Acute necrotizing encephalopathy: an underrecognized clinicoradiologic disorder

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Acute necrotizing encephalopathy (ANE) is a rare, severe neurological disorder with global incidence.
• Often triggered by viral infections, ANE presents with rapid clinical deterioration.
• The precise mechanisms linking viral triggers to ANE pathogenesis remain incompletely understood.

Purpose of the Study:

• To review current knowledge on acute necrotizing encephalopathy.
• To emphasize prompt diagnosis and improved therapeutic approaches for ANE.
• To discuss the genetic underpinnings and clinical manifestations of ANE.

Main Methods:

• Literature review of ANE cases and research.
• Analysis of clinical presentations and neuroradiological findings.
• Investigation of genetic factors, including RANBP2 mutations.

Main Results:

• ANE is characterized by multifocal symmetric brain lesions on CT/MRI.
• Familial and recurrent ANE cases show incomplete autosomal-dominant inheritance.
• Missense mutations in the RANBP2 gene are identified in familial ANE.

Conclusions:

• ANE diagnosis relies on characteristic neuroimaging findings.
• Genetic factors, particularly RANBP2 mutations, play a role in familial ANE.
• Further research is crucial for developing effective ANE treatments.