Diagnostic techniques in metachromatic leukodystrophy

In the past the diagnosis of metachromatic leukodystrophy has been based largely on histochemical and histopathological examination sis of ASA, the enzyme involved with the degradation of sulfatides, in such biological materials as urine, leukocytes, or fibroblast tissue cultures provides a more readily available method which is less hazardous and is of similar pathognomonic significance. In this case, such diagnostic techniques were successfully used; furthermore, the accumulation of glycolipid sulfatide in tissue-cultured fibroblasts is histochemically demonstrated for the first time. The histochemical demonstration of this phenomenon employs a cresyl violet stain.