Fig. 2: Examples of neonatal MRI findings in selected genetic disorders with initial prenatal presentation.
From: Neonatal neurocritical care considerations for prenatally identified neurological disorders
a Coronal T2-weighted MRI in newborn with TUBA1A variant showing pachygyria-lissencephaly spectrum, ventriculomegaly, and cerebellar hypoplasia. Prenatal presentation in this case with ventriculomegaly on 38-week ultrasound for growth. b Sagittal T2-weighted MRI in newborn with L1CAM variant showing very severe ventriculomegaly due to aqueductal stenosis. Initial prenatal presentation with mild ventriculomegaly on anatomy ultrasound at 21 gestational weeks and progressive ventriculomegaly on ultrasound throughout pregnancy. c Susceptibility-weighted MRI in newborn with COL4A1 variant and prenatal diagnosis of intraventricular hemorrhage and right posterior periventricular hemorrhagic infarction with ventriculomegaly. Initial diagnosis on fetal brain MRI obtained at 37 gestational weeks for ventriculomegaly on follow up growth ultrasound at 35 gestational weeks. d Axial T2-weighted MRI in newborn with PDHA1-related pyruvate dehydrogenase complex deficiency showing agenesis of the corpus callosum, ventriculomegaly, cystic cavitation of the white matter, and diffusely abnormal sulcation. Prenatal presentation with similar findings on ultrasound and fetal brain MRI at 32 gestational weeks.
