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

Adrien Guillaume; Vojtech Stejskal; Guillaume Smits; Dorottya Kelen

doi:10.3389/fped.2024.1303772

Frontiers in Pediatrics (Feb 2024)

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

Adrien Guillaume,
Vojtech Stejskal,
Guillaume Smits,
Dorottya Kelen

Affiliations

Adrien Guillaume: Neonatal Intensive Care Unit, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles (ULB), Brussels, Belgium
Vojtech Stejskal
Guillaume Smits: Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles (ULB), Brussels, Belgium
Dorottya Kelen: Neonatal Intensive Care Unit, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles (ULB), Brussels, Belgium

DOI: https://doi.org/10.3389/fped.2024.1303772
Journal volume & issue: Vol. 12

Abstract

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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 SLC25A46 gene. The severity of PCH1E associated NE highlighted the significance of early recognition to guide appropriate clinical management.

Published in Frontiers in Pediatrics

ISSN: 2296-2360 (Online)
Publisher: Frontiers Media S.A.
Country of publisher: Switzerland
LCC subjects: Medicine: Pediatrics
Website: http://journal.frontiersin.org/journal/pediatrics

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