[Fetal ascites as a manifestation of infantile sialidosis. Significance of a study of oligosaccharides in amniotic fluid].
Non immune hydramnios and fetal ascite are demonstrated at 31 weeks gestation. There is no familial story. All etiologic investigations (repeated ultrasonographic examinations, amniocentesis) are negative. The delivered girl has a normal development. She presents a congenital ascite and edema. The diagnosis of sialidosis (mucolipidosis type I) is supported by the early finding of vacuolated lymphocytes, the excretion of oligosaccharides in the urine and, finally, the results of the study of alpha-D-neuraminidase fibroblasts and others lysosomal enzymes activities. Oligosaccharides and enzymic studies provide same results in amniotic fluid. Authors point the particular interest of amniotic fluid oligosaccharides study when the etiologic diagnosis of idiopathic fetal ascite or hydrops is to be done.
Guibaud
P
P
Cottin
X
X
Maire
I
I
Boyer
S
S
Guibaud
S
S
Coicaud
C
C
Bellon-Azzouzi
C
C
Duvernois
J P
JP
D000328:Adult; D000653:Amniotic Fluid / Q000032:analysis*; D001201:Ascites; D004487:Edema / Q000151:congenital; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009081:Mucolipidoses / Q000175:diagnosis*; D009844:Oligosaccharides / Q000032:analysis* / Q000652:urine; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography; D000509:alpha-Fetoproteins / Q000032:analysis
D009844:Oligosaccharides; D000509:alpha-Fetoproteins
Ascite foetale révélatrice d'une sialidose infantile. Intérêt de l'étude des oligosaccharides du liquide amniotique.