中枢神经系统疾病与蛋白质组学

蛋白质组学是指对基因组编码的所有蛋白质进行大规模分析的一门学科。研究方法包括蛋白质分离技术(双向凝胶电泳、色谱技术、同位素编码亲和标签等)、质谱技术及生物信息学技术等。蛋白质组学为人类疾病的研究提供了崭新的思路和技术,通过表达蛋白质组学及功能蛋白质组学揭示疾病的发病机制。通过脑脊液及脑组织蛋白质组学阐明中枢神经系统疾病的发生、发展及转归的分子机制。寻找疾病特异性蛋白质,为创伤、肿瘤、感染及癫疒间等中枢系统疾病的研究提供有力的工具。     

Chronic Granulomatous Disease Involving the Central Nervous System

Two male sibling infants died following a short course of lethargy and obtundation after a lifelong history of persistent, unrelenting diarrhea. Postmortem examination revealed extensive necrosis and early granuloma formation in the liver, spleen, lungs, and lymph nodes as well as in the central nervous system. To our knowledge, this fulminant clinical course, with documentation of granulomatous CNS lesions, has not been reported in patients with chronic granulomatous disease of childhood.     

Investigations on Genetic Neurological Disorders of The Central Nervous System Involving Primarily Myelin Metabolism and Their Animal Counterparts

Several genetic neurological diseases involve primarily myelin or the myelin supporting cell, i.e. the oligodendrocyte in the central nervous system, or the Schwann cell in the peripheral nervous system. Biochemical studies of these diseases are still scarce and post-mortem findings are often difficult to interpret on account of non-specific pre-mortem changes. Experimental models appear particularly useful, especially murine species which myelinate post-natally in the brain. The discovery of mutations in the mouse whose phenotypic expression involves mainly myelination has provided a new tool to study the genetic pathology of myelin.     

Central Nervous System Leukemia and Cushing Syndrome

We treated a child with acute lymphoblastic leukemia who developed central nervous system leukemia and obesity due to Cushing syndrome. The infiltration of leukemic cells was gradually ameliorated with intrathecal nethotrexate therapy. At the same time, clinical symptoms of Cushing syndrome have almost normalized. The relation between central nervous system leukemia and Cushing syndrome is discussed.     

中枢神经系统白血病的诊治现状

采用现代治疗方案已使70%~80%小儿急性淋巴细胞白血病(ALL)达到长期无病生存即治愈。中枢神经系统白血病(CNSL)的预防治疗是小儿ALL治疗的组成部分。如果不进行系统的针对CNSL的预防治疗,整个疾病过程中CNSL发生率达70%。采取防治措施后CNSL发生率可降至5%以下。本文就CNSL若干     

全身性血管炎的中枢神经系统表现

全身性血管炎是一组以血管炎性反应为共同病理变化、多器官多系统受累为主要临床表现的血管炎性疾病.伴随的中枢神经系统血管炎或向颅内供血的血管发生炎性反应坏死病变,均导致脑缺血、颅内出血或结节样病灶,引发中枢神经系统临床表现.     

遗传性疾病的中枢神经系统表现

累及中枢神经系统的遗传病种类繁多,且每年都会有一些新的病种报告,现仅就伴中枢神经系统表现的常见遗传性疾病(不包括遗传代谢病),如染色体病和运动神经元疾病的临床表现作一概述.     

Primary Pelvic Neuroblastoma with Central Nervous System Metastases

Secondary intracranial neuroblastoma is an extremely rare site of metastasis from primary extracranial disease. Direct parenchymal involvement of the neuraxis without disease involving the overlying bone, dura, or venous sinuses is even rarer. We report a case of pelvic neuroblastoma with cerebral and cerebellar metastasis and communicating hydrocephalus, probably caused by diffuse leptomeningeal involvement. Clumps of neuroblastoma cells were seen in the cerebrospinal fluid (CSF). The CSF pathway was the probable route for neuraxis dissemination.     

