Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency

Area of Science:

• Neuroscience
• Genetics
• Metabolic Disorders

Background:

• Pyruvate dehydrogenase complex deficiency (PDCD) is a genetic mitochondrial metabolism disorder.
• Neonatal brain imaging in PDCD is documented, but fetal MRI findings are less understood.
• PDCD is caused by pathogenic variants in genes like PDHA1.

Purpose of the Study:

• To characterize fetal brain MRI findings in PDCD.
• To identify potential prenatal diagnostic markers for PDCD.
• To correlate imaging findings with genetic testing results.

Main Methods:

• Retrospective review of 10 fetuses diagnosed with PDCD and prior fetal MRI.
• Analysis of fetal and neonatal imaging, medical records, and genetic testing data.
• Neuroradiologist review of MRI scans for consistent findings.

Main Results:

• Common findings included corpus callosum dysgenesis (8/10), abnormal gyration (6/10), reduced brain volumes (10/10), and cystic lesions (9/10).
• Second-trimester MRIs revealed ganglionic eminence (GE) cysts in 6 fetuses, absent in third-trimester scans.
• Other findings included intraventricular hemorrhages and midbrain malformations.

Conclusions:

• Fetal MRI findings in PDCD resemble neonatal findings but can be subtle early in gestation.
• GE cysts in the second trimester may serve as an early diagnostic marker for PDCD.
• Early prenatal diagnosis via fetal MRI can guide genetic counseling and care planning.