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Related Experiment Video

Updated: May 11, 2026

Non-invasive Optical Measurement of Cerebral Metabolism and Hemodynamics in Infants

Non-invasive Optical Measurement of Cerebral Metabolism and Hemodynamics in Infants

Published on: March 14, 2013

Characteristic Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.

Olivier Fortin¹, Kelsey Christoffel^1,2, Abdullah Shoaib^3,4

¹Zickler Family Prenatal Pediatrics Institute, Children's National Hospital, Washington, District of Columbia, USA, 20010.

Medrxiv : the Preprint Server for Health Sciences

|April 22, 2024

Summary

This summary is machine-generated.

Pyruvate dehydrogenase complex deficiency (PDCD) shows specific prenatal brain MRI findings. Early second-trimester cystic changes in ganglionic eminences may be a novel diagnostic marker for this metabolic disorder.

Keywords:

Fetal imaging Fetal neurogenetics Metabolic disorders Mitochondrial disorders Prenatal genetic testing

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Area of Science:

Neuroimaging
Genetics
Mitochondrial Metabolism

Background:

Pyruvate dehydrogenase complex deficiency (PDCD) is a genetic mitochondrial metabolism disorder.
Neonatal brain imaging in PDCD is documented, but prenatal MRI findings are less understood.
This study aims to describe prenatal neurological and systemic manifestations of PDCD using fetal imaging and genomic data.

Approach:

Retrospective review of medical records, fetal MRI data, and genetic testing results.
Inclusion of all fetuses diagnosed with genetic PDCD who underwent fetal MRI.
Descriptive reporting of imaging and clinical findings.

Key Points:

Most PDCD fetuses exhibited corpus callosum dysgenesis, abnormal gyration, reduced brain volumes, and periventricular cystic lesions.
Second-trimester fetuses showed enlarged ganglionic eminences with cystic changes; third-trimester fetuses had germinolytic cysts.
One case presented with intraventricular hemorrhages, and another with midbrain malformation and hydrocephalus.

Conclusions:

Fetal MRI findings in PDCD resemble neonatal findings but can be subtle early in gestation.
Cystic changes in ganglionic eminences during the second trimester may serve as a novel early diagnostic marker for PDCD.
Prenatal MRI identification of PDCD hallmarks can guide genetic counseling, pregnancy decisions, and neonatal care.