MRI技术对高原人群颅脑脱髓鞘疾病回顾性研究

目的研究高原地区,脱髓鞘疾病与中老年人疾病等因素的关系。方法对我院所有接受过磁共振头部扫描的病人进行评估,确诊出40位脱髓鞘疾病患者,并对大脑7个部位的脱髓鞘疾病按严重性分4级打分,统计临床数据,最后运用统计学方法分析其相关性。结果在40例患者中,出现在大脑半球、放射冠、半卵圆中心和脑室前后角的脑白质损伤频率最多,分别占总量的50%、67.5%、77.5%和87.5%。脑白质损伤患者的平均年龄为47.1岁,这比世界其他地区都有明显的提前。男性患者将近是女性患者的3倍(29∶11)。年龄、慢性高原红细胞增多症、收缩压、脑梗塞与脑白质损伤正相关(P<0.05)。结论对于高海拔地区,有效控制高原心血管疾病的发生对于减少颅脑脱髓鞘疾病的发生具有重要意义。     

伴有周围神经病变的多发性硬化

目的分析5例伴周围神经病变的多发性硬化的临床电生理、实验室检查和MRI改变,探讨多发性硬化合并周围神经损害的临床特点和发病机制。方法回顾性总结5例伴发周围神经病损的多发性硬化的脑脊液生化,免疫学检查、寡克隆带,电生理检查,MRI及其它有助于鉴别诊断的检查。结果5例均为伴有周围神经病变的多发性硬化,电生理提示广泛周围神经病损,既有脱髓鞘改变,又有轴突变性。结论由于中枢神经系统与周围神经系统髓鞘存在着共同的抗原性成分,故MS患者的中枢神经系统与周围神经系统可以同时发生脱髓鞘改变。     

Novel C59T leader peptide mutation in the MPZ gene associated with late-onset, axonal, sensorimotor polyneuropathy

The objective of this study was to report a novel exon-1 mutation in the myelin protein zero (MPZ) gene, resulting in axonal Charcot–Marie–Tooth neuropathy with recurrent hyper-CK-emia. In a 64-year-old woman slowly progressive distal lower limb weakness, muscle cramps in the lower limb muscles, and stocking-type numbness had developed from the age of 61. Neurologic examination revealed discrete hip flexor weakness, weakness for foot extension, diffuse wasting of the distal lower limb muscles, reduced patella tendon reflexes, and absent Achilles tendon reflexes. There was recurrently elevated creatine kinase with a maximum of 607 U/l ( n , <145 U/l). Stimulation of the peroneal and tibial nerves did not evoke a muscular response. Electromyography was neurogenic. Biopsy of the right sural nerve showed diffuse axonal degeneration and loss of axons of all diameters. Muscle biopsy showed increased fiber-size variability, angulated fibers, internalized nuclei, accumulations of nuclei, grouped atrophic muscle fibers, and fiber splitting. Molecular genetic analysis by PCR and direct nucleotide sequencing revealed the heterozygous C59T exon-1 MPZ gene mutation, resulting in the amino acid exchange S20F of the MPZ signal protein domain (leader peptide). The novel C59T mutation in the leader peptide of the MPZ gene is pathogenic and manifests as severe, late-onset, axonal, symmetric sensorimotor polyneuropathy (CMT2) and hyper-CK-emia.     

Widenings of the myelin lamellae in a typical Guillain–Barré syndrome

The so-called “widenings of the myelin lamellae” are thought to be specific ultrastructural features of peripheral nerve myelin in patients with peripheral neuropathy associated with a monoclonal dysglobulinemia of IgM type and antiglycolipid activity. We report here a case of Guillain–Barré syndrome with no evidence of serum monoclonal dysglobulinemia, presenting the typical widenings of the myelin lamellae in small-diameter myelinated fibers from a sural nerve biopsy. In view of the positive reaction with anti-C3d complement on direct immunofluorescence, an immunological mechanism may be involved in the widenings of the myelin lamellae. © 1994 John Wiley & Sons, Inc.     

Coronavirus induced primary demyelination: indications for the involvement of a humoral immune response

Coronavirus MHV-JHM infection of rodents can result in demyelinating encephalomyelitis. We analysed histological changes induced by coronavirus MHV-JHM infection in Lewis rats. Besides an acute disease (AE), chronic panencephalitis (CPE) and subacute demyelinating encephalomyelitis (SDE) were induced. These disease types were differentiated by the incubation period, the localization of lesions, the type of tissue damage and distribution of virus antigen. In AE and CPE, virus antigen was detected in neurons, astrocytes and oligodendrocytes, whereas in SDE neurons lacked virus antigen. Viral nucleocapsid protein (N) was present in the cytoplasm and the spike protein (S) was displayed on the surface of infected neural cells. However, expression of S protein relative to N protein was severely impaired in SDE lesions. Quantitative analysis of infiltrating inflammatory cells revealed that the number of macrophages and T cells were similar in lesions of AE, CPE and SDE. In contrast to that, SDE lesions contained a significantly higher number of IgG + B cells and plasma cells. In addition active demyelinating SDE lesions displayed an enhanced IgG content and deposits of complement C9. These results indicate that virus induced primary demyelination could be a consequence of antibody mediated cytotoxicity. Furthermore, a reduction in the number of cells producing spike protein in the chronic forms of the disease indicates down-regulation of this protein, possibly mediated by anti-S antibodies.     

A primary demyelinating disorder of young cattle

The clinical signs and neuropathological changes are described in six Limousin X calves that, at about one month after birth, showed signs of blindness, nystagmus, rotation of the eyes, opisthotonos, hyperprotraction of the forelegs and, in one case, apparent seizures. Pathologically there was necrosis of the optic chiasma and focal areas of myelin sheath vacuolation or demyelination in certain areas of the brain, especially in the cerebellar peduncles. In one animal, kept alive for 7 months, there was remyelination by Schwann cells of some demyelinated axons in the focal cerebellar lesions, while other axons remained demyelinated. There was no evidence of oligodendrocyte remyelination. The cause of the condition was not determined but a genetic association is likely.     

Acute severe combined demyelination

We present a second case in which Guillain-Barré syndrome (GBS) and acute disseminated encephalomyelitis (ADEM) appeared simultaneously, both in acute and fulminant form. The patient, a 10-year-old girl, presented with acute onset of coma and flaccid, areflexic quadriparesis. The elevated CSF protein levels and delayed F waves fulfilled the criteria of GBS and an MRI study revealed extensive multifocal demyelination compatible with a diagnosis of ADEM. Prompt clinical response followed by complete recovery was achieved by treatment with corticosteroids. It is suggested that acute severe combined demyelination might constitute a separate entity in which the demyelinating process, involving simultaneously the central and the peripheral nervous systems, indicates immune response against a component of the myelin of one system carrying cross-antigenicity with the other.