Waespe W, Vogel Wigger B M, Bächli E, Boltshauser E
Neurologische und Medizinische Klinik, Universitätsspital Zürich.
Praxis (Bern 1994). 1995 Apr 18;84(16):473-7.
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.
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。