MORPHOLOGICAL AND BIOCHEMICAL STUDIES OF A CASE OF MUCOPOLYSACCHARIDOSIS II (HUNTER'S SYNDROME)
作者:
Kazuo Nagashima,
Hisako Endo,
Koko Sakakibara,
Yumiko Konishi,
Ko Miyachi,
Jau Jinn Wey,
Yoshiyuki Suzuki,
Jinichi Onisawa,
期刊:
Pathology International
(WILEY Available online 1976)
卷期:
Volume 26,
issue 1
页码: 115-132
ISSN:1320-5463
年代: 1976
DOI:10.1111/j.1440-1827.1976.tb03297.x
出版商: Blackwell Publishing Ltd
数据来源: WILEY
摘要:
An autopsy case of a 19‐year‐old boy who had shown typical gargoyle features, strictly consistent with mucopolysaccharidosis type II (Hunter's syndrome) was reported. Histologically, cytoplasmic vacuolar change was found In hepatocytes, sinusoidal epithelium of spleen, follicular cells of thyroid, Sertoli cells of testis, chromophobe cell of pituitary and generalized fibroblast‐like cells including meninges, cardiac valve and periosteum. The vacuoles consisting of membrane‐bound structures with flocculus protein‐like material and occasional electron dense bodies on electron microscopy, were considered to be the site of mucopolysaccharide deposition by histochemical analysis. Deposition of lipid material consistent with so‐called membranous cytoplasmic body was observed in the neurons of central, peripheral and autonomic nervous system. Hepatosplenomegaly could be explained by cytoplasmic deposition, but the cause of cardiomegaly remained further to be studied. Biochemically hepatic mucopolysaccharide was identified as heparan sulfate, while in the kidney dermatan sulfate and heparan sulfate were detected. The correlation between morphology and biochemistry, and between deposition and degeneration wa
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