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Published on: June 2, 2022
[Infection-triggered familial or recurrent acute necrotizing encephalopathy]
E López-Laso1, M E Mateos-González, J L Pérez-Navero
1Servicio de Pediatría, Hospital Universitario Reina Sofía, Córdoba, España. elolaso@gmail.com
Abstract:
Acute necrotizing encephalopathy (ANE) presents in children after common viral infections. Most cases of ANE are non-familial and non-recurrent and have been mainly reported in Asian patients, although ANE affects children worldwide. Recently, missense mutations in the gene encoding the nuclear pore protein Ran Binding Protein 2 (RANBP2) have been found in several families with familial or recurrent cases of ANE. We describe a Spanish family with familial and recurrent ANE without mutations in RANBP2. Mutations in RANBP2 are not the sole susceptibility alleles for familial or recurrent ANE.
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