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Ultrasound assessment in a case of sialic acid storage disease

L Carbillon1, C Largillière, M Bucourt

  • 1Department of Obstetrics and Gynecology, Assistance Publique-Hôpitaux de Paris, Hôpital Jean Verdier, Bondy, France. lionel.carbillon@jvr.ap-hop-paris.fr

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
|September 14, 2001
PubMed

A woman was referred to our unit at 25 weeks' gestation because of fetal ascites. Conventional and three-dimensional ultrasound examinations revealed coarse facies and micromelia which strongly suggested storage disease, despite the absence of an index familial case. Amniocentesis was performed and, in view of the poor prognosis, the pregnancy was terminated. Autopsy confirmed all the sonographic features and the cultured amniocytes confirmed the diagnosis of infantile sialic acid storage disease.

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