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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.
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.
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