Imaging Findings in a Child with RNU4-2 (ReNU) Syndrome: A Paediatric Neuroradiology Case Report

Background RNU4-2–related neurodevelopmental disorder (ReNU syndrome) is an emerging genetic condition associated with global developmental delay and seizures. Neuroimaging findings are increasingly recognized but remain incompletely characterized. Case Presentation: We describe a 3½-year-old child presenting with seizure and a history developmental delay whose MRI demonstrated polymicrogyria, ventriculomegaly and dysgenesis of the corpus callosum. These findings, in conjunction with clinical and genetic assessment, supported the diagnosis of RNU4-2 syndrome. Conclusion This case highlights characteristic and potentially distinctive neuroimaging features of RNU4-2 syndrome, expanding the radiologic phenotype and potentially aiding early recognition in paediatric patients with seizures and developmental delay.