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

par Guillaume, Adrien ;Stejskal, Vojtech;Smits, Guillaume ;Kelen, Dorottya
Référence Frontiers in Pediatrics, 12, 1303772
Publication Publié, 2024-02

Article révisé par les pairs

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Résumé :

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.