To review the clinical presentations and pathogenetic mechanisms of neonatal encephalopathies and introduce a structured diagnostic algorithm for early differential diagnosis and precision management.
Approach:
Key Findings:
Neonatal encephalopathies are heterogeneous and may mimic hypoxic-ischemic encephalopathy (HIE).
Genetic factors increasingly contribute to neonatal encephalopathies.
Next-generation sequencing (NGS) is a first-line diagnostic tool for identifying genetic causes.
Interpretation:
Limitations:
The review is limited to studies published within a specific timeframe (2012-2025).
The diagnostic algorithm may not encompass all potential causes of neonatal encephalopathy.
Conclusion:
The article discusses the need for a multidimensional diagnostic framework to improve the recognition and management of genetic neonatal encephalopathies.
