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

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.

SUBMITTER: Guillaume A

PROVIDER: S-EPMC10920260 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature

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

Guillaume Adrien A Stejskal Vojtech V Smits Guillaume G Kelen Dorottya D

Frontiers in pediatrics 20240223

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 s ...[more]

PMID: 38464896

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