Neural Crest and Central Nervous System Malformation*

ABSTRACT The normal development of some neural crest derivatives and the spinal cord, and the neuropathology of the neurocutaneous syndrome were studied. In developing human embryos and fetuses, HNK-1 was expresed in the intermediate zone of the neural tube and somites in 3–4 week embryos and weakly remained in the white matter until 20 weeks’gestation, and remained positive in peripheral nerves from embryo to adult. High signal intensity was observed in the basal ganglia, brainstem and cerebellum on T2-weighted MRI. Neuropathological examination revealed proliferation of astroglial fibers in the leptomeninges and the perivascular area in the cerebellum and basal ganglia. In tuberous sclerosis, immunohistochemistry revealed GFAP-positive structure in the dermis of adenoma sebaceum. Giant astrocytes in tubers and tumors were positive for GFAP and NSE. Thus, the tumor cells have the characteristics of both astrocytes and neurons. HNK-1 immunoreactivity reappeared in tissue surrounding giant astrocytoma. The nuropathology of hemimegalencephaly comprised abnormal gyration, LGH, disturbed lamination, large neurons and increased neuronal heterotopia in the subcortical and deep white matter. Fenitin-positive oligodendroglia were increased on affected side. The dysplasia may have arisen from neural crest cells.     

Central Nervous System Involvement in Congenital Visceral Fibromatosis

Congenital visceral myofibromatosis is an uncommon disorder characterized by multiple tumors of myofibroblastic origin in the neonatal period. The natural history of the disorder has been well delineated. The myofibro blast is the cell of origin of the tumor. This is a report of a patient in whom multiple mesenchymal tumors occurred in the CNS as well as in other organs. Light and electron microiscopic findings of the CNS lesions are similar to those of the somites and viscera.     

Primary Pelvic Neuroblastoma with Central Nervous System Metastases

Secondary intracranial neuroblastoma is an extremely rare site of metastasis from primary extracranial disease. Direct parenchymal involvement of the neuraxis without disease involving the overlying bone, dura, or venous sinuses is even rarer. We report a case of pelvic neuroblastoma with cerebral and cerebellar metastasis and communicating hydrocephalus, probably caused by diffuse leptomeningeal involvement. Clumps of neuroblastoma cells were seen in the cerebrospinal fluid (CSF). The CSF pathway was the probable route for neuraxis dissemination.     

Central Nervous System Disease in Acute Lymphoblastic Leukemia

This letter is written after reading the article by Kreuger et al¹ and the excellent editorial by Judith Chessells² concerning the prognosis of boys vis-avis girls with ALL.     

中枢神经系统暗色丝孢霉病1例及文献复习

目的探讨中枢神经系统暗色丝孢霉病的临床特征、诊断、治疗及预后。方法对收住1例患儿的临床表现、实验室检查、头颅影像学检查、脑活检组织病理及培养结果进行分析,随访观察其疗效。结果患儿为3岁6个月男童,因间断头痛伴呕吐3个月、双下肢乏力伴尿潴留9 d入院。头颅CT与MRI平扫示颅内多发钙化灶伴周围明显水肿,胸腰椎MRI提示T7椎体水平脊髓局灶信号异常,增强MRI扫描示病灶周边强化。颅内病变处活检提示变性坏死肉芽肿性炎症,其中见暗色粗大的真菌菌丝和芽孢。活检组织与脑脊液培养出同一病原,经鉴定为皮炎外瓶霉。应用两性霉素B与伊曲康唑2个月,疗效不佳,患者自动出院,1个月后死亡。结论皮炎外瓶霉引起的中枢神经系统暗色丝孢霉病非常少见,是最严重的真菌感染类型;组织病理检查与培养是确诊的依据,该病治疗困难,预后不佳。     

儿童中枢神经系统感染的影像学诊断

儿童中枢神经系统感染主要包括先天性脑组织感染以及中枢神经系统的化脓性、病毒性、结核性、真菌或寄生虫感染.通过简要综述常见的发生于儿童中枢神经系统的各种感染,分析其影像学特点,以期提高对该类疾病的认识和诊断水平.