Boltshauser E, Spycher M A
Klin Padiatr. 1986 Mar-Apr;198(2):79-83. doi: 10.1055/s-2008-1026858.
In our view, diagnostic work-up in chronic neurometabolic disorders should depend on history, age and sex of the patient, and on particular clinical signs, which often have to be looked for specifically. The value of screening methods is briefly discussed. As regards special investigations emphasis is given on the value and limits of cranial computed tomography and on ultrastructural examination of skin and conjunctival biopsies.
我们认为,慢性神经代谢紊乱的诊断检查应取决于患者的病史、年龄和性别,以及特定的临床体征,而这些体征往往需要专门寻找。本文简要讨论了筛查方法的价值。关于特殊检查,重点介绍了头颅计算机断层扫描的价值和局限性,以及皮肤和结膜活检的超微结构检查。