Lysosomal storage diseases presenting as transient or persistent hydrops fetalis.
Two cases of beta-glucuronidase deficiency (mucopolysaccharidosis VII), presented with fetal hydrops at 20 and 26 weeks of gestation. The enzyme deficiency was observed in cultured amniotic fluid cells and in fetal plasma from cord-blood and was confirmed after termination of pregnancy. A third case presented with transient ascites at 6.5 months of gestation. Mild dysmorphic features at birth and gradual neurological deterioration were observed. Deficiency of beta-galactosidase was documented confirming a GM1 gangliosidosis. Evidence has accumulated that fetuses affected by lysosomal diseases, may present with transient or persistent hydrops fetalis. The exact frequency is however not known. Further diagnostic studies in persistent or transient hydrops fetalis, looking for lysosomal and other metabolic diseases, whenever major causes of hydrops fetalis have been excluded, are therefore indicated. Amniocentesis and cordocentesis should always be performed.
Bonduelle
M
M
Department of Medical Genetics, University Hospital, Vrije Universiteit Brussels.
Lissens
W
W
Goossens
A
A
De Catte
L
L
Foulon
W
W
Denis
R
R
Jauniaux
E
E
Liebaers
I
I
D015193:Chorionic Villi Sampling / Q000379:methods; D005260:Female; D005315:Fetal Diseases / Q000235:genetics*; D016537:Gangliosidosis, GM1 / Q000175:diagnosis / Q000209:etiology*; D005966:Glucuronidase / Q000378:metabolism* / Q000494:pharmacology; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D016464:Lysosomal Storage Diseases / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D014965:X-Rays; D001616:beta-Galactosidase / Q000172:deficiency*
D001616:beta-Galactosidase; D005966:Glucuronidase