Beyond hypoxic–ischemic encephalopathy: genetic insights and precision diagnosis in neonatal encephalopathies

Frontiers in Medicine 2026 Open access

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Authors: Carla Cimino, Vincenzo Sortino, Annamaria Sapuppo, Marco Andrea Nicola Saporito, Federica Scarlata, Raffaele Falsaperla
DOI: 10.3389/fmed.2026.1868036
Cited by: 1
References: 35

Abstract

Neonatal encephalopathies are a heterogeneous group of early-onset neurological disorders. While hypoxic-ischemic encephalopathy (HIE) has long been considered the predominant cause, a growing number of genetic, metabolic, immune-mediated, and toxic etiologies may clinically mimic HIE, posing diagnostic challenges. Timely recognition of these alternative causes is essential to initiate targeted therapies and provide appropriate family counseling. This article reviews the main clinical presentations and pathogenetic mechanisms of neonatal encephalopathies and introduces a structured diagnostic algorithm, presented as a flow chart, to guide neonatologists in early differential diagnosis and precision management of affected newborns.

Fields of Study & Subjects

Neonatal and fetal brain pathology Metabolism and Genetic Disorders Fetal and Pediatric Neurological Disorders

Publication details

Journal / source
Frontiers in Medicine
Publisher
Frontiers Media SA
Volume
13
Pages
1868036–1868036
Publication date
15 June 2026
Language
EN