Hyperphosphatasemia In early Diagnosed Infantile Gm1 Gangliosidosis Presenting As Transient Hydrops Fetalis.
作者:
DenisR.,
WayenbergJ.L.,
VermeulenM.,
GorusF.,
GerloE.,
LissensW.,
LiebaersL.,
JauniauxE.,
VamosE.,
期刊:
Acta Clinica Belgica
(Taylor Available online 1996)
卷期:
Volume 51,
issue 5
页码: 320-327
ISSN:1784-3286
年代: 1996
DOI:10.1080/22953337.1996.11718526
出版商: Taylor&Francis
数据来源: Taylor
摘要:
SummaryThe 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 ofβ-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.
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