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Acute Necrotizing Encephalopathy: 2 Case Reports on RANBP2 Mutation
Molly Hartley1, Anjana Sinha1, Ashutosh Kumar2
1Penn State College of Medicine, Hershey, PA, USA.
Infection-induced acute encephalopathy 3 (IIAE3) is linked to RANBP2 gene variants. A novel p.Leu450Phe variant suggests a probable cause for recurrent acute necrotizing encephalopathy (ANE1) in children.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Infection-induced acute encephalopathy 3 (IIAE3) is an autosomal dominant disorder.
- It is caused by pathogenic variants in the RANBP2 gene.
- IIAE3 confers susceptibility to recurrent acute necrotizing encephalopathy (ANE1).
Observation:
- This study presents a retrospective analysis of 2 ANE1 cases.
- Clinical data and radiographic studies were examined.
- A novel p.Leu450Phe variant in the RANBP2 gene was identified.
Findings:
- In silico analysis (PolyPhen-2, SIFT, Mutationtaster) suggests the p.Leu450Phe variant is likely deleterious.
- The identified variant may contribute to the pathogenesis of ANE1.
Implications:
- Expanding the understanding of ANE1 presentations and RANBP2 mutations is crucial.
- Informed therapeutic decisions can potentially improve long-term outcomes for patients.
- Further research into RANBP2 variants and ANE1 is warranted.
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