Hyperphosphatasemia in early diagnosed infantile GM1 gangliosidosis presenting as transient hydrops fetalis

被引：6

作者：

Denis, R ^{[1
]}

Wayenberg, JL ^{[1
]}

Vermeulen, M ^{[1
]}

Gorus, F ^{[1
]}

Gerlo, E ^{[1
]}

Lissens, W ^{[1
]}

Liebaers, I ^{[1
]}

Jauniaux, E ^{[1
]}

Vamos, E ^{[1
]}

机构：

[1] HOP FRANCAIS,SERV PEDIAT & GYNECOL,BRUSSELS,BELGIUM

来源：

ACTA CLINICA BELGICA | 1996年 / 51卷 / 05期

关键词：

D O I：

10.1080/22953337.1996.11718526

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The authors report a case of unsuspected fetal storage disorder initially diagnosed by placental examination performed because of a transient ascites at 28 weeks of gestation. At birth mild dysmorphic features and gradual neurological deterioration were observed. Highly elevated alkaline phosphatase levels were repeatedly noticed. Deficiency of beta-galactosidase was documented confirming GM1 gangliosidosis. Previous reports described the placental pathology after positive prenatal diagnoses of lysosomal diseases. In the present case, the postnatal diagnosis was made in view of the placental pathologic findings. Our observation indicates the need for thorough investigations in hydrops fetalis, in search for metabolic diseases.

引用

页码：320 / 327

页数：8

共 34 条

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