title: [Metachromatic leukodystrophy. Results of laboratory chemical, neurophysiologic, histologic and imaging procedures within the scope of a family study].
abstract: 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.
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D001933:Brain Stem / Q000503:physiopathology; D002553:Cerebroside-Sulfatase / Q000172:deficiency; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D004569:Electroencephalography; D005072:Evoked Potentials, Auditory; D005074:Evoked Potentials, Visual; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D014057:Tomography, X-Ray Computed
chemical_list: D002553:Cerebroside-Sulfatase
vernacular_title: Metachromatische Leukodystrophie. Ergebnisse laborchemischer, neurophysiologischer, histologischer und bildgebender Verfahren im Rahmen einer Familienuntersuchung.