Literature DB >> 20498552

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

Andrea Righini1, Laura Fiori, Cecilia Parazzini, Chiara Doneda, Filippo Arrigoni, Enrica Riva, Fabio Triulzi.   

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.

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Year:  2010        PMID: 20498552     DOI: 10.1097/RCT.0b013e3181cd7c89

Source DB:  PubMed          Journal:  J Comput Assist Tomogr        ISSN: 0363-8715            Impact factor:   1.826


  2 in total

1.  Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1.

Authors:  J Nunes; S Loureiro; S Carvalho; R P Pais; C Alfaiate; A Faria; P Garcia; L Diogo
Journal:  Neuroradiol J       Date:  2013-05-10

2.  Striatal necrosis in type 1 glutaric aciduria: Different stages in two siblings.

Authors:  Anitha Sen; Rajesh Subramonia Pillay
Journal:  J Pediatr Neurosci       Date:  2011-07
  2 in total

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