Pediatric Radiology

, Volume 38, Issue 5, pp 559–562 | Cite as

Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings

  • João P. Soares-FernandesEmail author
  • Roseli Teixeira-Gomes
  • Romeu Cruz
  • Manuel Ribeiro
  • Zita Magalhães
  • Jaime F. Rocha
  • Lara M. Leijser
Case Report


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.


Pyruvate dehydrogenase deficiency Neonate MRI DWI 


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Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  • João P. Soares-Fernandes
    • 1
    Email author
  • Roseli Teixeira-Gomes
    • 2
  • Romeu Cruz
    • 3
  • Manuel Ribeiro
    • 1
  • Zita Magalhães
    • 1
  • Jaime F. Rocha
    • 1
  • Lara M. Leijser
    • 4
  1. 1.Department of NeuroradiologyHospital de S. MarcosBragaPortugal
  2. 2.Division of NeuropediatricsHospital Pedro HispanoMatosinhosPortugal
  3. 3.Department of NeuroradiologyHospital Geral de Sto. AntónioPortoPortugal
  4. 4.Department of Paediatrics, Division of NeonatologyLeiden University Medical CenterLeidenThe Netherlands

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