Premium
A case of pyruvate dehydrogenase E1α subunit deficiency with antenatal brain dysgenesis demonstrated by prenatal sonography and magnetic resonance imaging
Author(s) -
Tamaru Shunsuke,
Kikuchi Akihiko,
Takagi Kimiyo,
Okuno Jiu,
Ishikawa Kaori,
Imada Shinya,
Horikoshi Tsuguhiro,
Goto Yuichi,
Hirabayashi Shinichi
Publication year - 2012
Publication title -
journal of clinical ultrasound
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.272
H-Index - 61
eISSN - 1097-0096
pISSN - 0091-2751
DOI - 10.1002/jcu.20864
Subject(s) - medicine , dysgenesis , pyruvate dehydrogenase complex , magnetic resonance imaging , central nervous system , prenatal diagnosis , prenatal ultrasound , fetus , pregnancy , endocrinology , radiology , anatomy , nuclear magnetic resonance , enzyme , genetics , biology , physics
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. © 2011 Wiley Periodicals,Inc. J Clin Ultrasound, 2011