Bilateral Symmetrical Brain MRI Findings in Acute Necrotising Encephalopathy Type 1

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Acute necrotising encephalopathy (ANE) is a rare, severe encephalopathy characterized by bilateral symmetrical brain lesions, often post-viral.
• ANE type 1 (ANE1) is a specific subtype associated with mutations in the RAN binding protein 2 (RANBP2) gene.

Observation:

• A 3-year-old girl presented with clinical symptoms and MRI findings suggestive of ANE1.
• Brain MRI revealed characteristic symmetrical T2/FLAIR hyperintensities and diffusion restriction in specific brain regions, including lateral geniculate bodies, claustrum, thalami, and brainstem.
• Susceptibility weighted imaging showed hemorrhagic changes in the lateral geniculate bodies.

Findings:

• Genetic analysis confirmed a heterozygous pathogenic variant in the RANBP2 gene, diagnosing ANE1.
• The patient received immunosuppressive and supportive treatment.

Implications:

• Prompt recognition of ANE1's distinctive MRI features aids in timely diagnosis and improved patient management.
• Understanding the genetic basis and characteristic imaging findings is crucial for families due to the high risk of recurrence.