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

被引：11

作者：

Forest, Cristina ^{[1
]}

Laudisi, Michele ^{[2
]}

Malaventura, Cristina ^{[1
]}

Tugnoli, Valeria ^{[3
]}

Pellino, Giuditta ^{[1
]}

Marangoni, Elisabetta ^{[4
]}

Baldi, Eleonora ^{[3
]}

Borgatti, Luca ^{[5
]}

Pugliatti, Maura ^{[2
,3
]}

Suppiej, Agnese ^{[1
,6
]}

机构：

[1] Univ Ferrara, Dept Med Sci Pediat Sect, Ferrara, Italy

[2] Univ Ferrara, Dept Neurosci & Rehabil, Ferrara, Italy

[3] S Anna Univ Hosp, Dept Neurosci & Rehabil, Ferrara, Italy

[4] Univ Ferrara, Dept Anesthesia & Intens Care, Ferrara, Italy

[5] S Anna Univ Hosp, Pediat Neuroradiol, Ferrara, Italy

[6] Dept Med Sci, Pediat Sect Arcispedale St Anna, via Aldo Moro n8, I-44124 Ferrara, Italy

来源：

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY | 2023年 / 42卷

关键词：

ANE1; Sars-CoV-2; Pediatric; RANBP2; Mitochondrial homeostasis; ENCEPHALOPATHY; MUTATION;

D O I：

10.1016/j.ejpn.2022.12.010

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：117 / 121

页数：5

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