Schröder J, Haan J, Haupts M
Neurologische Klinik, Ruhr-Universität am St. Josef-Hospital, Bochum.
Nervenarzt. 1988 May;59(5):296-8.
Examining the members of a family the validity of chemical analysis, neurophysiology and neuroimaging for the diagnosis of metachromatic leukodystrophy (MLD) is discussed. As the arylsulfatase A is not decreased in all cases, the neuroimaging (cranial computerized tomography--at a less extend magnetic resonance imaging) gains a particular diagnostic significance. But neither for neuroimaging nor for neurophysiological findings the results are specific. The histological findings have to back up the diagnosis.
通过对一个家族成员的检查，讨论了化学分析、神经生理学和神经影像学在诊断异染性脑白质营养不良（MLD）中的有效性。由于并非所有病例中的芳基硫酸酯酶A都会降低，神经影像学（头颅计算机断层扫描——在较小程度上还有磁共振成像）具有特殊的诊断意义。但无论是神经影像学还是神经生理学检查结果都不具有特异性。组织学检查结果必须支持诊断。
