A patient with type 2 Gaucher's disease with respiratory disease

被引：7

作者：

Shebani, E

Johannesson, M

Strömberg, B

Roomans, GM

机构：

[1] Uppsala Univ, Dept Med Cell Biol, SE-75123 Uppsala, Sweden

[2] Uppsala Univ, Dept Womens & Childrens Hlth, SE-75123 Uppsala, Sweden

来源：

JOURNAL OF PEDIATRICS | 2003年 / 142卷 / 02期

关键词：

D O I：

10.1067/mpd.2003.50

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A 5-month-old boy had respiratory problems and gastroesophageal reflux. Electron microscopy of a tracheal biopsy specimen showed accumulation of lamellar bodies in the columnar cells indicative of lysosomal storage disease. Subsequently, the child had neurologic symptoms and hepatosplenomegaly, and the diagnosis of Gauchef's disease type 2 was made.

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页码：209 / 210

页数：2

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