title: A case of pyruvate dehydrogenase E1α subunit deficiency with antenatal brain dysgenesis demonstrated by prenatal sonography and magnetic resonance imaging.
abstract: Prenatal depiction of brain dysgenesis in patients with pyruvate dehydrogenase complex (PDHc) deficiencies has been infrequently reported. As PDHc plays a critical role in the brain that obtains all of the energy from the aerobic oxidation of glucose, its deficiency is a severe inborn disorder of metabolism, which predominantly affects the nervous system. This report describes a case of PDHc deficiency with antenatal brain dysgenesis depicted in detail by fetal ultrasound and magnetic resonance imaging. This is the first case report clearly demonstrating the developing mechanism and time course of antenatal brain lesions in a patient with PDHc deficiency.
authors.affiliation: Department of Obstetrics, Center for Perinatal Medicine, Nagano Children's Hospital, Nagano, Japan.
authors.forename: Shunsuke
authors.initials: S
authors.lastname: Tamaru
authors.forename: Akihiko
authors.initials: A
authors.lastname: Kikuchi
authors.forename: Kimiyo
authors.initials: K
authors.lastname: Takagi
authors.forename: Jiu
authors.initials: J
authors.lastname: Okuno
authors.forename: Kaori
authors.initials: K
authors.lastname: Ishikawa
authors.forename: Shinya
authors.initials: S
authors.lastname: Imada
authors.forename: Tsuguhiro
authors.initials: T
authors.lastname: Horikoshi
authors.forename: Yu-ichi
authors.initials: Y
authors.lastname: Goto
authors.forename: Shinichi
authors.initials: S
authors.lastname: Hirabayashi
mesh_terms: D000328:Adult; D001921:Brain / Q000002:abnormalities*; D004453:Echoencephalography; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007888:Leigh Disease / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D011247:Pregnancy; D030481:Pyruvate Dehydrogenase (Lipoamide) / Q000172:deficiency*; D016216:Ultrasonography, Prenatal
chemical_list: D030481:Pyruvate Dehydrogenase (Lipoamide); C065640:pyruvate dehydrogenase E1alpha subunit