A case report of neonatal PURA syndrome

Case presentation: G.D.V.S, a male neonate, was admitted into the neonatal intensive care unit due to respiratory insufficiency. On his sixth day of life, patient presented with series tonic movements and spasm in upper inferior limbs, followed by an approximate five-minute duration, apnea central cyanosis. He had term complication-free pregnancy. admission, could be noted global hypotonia, difficulties for nourishing, hyperreflexia, facies cleft palate micrognathia. later developed excessive hyper startle responsiveness, oculogyric crises persistent dyskinesia. Electroencephalography has no spikes. Cerebral magnetic resonance imaging visualizes diffuse cerebral volumetric reduction subdural hydroma. Genetic test shows deletion 152Kb, on heterozygous, pathogenic variation involving PURA gene. During hospitalization, positive response use benzodiazepines (midazolam) discharged after treatment several complications (infections, chyloperitoneum, panhypopituitarism), addition tracheostomy, gastrostomy continuous oxygen.