Metachromatic Leukodystrophy (Sulfatase A Deficiency) and Multiple Sulfatase Deficiency
Metachromatic Leukodystrophy (Sulfatase A Deficiency) and Multiple Sulfatase Deficiency
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异染性脑白质营养不良（硫酸酯酶 A 缺乏症）和多种硫酸酯酶缺乏症
DOI：
10.1007/978-3-7091-3338-5_38
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发表时间：
1975
期刊：
影响因子：
--
通讯作者：
R. Friede
中科院分区：
文献类型：
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作者：
R. Friede
异染性脑白质营养不良最早见于成人。Alzheimer（1910）对一例病例进行了简要的总结，他将其描述为一种白色物质疾病，髓鞘被破坏，神经胶质细胞中有大量明亮的异染性沉积物。Witte（1921）报道了类似的发现，并认识到异染颗粒在神经元胞体、肝、肾、胆囊、垂体前叶和睾丸中的蓄积;他认为，从排泄到尿中的异染物质中可以进行疾病的体内诊断。Kaltenbach（1922）首次详细描述了白色病变的组织病理学。这些对异染性脑白质营养不良的许多基本显微特征的早期描述对随后的报告中其分类的影响相对较小，因为异染性的化学性质不被理解，并且其对疾病分类的意义没有被认识到。因此，婴儿异染性脑白质营养不良的第一个描述强调了其他不太具体的标准，如其家族发生，发病年龄或进展速度，将异染性沉积物解释为“前脂质”，或在少突胶质细胞的影响中具有高度的选择性。Brain和格林菲尔德（1950）确定了该病晚期婴儿病程的临床特征，并将沉积物的异染性染色确定为疾病分类的关键特征，这一点值得肯定。
Metachromatic leukodystrophy was first described in adults. Alzheimer (1910) gave a brief abstract of a case which he characterized as a white matter disease with destruction of myelin and abundant, brightly metachromatic deposits in glia cells. Witte (1921) reported similar findings and recognized the accumulation of metachromatic granules in neuronal perikarya and in liver, kidney, gallbladder, anterior pituitary and testes; he suggested thatin vivodiagnosis of the disease should be possible from metachromatic material excreted into the urine. Kaltenbach (1922) gave the first detailed description of the histopathology of the white matter lesions. These early descriptions of many of the essential microscopic features of metachromatic leukodystrophy had relatively little impact on its classification in subsequent reports, because the chemistry of metachromasia was not understood, and its significance for the classification of the disease was not realized. Hence, the first descriptions of metachromatic leukodystrophy in infants emphasized other, less specific, criteria such as its familial occurrence, the age of onset or rate of progression, the interpretation of the metachromatic deposits as “prelipoids”, or a high degree of selectivity in the affectation of oligodendroglia. Brain and Greenfield (1950) defined the clinical features of the late infantile course of the disease and deserve the credit for identifying the metachromatic staining of the deposits as the key feature in classifying the disease.