Please use this identifier to cite or link to this item:
Title: Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings
Author: Soares-Fernandes, JP
Teixeira-Gomes, R
Cruz, R
Ribeiro, M
Magalhães, Z
Rocha, JF
Leijser, LM
Keywords: Piruvato Desidrogenase
Ressonância Magnética
Issue Date: 2008
Publisher: Springer
Citation: Pediatr Radiol. 2008;38(5):559-62
Abstract: Pyruvate dehydrogenase (PDH) deficiency is one of the most common causes of congenital lactic acidosis. Correlations between the genetic defect and neuroimaging findings are lacking. We present conventional and diffusion-weighted MRI findings in a 7-day-old male neonate with PDH deficiency due to a mosaicism for the R302H mutation in the PDHA1 gene. Corpus callosum dysgenesis, widespread increased diffusion in the white matter, and bilateral subependymal cysts were the main features. Although confirmation of PDH deficiency depends on specialized biochemical analyses, neonatal MRI plays a role in evaluating the pattern and extent of brain damage, and potentially in early diagnosis and clinical decision making.
Peer review: yes
Appears in Collections:HB - NRAD - Artigos

Files in This Item:
File Description SizeFormat 
Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene.pdf193,43 kBAdobe PDFView/Open

FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpace
Formato BibTex MendeleyEndnote Degois 

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.