Serial Prenatal Imaging of Ganglionic Eminence Evolution: A PDHA1-Variant Case Demonstrating Metabolic Brain Injury

Tian Tian1,2, Huizhu Chen2,3, Hong Luo1,2

  • 1Department of Ultrasound, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.

PubMed
Summary

Serial ultrasounds reveal early brain abnormalities in pyruvate dehydrogenase complex deficiency (PDCD). These ganglionic eminence (GE) changes can guide prenatal diagnosis of this lethal genetic disorder.

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