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

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

Front Pediatr. 2024 Feb 23:12:1303772. doi: 10.3389/fped.2024.1303772. eCollection 2024.

Authors

Adrien Guillaume¹, Vojtech Stejskal^{1

2}, Guillaume Smits², Dorottya Kelen¹

Affiliations

¹ Neonatal Intensive Care Unit, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles (ULB), Brussels, Belgium.
² Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles (ULB), Brussels, Belgium.

Abstract

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.

Keywords: SLC25A46; clinical diagnosis; neonatal encephalopathy; pontocerebellar hypoplasia type 1E; therapeutic strategies.

Publication types

Case Reports

Grants and funding

The author(s) declare that no financial support was received for the research, authorship, and/or publication of this article.