Perinatal Intracranial Hemorrhage as a Rare Presentation of Plasminogen Activator Inhibitor-1 (PAI-1) Deficiency: A...

Perinatal stroke is a major cause of neonatal neurological impairment, but spontaneous intracranial hemorrhage due to plasminogen activator inhibitor-1 (PAI-1) deficiency is rare. We report a 28-day-old term female neonate who presented with seizures, irritability, and altered sensorium, later diagnosed with severe intraventricular and intracerebral hemorrhage (ICH). Extensive investigations ruled out common etiologies, leading to genetic testing that identified a heterozygous SERPINE1 gene variant, confirming PAI-1 deficiency. Management included mechanical ventilation, external ventricular drainage, anticonvulsants, and tranexamic acid. Despite intensive care, the neonate developed cystic encephalomalacia and motor deficits. This case emphasizes on the importance of considering PAI-1 deficiency in unexplained neonatal hemorrhage. Genetic diagnosis and antifibrinolytic therapy may improve outcomes, though long-term neurodevelopmental impairment remains a concern. Multidisciplinary rehabilitation, parental counseling, and structured follow-up are crucial, and further research is needed to define optimal management strategies.