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 gene. The severity of PCH1E associated NE highlighted the significance of early recognition to guide appropriate clinical management.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10920260 | PMC |
| http://dx.doi.org/10.3389/fped.2024.1303772 | DOI Listing |
Publication Analysis
Top Keywords
pontocerebellar hypoplasia
8
hypoplasia type
8
novel homozygous
4
homozygous variant
4
variant gene
4
gene associated
4
associated pontocerebellar
4
type case
4
case report
4
report neonatal
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!