AUTHOR=Bersani Iliana , Ronci Sara , Savarese Immacolata , Piersigilli Fiammetta , Micalizzi Alessia , Maddaloni Chiara , Dotta Andrea , Braguglia Annabella , Longo Daniela , Campi Francesca 

TITLE=COL4A1 gene mutations and perinatal intracranial hemorrhage in neonates: case reports and literature review

JOURNAL=Frontiers in Pediatrics

VOLUME=12

YEAR=2024

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2024.1417873

DOI=10.3389/fped.2024.1417873

ISSN=2296-2360

ABSTRACT=<p>Intracranial hemorrhage may represent a complication of the perinatal period that affects neonatal morbidity and mortality. Very poor data exist about a possible association between mutations of the type IV collagen a1 chain (<italic>COL4A1</italic>) gene and the development of intracranial hemorrhage, and only sporadic reports focus on intracerebral bleedings already developing <italic>in utero</italic> or in the neonatal period in infants with such a mutation. This study presents a case series of term neonates affected by intracranial hemorrhage, with no apparent risk factors for the development of this condition, who were carriers of <italic>COL4A1</italic> gene variants. This study also provides a review of the most recent scientific literature on this topic, specifically focusing on the available scientific data dealing with the perinatal period.</p>