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

Pediatric Radiology
João P Soares-FernandesLara M Leijser

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.

References

Nov 15, 1996·Journal of Neuroscience Research·A YoshiokaD Pleasure
Jun 28, 2005·Seminars in Fetal & Neonatal Medicine·Mary A RutherfordChristine Malamatentiou
May 23, 2006·Mitochondrion·Marjolein WillemsenEva Morava

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Citations

Jun 1, 2011·Topics in Magnetic Resonance Imaging : TMRI·Denise Pugash
Feb 13, 2016·Journal of Neuropathology and Experimental Neurology·Nathalie PirotAnnie Laquerrière
Jul 5, 2011·Pediatric Neurology·Nicholas Ah MewAdeline Vanderver
Apr 12, 2011·Neuroimaging Clinics of North America·Katyucia Rodrigues, P Ellen Grant
Sep 16, 2008·European Journal of Radiology·Denise PugashDaniela Prayer
Nov 28, 2015·Neurochemical Research·Erica B SherryIn-Young Choi
May 9, 2012·Journal of Magnetic Resonance Imaging : JMRI·Andrea PorettiThierry A G M Huisman
Sep 23, 2011·Clinical Pediatrics·Lalitha Sivaswamy
Nov 2, 2019·Journal of Child Neurology·Emily ShelkowitzAustin Larson

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