Ultrasound assessment in a case of sialic acid storage disease

Ultrasound Obstet Gynecol. 2001 Sep;18(3):272-4. doi: 10.1046/j.0960-7692.2001.00515.x.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging*
  • Abnormalities, Multiple / etiology
  • Ascites / diagnostic imaging
  • Female
  • Fetal Diseases / diagnostic imaging
  • Humans
  • Lysosomal Storage Diseases / complications
  • Lysosomal Storage Diseases / diagnostic imaging*
  • N-Acetylneuraminic Acid / metabolism*
  • Pregnancy
  • Ultrasonography, Prenatal*


  • N-Acetylneuraminic Acid