Kepes J J, Berry A, Zacharias D L
Department of Pathology and Oncology, University of Kansas College of Health Sciences and Hospital, Kansas City.
Pathology. 1988 Jul;20(3):285-91. doi: 10.3109/00313028809059509.
A fatal case of multiple sulfatase deficiency in a 10-year-old girl is reported. In this rare disease, which is inherited as an autosomal recessive, features of metachromatic leukodystrophy and of mucopolysaccharidoses occur together. The white matter suffers progressive destruction with sulfatides accumulating in macrophages; these stain metachromatically as golden brown granules with acetic acid thionin stain. Cortical and subcortical neurons are distended by lipids and mucopolysaccharides, and fibrous thickening of the leptomeninges leads to severe obstructive hydrocephalus. This entity can be regarded as a bridge between leukodystrophies and neuronal storage diseases both conceptually and in its morphological manifestations.
报告了一名10岁女孩患多重硫酸酯酶缺乏症的致死病例。在这种罕见疾病中，其遗传方式为常染色体隐性遗传，异染性脑白质营养不良和黏多糖贮积症的特征同时出现。白质遭受进行性破坏，硫脂在巨噬细胞中蓄积；用醋酸硫堇染色时，这些物质呈异染性，染成金棕色颗粒。皮质和皮质下神经元因脂质和黏多糖而肿胀，软脑膜纤维增厚导致严重的梗阻性脑积水。从概念和形态学表现来看，该病症都可被视为脑白质营养不良和神经元贮积病之间的桥梁。
