-negative biopsy findings in patients with malignant lymphomatous infiltration of peripheral nerves it has been recommended to biopsy clinically involved nerves. We present two patients with histologically confirmed NL in whom sural the nerve biopsy finding was negative despite clinical and neurophysiological evidence of involvement of the sural nerve a. The clinical features of NL are reviewed. Some patients with neurolyphomatosis have only focal or proximal involvement of nerves, requiring the biopsy of an affected part of these nerves. Magnetic resonance imaging may be useful in identifying affected nerves. Received: 28 January 1999 Received in revised form: 7 July 1999 Accepted: 17 July 1999     

Epidermal nerve fiber density in sensory ganglionopathies: clinical and neurophysiologic correlations.

We assessed the involvement of somatic unmyelinated fibers in sensory ganglionopathies by skin biopsy and quantitative sensory testing (QST). Sixteen patients with ganglionopathy, 16 with axonal neuropathy, and 15 normal controls underwent skin biopsy at the proximal thigh and the distal leg. Intraepidermal nerve fibers (IENF) were immunostained by antiprotein gene product 9.5, and their linear density was quantified under light microscopy. Confocal microscopy studies with double staining of nerve fibers and basement membrane were also performed. Healthy subjects and neuropathy patients showed the typical proximodistal gradient of IENF density; in neuropathies, values were significantly lower at the distal site of the leg, confirming the length-dependent loss of cutaneous innervation. Conversely, ganglionopathy patients with hyperalgesic symptoms did not show any change of IENF density between the proximal thigh and the distal leg. The distinct pattern of epidermal denervation seen in sensory ganglionopathy reflected the degeneration of somatic unmyelinated fibers in a fashion that was not length-dependent, which was consistent with both clinical and neurophysiologic observations and supported the diagnosis.     

Usefulness of sural nerve biopsy in the genomic era

The value of peripheral nerve biopsy is now sometimes questioned due to the high complication rate and the recent development of noninvasive molecular techniques for diagnosis of hereditary neuropathy. However, the disorders that can be diagnosed by genetic analysis are limited and sural nerve biopsy is still a powerful tool for making a correct diagnosis of peripheral neuropathy. Histological evaluation of the sural nerve has long focused on changes of the two major components of peripheral nerves, axons and myelin, as well as on the detection of diagnostic changes such as amyloid deposits, sarcoid tubercles, and vasculitis. In addition to these components, the sural nerve biopsy specimen contains various important cells, including perineurial cells, mast cells, endothelial cells, pericytes, and lymphocytes. Among these cells, the endothelial cells and pericytes form the blood‐nerve barrier (BNB) and investigation of these cells can reveal important information, especially in inflammatory neuropathies. To better understand the biological basis of BNB, we established rat and human immortal cell lines from the endothelial cells and pericytes of endoneurial microvessels. Characterization of these cell lines is now underway at our laboratory. These BNB cell lines should provide useful information concerning the pathophysiology of peripheral neuropathy, and we should obtain a new perspective for the investigation of nerve biopsy specimens after understanding the molecular background of the BNB.     

Ultra–high‐frequency ultrasound imaging of sural nerve: A comparative study with nerve biopsy in progressive neuropathies

Introduction: Nerve ultrasound has been used increasingly in clinical practice as a complementary test for diagnostic assessment of neuropathies, but nerve biopsy remains invaluable in certain cases. The aim of this study was to compare ultra–high‐frequency ultrasound (UHF‐US) to histologic findings in progressive polyneuropathies. Methods: Ten patients with severe, progressive neuropathies underwent ultrasound evaluation of the sural nerve before nerve biopsy. Ultrasound data were compared with histologic results in a retrospective manner. Results: Sural nerves were easily identified on UHF‐US. Nerve hyperechogenicity correlated with inflammatory infiltrates on biopsy. Nerve fascicles could be identified and measured on ultrasound in the majority of patients. Discussion: Hyperechogenicity on UHF‐US may be a marker of nerve inflammation in neuropathies. Furthermore, the UHF‐US probe allows for evaluation of sensory nerves in spite of their small size, providing valuable information on their size and on their internal structure.     

Diagnostic and therapeutic value due to suspected diagnosis, long-term complications, and indication for sural nerve biopsy

In order to elicit the usefulness of sural nerve biopsy we retrospectively evaluated the courses of disease of every patient, who underwent this procedure in our department between January 1995 and March 2000. Sixty seven patients with the suspected diagnosis of peripheral neuropathy could be included. From these chart reviews and patient questionings were done. Inflammatory-demyelinating neuropathies were suspected in 14 patients (20.9%), specific histological findings confirmed diagnosis in 50% of these patients and resulted in therapy. In cases of polyneuropathy of unknown etiology (46 patients, 68.6%) diagnosis was made in 11 patients (23.9%), and lead to therapy in 9 patients (19.6%), merely. In all, diagnostic consequences arouse in 32.8%, therapeutic consequences in 26.9%. The follow-up of 47 patients (mean 24.4 months) found chronic pain in the distribution of the sural nerve in 14 patients (29.8%), dysesthesia in 22 patients (46.8%), and persistent sensory loss in 34 patients (72.3%). Only 24 patients (51.1%) would submit to biopsy again. Because of high complication rates and poor results we conclude that sural nerve biopsy should be done only in carefully selected cases after thorough clinical work-up, and should be limited to cases of suspected inflammatory neuropathies, collagenoses and immunologic neuropathies, and hereditary neuropathies.