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A case of pyruvate dehydrogenase E1α subunit deficiency with antenatal brain dysgenesis demonstrated by prenatal sonography and magnetic resonance imaging

2011; Wiley; Volume: 40; Issue: 4 Linguagem: Inglês

10.1002/jcu.20864

1097-0096

Shunsuke Tamaru, Akihiko Kikuchi, Kimiyo Takagi, Jiu Okuno, Kaori Ishikawa, Shinya Imada, Tsuguhiro Horikoshi, Yu‐ichi Goto, Shinichi Hirabayashi,

Diet and metabolism studies

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. © 2011 Wiley Periodicals,Inc. J Clin Ultrasound, 2011