title: Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings.
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.
authors.affiliation: Department of Neuroradiology, Hospital de S Marcos, Largo Engenheiro Carlos Amarante, Braga 4710-965, Portugal. joaosfernandes@gmail.com
authors.forename: João P
authors.initials: JP
authors.lastname: Soares-Fernandes
authors.forename: Roseli
authors.initials: R
authors.lastname: Teixeira-Gomes
authors.forename: Romeu
authors.initials: R
authors.lastname: Cruz
authors.forename: Manuel
authors.initials: M
authors.lastname: Ribeiro
authors.forename: Zita
authors.initials: Z
authors.lastname: Magalhães
authors.forename: Jaime F
authors.initials: JF
authors.lastname: Rocha
authors.forename: Lara M
authors.initials: LM
authors.lastname: Leijser
mesh_terms: D001921:Brain / Q000002:abnormalities / Q000473:pathology; D003937:Diagnosis, Differential; D038524:Diffusion Magnetic Resonance Imaging / Q000379:methods; D006801:Humans; D007231:Infant, Newborn; D019344:Lactic Acid / Q000097:blood; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D009030:Mosaicism; D009154:Mutation / Q000235:genetics*; D009421:Nervous System Malformations / Q000175:diagnosis / Q000235:genetics; D030481:Pyruvate Dehydrogenase (Lipoamide) / Q000235:genetics*; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000175:diagnosis* / Q000235:genetics*; D019289:Pyruvic Acid / Q000097:blood
chemical_list: D011768:Pyruvate Dehydrogenase Complex; D019344:Lactic Acid; D019289:Pyruvic Acid; D030481:Pyruvate Dehydrogenase (Lipoamide); C065640:pyruvate dehydrogenase E1alpha subunit