Malformations of cortical development (MCD) are a rare group of disorders with heterogeneous clinical, neuroimaging, and genetic features. MCDs consist of disruptions in the development of the cerebral cortex secondary to genetic, metabolic, infectious or vascular etiologies. MCDs are typically classified by stage of disrupted cortical development as secondary abnormal: (1) neuronal proliferation or apoptosis, (2) neuronal migration, or (3) postmigrational cortical development. MCDs are typically detected with brain magnetic resonance imaging (MRI) when an infant or child becomes symptomatic, presenting with seizures, developmental delay, or cerebral palsy. With recent advances in neuroimaging, cortical malformations can be detected using ultrasound or MRI during the fetal period, or in the neonatal period. Interestingly, preterm infants are born at a time when many cortical developmental processes are still occurring. However, there is a paucity of literature describing the neonatal imaging findings, clinical presentation, and evolution over time of cortical malformations in preterm infants. Here, we present the neuroimaging findings from early life to term-equivalent age as well as childhood neurodevelopmental outcomes of an infant born very preterm (<32 weeks' post-menstrual age) with MCD detected incidentally on neonatal research brain MRI. These brain MRIs were performed as part of a prospective longitudinal cohort study of 160 very preterm infants; MCDs were detected incidentally in two infants.
© 2023 American Academy of Neurology.