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

Autor: Cristina Forest, Michele Laudisi, Cristina Malaventura, Valeria Tugnoli, Giuditta Pellino, Elisabetta Marangoni, Eleonora Baldi, Luca Borgatti, Maura Pugliatti, Agnese Suppiej
Rok vydání: 2023
Předmět:
Zdroj: European Journal of Paediatric Neurology. 42:117-121
ISSN: 1090-3798
DOI: 10.1016/j.ejpn.2022.12.010
Popis: 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.
Databáze: OpenAIRE
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