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I细胞病(黏脂贮积症II型)的眼部受累。光镜和电镜检查结果。

Ocular involvement in I-cell disease (mucolipidosis II). Light and electron microscopic findings.

作者信息

Borit A, Sugarman G I, Spencer W H

出版信息

Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1976 Jan 16;198(1):25-32. doi: 10.1007/BF00411441.

DOI:10.1007/BF00411441
PMID:1083152
Abstract

A 5 1/2 year old boy with I-cell disease (mucolipidosis II) had bilateral corneal haziness, early cortical cataracts and bilateral prominence of his eyes associated with shallow bony orbits. He died of pneumonia at age 5 1/2 years. Light and electron microscopic examination of the ocular and orbital tissues revealed an accumulation of acid mucopolysaccharide positive, hyaluronidase resistant material in fibroblasts and histiocytes which had partially replaced Bowman's membrane and the anterior stromal cells of the cornea. Similar material, as well as glycolipid-like substance, was found in the conjunctiva and in the retrobulbar soft tissues.

摘要

一名患有I细胞病(黏脂贮积症II型)的5岁半男孩,双眼角膜混浊、早期皮质性白内障,双眼突出伴眼眶骨质浅平。他于5岁半时死于肺炎。对其眼部和眼眶组织进行光镜和电镜检查发现,成纤维细胞和组织细胞内酸性黏多糖阳性、对透明质酸酶有抗性的物质积聚,该物质部分取代了角膜的Bowman膜和前基质细胞。在结膜和球后软组织中也发现了类似物质以及糖脂样物质。

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1
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Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1976 Jan 16;198(1):25-32. doi: 10.1007/BF00411441.
2
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本文引用的文献

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The genetic mucolipidoses.遗传性黏脂贮积症
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