RANBP2 Mutation Mimicking Viral Encephalitis

Neuropediatrics 2022; 53(04): 301-302
DOI: 10.1055/a-1816-8605

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¹Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany

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Dirk Klee

²Department of Pediatric Radiology, Medical Faculty, Institute of Radiology, Heinrich-Heine-University, Düsseldorf, Germany

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Dagmar Wieczorek

³Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany

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Tobias B. Haack

⁴Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany

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¹Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany

References
1 Neilson DE, Adams MD, Orr CM. et al. Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. Am J Hum Genet 2009; 84 (01) 44-51
2 Levine JM, Ahsan N, Ho E, Santoro JD. Genetic acute necrotizing encephalopathy associated with RANBP2: clinical and therapeutic implications in pediatrics. Mult Scler Relat Disord 2020; 43: 102194
3 Singh RR, Sedani S, Lim M, Wassmer E, Absoud M. RANBP2 mutation and acute necrotizing encephalopathy: 2 cases and a literature review of the expanding clinico-radiological phenotype. Eur J Paediatr Neurol 2015; 19 (02) 106-113