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

## TL;DR

This case report describes a rare genetic mutation in a neonate linked to a specific brain development disorder, emphasizing the need for early diagnosis.

## Contribution

A novel homozygous variant in the SLC25A46 gene is reported in a case of pontocerebellar hypoplasia type 1E.

## Key findings

- A neonate presented with a homozygous c.72delT mutation in the SLC25A46 gene.
- The case highlights the importance of distinguishing PCH1E from hypoxic-ischemic encephalopathy for proper management.

## 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.