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

## TL;DR

A rare case of neonatal brain hemorrhage caused by a genetic deficiency in PAI-1 is reported, highlighting the need for genetic testing in unexplained neonatal bleeding.

## Contribution

This case report presents a rare presentation of PAI-1 deficiency as a cause of perinatal intracranial hemorrhage.

## Key findings

- A neonate with unexplained intracranial hemorrhage was found to have a heterozygous SERPINE1 gene variant confirming PAI-1 deficiency.
- Management included anticonvulsants, mechanical ventilation, and tranexamic acid, but the neonate developed long-term motor deficits.
- The case underscores the importance of considering PAI-1 deficiency in neonates with unexplained hemorrhage.

## Abstract

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.