title: MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency.
abstract: Pyruvate dehydrogenase complex is a key intramitochondrial multienzyme complex required for the conversion of pyruvate to acetyl-CoA. Most patients with pyruvate dehydrogenase deficiency have a defect in the E1 alpha subunit, associated with mutations in the PDHA1 gene. In this report, we submit detailed magnetic resonance images in 4 affected female patients with PDHA1 mutations who had with severe cortical atrophy, dilated ventricles, and an incomplete corpus callosum. In one of these patients, the magnetic resonance imaging pattern prompted molecular diagnostic testing when enzymatic testing was normal. We underscore that this constellation of features, which may be misdiagnosed as periventricular leukomalacia, illustrates a pattern highly suggestive of a deficiency of pyruvate dehydrogenase E1 alpha in female patients and should trigger appropriate diagnostic investigations.
authors: Division of Genetics and Metabolism, Children's National Medical Center, Washington, DC 20010, USA.
authors: Nicholas
authors: N
authors: Ah Mew
authors: Johanna B
authors: JB
authors: Loewenstein
authors: Nadja
authors: N
authors: Kadom
authors: Uta
authors: U
authors: Lichter-Konecki
authors: Andrea L
authors: AL
authors: Gropman
authors: Jodie M
authors: JM
authors: Martin
authors: Adeline
authors: A
authors: Vanderver
mesh_terms: D001921:Brain / Q000473:pathology*; D003337:Corpus Callosum / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods*; D030481:Pyruvate Dehydrogenase (Lipoamide) / Q000172:deficiency* / Q000378:metabolism; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000150:complications / Q000175:diagnosis*
chemical_list: D030481:Pyruvate Dehydrogenase (Lipoamide); C065640:pyruvate dehydrogenase E1alpha subunit