Cholesteryl ester storage disease:: Case report during childhood

被引：5

作者：

Akçören, Z ^{[1
]}

Gögüs, S

Koçak, N

Gürakan, F

Özen, H

Yüce, A

机构：

[1] Hacettepe Univ, Childrens Hosp, Pediat Pathol Unit, TR-06100 Ankara, Turkey

[2] Hacettepe Univ, Childrens Hosp, Pediat Gastroenterol Unit, TR-06100 Ankara, Turkey

来源：

PEDIATRIC AND DEVELOPMENTAL PATHOLOGY | 1999年 / 2卷 / 06期

关键词：

cholesteryl ester storage disease; lysosomal acid lipase; liver biopsy;

D O I：

10.1007/s100249900164

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Cholesteryl ester storage disease (CESD) is rare and characterized by accumulation of cholesteryl esters and triglycerides in many tissues due to the deficiency of lysosomal acid lipase. We report a 3 1/2-year-old child with CESD. The diagnosis was indicated by liver biopsy and confirmed by reduced acid Lipase activity in leukocytes.

引用

页码：574 / 576

页数：3

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