Hydrops fetalis: Manifestation in lysosomal storage diseases including Farber disease

被引：30

作者：

Kattner, E

Schafer, A

Harzer, K

机构：

[1] WANDSBEK GEN HOSP,DEPT PATHOL,HAMBURG,GERMANY

[2] UNIV TUBINGEN,BRAIN RES INST,NEUROCHEM LAB,TUBINGEN,GERMANY

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1997年 / 156卷 / 04期

关键词：

lipogranulomatosis; Farber disease; hydrops fetalis; lysosomal storage diseases; BETA-GLUCURONIDASE DEFICIENCY; NIEMANN-PICK DISEASE; NONIMMUNE HYDROPS; MUCOPOLYSACCHARIDOSIS-VII; NEURAMINIDASE DEFICIENCY; GAUCHER DISEASE; MANAGEMENT; DIAGNOSIS; ASCITES; NEWBORN;

D O I：

10.1007/s004310050603

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The authors describe a case of disseminated lipogranulomatosis (Farber disease) presenting as nonimmune hydrops fetalis. This is the tenth lysosomal storage disease which can show this clinical manifestation. The literature is reviewed for all hydrops cases associated with lysosomal storage diseases. Conclusion Although rare, the lysosomal storage diseases collectively are significant causes of nonimmune hydrops and appropriate investigations are required in all cases of unexplained hydrops fetalis.

引用

页码：292 / 295

页数：4

共 46 条

[1] GM1 GANGLIOSIDOSIS PRESENTING AS NEONATAL ASCITES [J].