AUTHOR=Guillaume Adrien , Stejskal Vojtech , Smits Guillaume , Kelen Dorottya 

TITLE=A novel homozygous variant in SLC25A46 gene associated with pontocerebellar hypoplasia type 1E: a case report

JOURNAL=Frontiers in Pediatrics

VOLUME=12

YEAR=2024

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2024.1303772

DOI=10.3389/fped.2024.1303772

ISSN=2296-2360

ABSTRACT=<p>Neonatal encephalopathy (NE) is a complex clinical condition with diverse etiologies. Hypoxic-ischemic encephalopathy (HIE) is a major contributor to NE cases. However, distinguishing NE subtypes, such as pontocerebellar hypoplasia type 1E (PCH1E), from HIE can be challenging due to overlapping clinical features. Here, we present a case of PCH1E in a neonate with a homozygous mutation c.72delT p. (Phe24LeufsTer20) in the <italic>SLC25A46</italic> gene. The severity of PCH1E associated NE highlighted the significance of early recognition to guide appropriate clinical management.</p>