Suppr超能文献

[成人进行性痉挛性截瘫的鉴别诊断要点,重点关注神经代谢性疾病]

[Differential diagnostic aspects of progressive spastic paraplegia in adults with emphasis on neurometabolic diseases].

作者信息

Waespe W, Vogel Wigger B M, Bächli E, Boltshauser E

机构信息

Neurologische und Medizinische Klinik, Universitätsspital Zürich.

出版信息

Praxis (Bern 1994). 1995 Apr 18;84(16):473-7.

PMID:7724960
Abstract

The differential diagnosis of a progressive spastic paraparesis in the young adult is broad and includes rare neuro-metabolic diseases like cerebro-tendinous xanthomatosis, adrenomyeloneuropathy and hypovitaminosis. Their clinical presentation as well as the result of paraclinical examinations can be similar to those of multiple sclerosis. The early recognition of these diseases is important, because a dietary regimen may reduce the severity and progression of symptoms and signs and genetic counselling can be important. The relevant biochemical examinations for their detection are discussed. These neuro-metabolic diseases have to be differentiated from other neuro-degenerative diseases like amyotrophic lateral sclerosis and hereditary spastic paraplegias.

摘要

年轻成人进行性痉挛性截瘫的鉴别诊断范围广泛,包括罕见的神经代谢性疾病,如脑腱黄瘤病、肾上腺脊髓神经病和维生素缺乏症。它们的临床表现以及临床旁检查结果可能与多发性硬化症相似。早期识别这些疾病很重要,因为饮食方案可能会减轻症状和体征的严重程度及进展,而遗传咨询也可能很重要。文中讨论了用于检测这些疾病的相关生化检查。这些神经代谢性疾病必须与其他神经退行性疾病,如肌萎缩侧索硬化症和遗传性痉挛性截瘫相鉴别。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验