[Primary neuraminidase deficiency with prenatal disclosure].
The authors report a case of infantile sialidosis with hydrops fetalis and heart failure. At birth the baby presented a dysmorphic syndrome with histological anomalies. A storage disease with deficiency of neuraminidase activity, sialidosis type II, was confirmed. Amniocentesis with sialic-acid dosage or thin-layed chromatography seems necessary in hydrops fetalis with heart failure of unknown origin.
Tabardel
Y
Y
Service de Pédiatrie, Université de Liège, CHU du Sart Tilman, Belgique.
Soyeur
D
D
Vivario
E
E
Senterre
J
J
D005260:Female; D006333:Heart Failure / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D015160:Hydrops Fetalis / Q000150:complications* / Q000175:diagnosis; D007231:Infant, Newborn; D009439:Neuraminidase / Q000172:deficiency*; D011296:Prenatal Diagnosis; D012794:Sialic Acids / Q000378:metabolism; D014463:Ultrasonography
D012794:Sialic Acids; D009439:Neuraminidase
Déficit primitif en neuraminidase à révélation anté-natale.