Pediatric recurrent acute necrotizing encephalomyelitis, RANBP2 genotype and Sars-CoV-2 infection: Diagnosis, pathogenesis and targeted treatments from a case study

Acute necrotizing encephalopathy (ANE) is a rare disease not yet described in children with Covid-19. RANBP2 gene variations are implicated in recurrences in the genetic form of ANE, the so called ANE1. We report the first case of pediatric ANE1 following Sars-CoV-2 infection. She had a first episod...

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Bibliographic Details
Published in:European journal of paediatric neurology 2023-01, Vol.42, p.117-121
Main Authors: Forest, Cristina, Laudisi, Michele, Malaventura, Cristina, Tugnoli, Valeria, Pellino, Giuditta, Marangoni, Elisabetta, Baldi, Eleonora, Borgatti, Luca, Pugliatti, Maura, Suppiej, Agnese
Format: Article
Language:English
Subjects:
ANE1
Brain Diseases
Child
COVID-19
COVID-19 Testing
Encephalomyelitis
Female
Genotype
Humans
Leukoencephalitis, Acute Hemorrhagic - etiology
Leukoencephalitis, Acute Hemorrhagic - genetics
Mitochondrial homeostasis
Pediatric
RANBP2
SARS-CoV-2
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Summary:Acute necrotizing encephalopathy (ANE) is a rare disease not yet described in children with Covid-19. RANBP2 gene variations are implicated in recurrences in the genetic form of ANE, the so called ANE1. We report the first case of pediatric ANE1 following Sars-CoV-2 infection. She had a first episode at 2 years of age following influenza type A with full recovery, many other respiratory and non-respiratory febrile viral infections without recurrences and a severe recurrence following Sars-CoV-2 infection, suggesting a potentiation effect on cytokine cascade. Her MRI showed the typical pattern of injury resembling that of mitochondrial disorders, and supported the role of RANBP2 in mitochondrial homeostasis. This case rises attention on diagnostic challenges and offers several interesting tips for discussion about new perspectives in pathogenesis and targeted treatments. •Acute necrotizing encephalomyelitis can complicate Covid 19.•Genetic tests are recommended in recurrent ANE for prognostic and therapeutic implications.•RANBP2 genotype should be looked for in recurrent in acute necrotizing encephalomyelitis.
ISSN:1090-3798
1532-2130
DOI:10.1016/j.ejpn.2022.12.010