Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency

Medicine, Pediatrics, Obstetrics and Gynecology, Neurology, Medical Imaging,
Pyruvate Dehydrogenase   Complex Deficiency   Fetal MRI   Brain Abnormalities   Genetic Disorder   Second Trimester Diagnosis  

Abnormalities in Fetal Brain MRI in Pyruvate Dehydrogenase Complex Deficiency Background and Research Objective Pyruvate Dehydrogenase Complex Deficiency (PDCD) is a mitochondrial metabolic disorder caused by pathogenic variants in multiple genes, including PDHA1. Classic neonatal brain imaging features have been described, mainly focusing on devel...