A novel homozygous variant in SLC25A46 gene associated with pontocerebellar hypoplasia type 1E: a case report.
Front Pediatr
; 12: 1303772, 2024.
Article
en En
| MEDLINE
| ID: mdl-38464896
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.
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1
Colección:
01-internacional
Banco de datos:
MEDLINE
Idioma:
En
Revista:
Front Pediatr
Año:
2024
Tipo del documento:
Article
País de afiliación:
Bélgica