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Ultrasound assessment in a case of sialic acid storage disease
Author(s) -
Carbillon L.,
Largillière C.,
Bucourt M.,
ScheuerNiro B.,
Levaillant J. M.,
Uzan M.
Publication year - 2001
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.0960-7692.2001.00515.x
Subject(s) - medicine , amniocentesis , sialic acid , ultrasound , autopsy , gestation , fetus , ascites , pregnancy , obstetrics , disease , radiology , pathology , prenatal diagnosis , gastroenterology , biochemistry , genetics , chemistry , biology
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. Copyright © 2001 International Society of Ultrasound in Obstetrics and Gynecology