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Updated: May 5, 2026

High-resolution Structural Magnetic Resonance Imaging of the Human Subcortex In Vivo and Postmortem
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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.

Journal of Clinical Ultrasound : JCU
|February 27, 2026
PubMed

Insights

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.

Area of Science:

  • Neuroimaging
  • Prenatal Diagnosis
  • Genetic Disorders

Background:

  • Pyruvate dehydrogenase complex deficiency (PDCD) is a severe metabolic disorder.
  • Early prenatal diagnosis of PDCD is crucial for management and counseling.
  • Characteristic brain anomalies in PDCD are often diagnosed later in gestation.

Keywords:
PDHA1 variantcallosal dysgenesiscerebellar hypoplasiaganglionic eminence cavitationspyruvate dehydrogenase complex deficiency

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