Expanding the Clinical Spectrum of De Novo 19p13.3 Microdeletion: A Case Report

Background Interstitial microdeletion 19p13.3 is a copy number variant defect characterized by neurodevelopmental disorders, dysmorphic features, and multiple congenital anomalies. Patients with this condition exhibit intellectual disability, attention deficit disorder, delayed language development, inappropriate behavior, hypotonia, scoliosis, and minor brain abnormalities. Methods and Findings: Here, we present the case of a young male patient with ideomotor dyspraxia, spatial discrimination deficits, and impaired fine motor skills. Neuroimaging revealed lateral ventricular dilatation, corpus callosum thinning, and left hippocampal dysplasia. The patient also experienced a unique focal seizure, and electroencephalographic recordings were highly suggestive of transient benign epilepsy with centro-temporal spikes. Conclusion: This patient’s findings have not been reported before. They contribute to a better understanding of the clinical features of this rare condition. Genes in the deleted terminal fragment of the short arm of chromosome 19 may contribute to structural and functional defects.