Early prenatal magnetic resonance imaging of glutaric aciduria type 1: case report

J Comput Assist Tomogr. 2010 May-Jun;34(3):446-8. doi: 10.1097/RCT.0b013e3181cd7c89.

Abstract

We report on a 22-week-gestation fetus, in which prenatal magnetic resonance (MR) imaging revealed findings suggestive of glutaric aciduria type 1, which was confirmed by postnatal biochemical and imaging data. Well-known postnatal MR imaging characteristics of glutaric aciduria type 1 (eg, reduction of the anterior pole of temporal lobes) could be already present at early stage of fetal brain development. Early prenatal MR imaging may play a pivotal role in the diagnostic workout of this condition.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Humans
  • Infant, Newborn
  • Magnetic Resonance Imaging*
  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency / diagnosis*
  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency / embryology*
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Young Adult