Cain H, Egner E, Kresse H
Beitr Pathol. 1977 Apr;160(1):58-72.
This is a report of two brothers iwth mucopolysaccharidosis. The 8- and 10-year-old boys presented the characteristic clinical symptoms of the syndrome in their entirety. Both had a highly increased excretion of heparan sulfate in urine. The elder boy died and was autopsied and diagnosed as having Sanfilippo disease Typ A by a drastic reduction of heparan sulfate sulfamidase activity in organ extracts. Histochemically, highly water-soluble, sulfate acid mucopolysaccharides were demonstrated in liver, spleen, and cerebrum of the deceased child. Chemical analyses revealed a 12-fold increase of sulfated mucopolysaccharide in the patients liver and a 4.5-fold increase in the cerebrum when compared with normal controls. The sulfated polysaccharide consisted mainly of heparan sulfate, which was of low molecular size, heterogeneous in charge, and rich in its sulfamino hexose content. In addition, the gangliocytes of cerebrum and cerebellum had accumulated glycolipids. Electron microscopically the storage cells were overloaded with lysosomal residual bodies. The mitral valve was also involved in the storage process, which is a rare manifestation of the Sanfilippo syndrome. Acid mucopolysaccharides were deposited intracellularly as well as extracellularly in the mitral valve tissue. Polarisation microscopically there was found a change from normally positive to negative birefringence in the connective tissue ground substance of the mitral valve when containing stored mucopolysaccharides.
这是一份关于两名患有黏多糖贮积症兄弟的报告。这两名8岁和10岁的男孩完全呈现出该综合征的典型临床症状。两人尿中硫酸乙酰肝素的排泄量均大幅增加。年长的男孩去世后进行了尸检，通过器官提取物中硫酸乙酰肝素硫酸酯酶活性的急剧降低，被诊断为A型桑菲利波病。组织化学检查显示，在已故儿童的肝脏、脾脏和大脑中存在高度水溶性的酸性硫酸黏多糖。化学分析表明，与正常对照组相比，患者肝脏中的硫酸化黏多糖增加了12倍，大脑中增加了4.5倍。硫酸化多糖主要由硫酸乙酰肝素组成，其分子大小较小，电荷不均一，且富含氨基己糖硫酸盐。此外，大脑和小脑的神经节细胞积累了糖脂。电子显微镜检查发现，储存细胞充满了溶酶体残余小体。二尖瓣也参与了储存过程，这是桑菲利波综合征的一种罕见表现。酸性黏多糖在二尖瓣组织的细胞内和细胞外均有沉积。偏振显微镜检查发现，当二尖瓣结缔组织基质中含有储存的黏多糖时，其双折射从正常的阳性变为阴性。
