What question did this study set out to answer?

To document the serial imaging changes of ganglionic eminence anomalies in a case of PDHA1-related pyruvate dehydrogenase complex deficiency.

March 2, 2026

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

Key Points

To document the serial imaging changes of ganglionic eminence anomalies in a case of PDHA1-related pyruvate dehydrogenase complex deficiency.
Conducted serial sonographic evaluations from 12 to 28 weeks of gestation.
Performed MRI to assess additional brain anomalies.
Identified a pathogenic PDHA1 variant for molecular diagnosis.
Ultrasound showed bilateral anterior hypoechoic foci at 12 weeks.
Solid-cystic GE cavitations were noted at 22 weeks.
Periventricular germinolysis-type pseudocysts appeared by 28 weeks.
MRI confirmed additional anomalies: callosal dysgenesis and cerebellar hypoplasia.

Abstract

This report documents the first serial sonographic progression of ganglionic eminence (GE) anomalies in pyruvate dehydrogenase complex deficiency (PDCD) from 12 to 28 weeks. Ultrasound revealed bilateral anterior hypoechoic foci (12 weeks), progressing to solid-cystic GE cavitations (22 weeks) and periventricular germinolysis-type pseudocysts (28 weeks). MRI confirmed concurrent callosal dysgenesis and cerebellar hypoplasia. A pathogenic PDHA1 variant (c.581A>G, p.Y194C) provided definitive molecular diagnosis after exclusion of common etiologies. This continuum serves as an early PDCD imaging indicator, guiding prenatal diagnosis of this lethal disorder.

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

Key Points

Abstract

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