Shimamura K, Hakozaki H, Takahashi K, Kimura A, Fujino J
Acta Pathol Jpn. 1976 Nov;26(6):739-64. doi: 10.1111/j.1440-1827.1976.tb00529.x.
An autopsy case of a 9 years and 5 months old gargoyle girl diagnosed as Sanfilippo B syndrome by the biochemical demonstration of a large amount of heparan sulfate in urine and some organs and of deficiency of alpha-N-acetyl-D-glucosaminidase in the liver and brain was reported. The morphological changes characterized by cytoplasmic swelling and vacuolization were more generalized than those which had been described in previously reported cases. Histochemically, accumulation of variable amounts of acidic glycosaminoglycans and compound lipids, presumably gangliosides and phospholipids, was substantiated in the vacuolated cells of various visceral organs and in the ballooned neuronal cells. Ultrastructurally, numerous inclusions found in these cells were largely divided into two types; flocculent reticulogranular and osmiophilic, mostly laminated materials, many of which were bound by a single unit membrane. Enzyme cytochemistry proved acid phosphatase activity in the majority of the inclusions in fibroblasts and fibrocytes biopsied from the skin. Rough endoplasmic reticulum in these cells was markedly dilated with reticulogranular materials. The morphological changes of the present case and their pathogenesis were discussed.
报告了一例9岁5个月大的“石像鬼”女孩尸检病例，通过尿液和一些器官中大量硫酸乙酰肝素的生化检测以及肝脏和大脑中α-N-乙酰-D-氨基葡萄糖苷酶的缺乏，诊断为Sanfilippo B综合征。以细胞质肿胀和空泡化为特征的形态学变化比先前报道的病例更为普遍。组织化学上，在各种内脏器官的空泡化细胞和气球样神经元细胞中证实了不同量的酸性糖胺聚糖和复合脂质（可能是神经节苷脂和磷脂）的积累。超微结构上，在这些细胞中发现的大量包涵体主要分为两种类型：絮状网状颗粒状和嗜锇性，大多为层状物质，其中许多被单个单位膜包围。酶细胞化学证明，从皮肤活检的成纤维细胞和纤维细胞中的大多数包涵体具有酸性磷酸酶活性。这些细胞中的粗面内质网明显扩张，充满网状颗粒物质。讨论了本病例的形态学变化及其发病机制。
