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

Cristina Forest; Michele Laudisi; Cristina Malaventura; Valeria Tugnoli; Giuditta Pellino; Elisabetta Marangoni; Eleonora Baldi; Luca Borgatti; Maura Pugliatti; Agnese Suppiej

doi:10.1016/j.ejpn.2022.12.010

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

Eur J Paediatr Neurol. 2023 Jan:42:117-121. doi: 10.1016/j.ejpn.2022.12.010. Epub 2023 Jan 4.

Affiliations

¹ Department of Medical Sciences-Pediatric Section, University of Ferrara, Ferrara, Italy.
² Department of Neuroscience and Rehabilitation, University of Ferrara, Italy.
³ S. Anna University Hospital, Department of Neuroscience and Rehabilitation, Ferrara, Italy.
⁴ Department of Anesthesia and Intensive Care, University of Ferrara, Ferrara, Italy.
⁵ Pediatric Neuroradiology, S. Anna University Hospital, Ferrara, Italy.
⁶ Department of Neuroscience and Rehabilitation, University of Ferrara, Italy; S. Anna University Hospital, Department of Neuroscience and Rehabilitation, Ferrara, Italy.
⁷ Department of Medical Sciences-Pediatric Section, University of Ferrara, Ferrara, Italy. Electronic address: sppgns@unife.it.

PMID: 36621064
DOI: 10.1016/j.ejpn.2022.12.010

Abstract

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.

Keywords: ANE1; Mitochondrial homeostasis; Pediatric; RANBP2; Sars-CoV-2.

Publication types

Case Reports

MeSH terms

Brain Diseases*
COVID-19 Testing
COVID-19*
Child
Encephalomyelitis*
Female
Genotype
Humans
Leukoencephalitis, Acute Hemorrhagic* / etiology
Leukoencephalitis, Acute Hemorrhagic* / genetics
SARS-CoV-2

Substances

ran-binding protein 2