Recurrent infection triggered encephalopathy syndrome in a pediatric patient with RANBP2 mutation and severe acute respiratory syndrome coronavirus 2 infection

• Published in: Pediatric investigation Vol. 7; no. 4; pp. 290 - 296
• Main Authors: Li, Jiaqi, Huo, Feng, Wang, Shuo, Fan, Yimu, Wu, Jie, Zhang, Zhezhe, Liu, Shuangjun, Wang, Quan
• Format: Journal Article
• Language: English
• Published: United States John Wiley & Sons, Inc 01.12.2023; John Wiley and Sons Inc; Wiley
• Subjects: Acute necrotizing encephalopathy; Case Report; Case reports; COVID-19; Infections; Magnetic resonance imaging; Mortality; Mutation; Pediatrics; RANBP2; SARS‐CoV‐2; RANBP2; COVID‐19; Acute necrotizing encephalopathy; SARS‐CoV‐2
• ISSN: 2574-2272; 2096-3726; 2574-2272
• DOI: 10.1002/ped4.12406

ABSTRACT Introduction Acute necrotizing encephalopathy (ANE), a fatal subtype of infection‐triggered encephalopathy syndrome (ITES), can be triggered by many systemic infections. RANBP2 gene mutations were associated with recurrent ANE. Case presentation Here we report a 1‐year‐old girl with recurrent ITES and RANBP2 mutation. She was diagnosed with influenza‐associated encephalopathy and made a full recovery on the first episode. After severe acute respiratory syndrome coronavirus 2 infection, the patient presented with seizures and deteriorating mental status. Brain magnetic resonance imaging revealed necrotic lesions in bilateral thalami and pons. Methylprednisolone, immunoglobulin, and interleukin 6 inhibitors were administered. Her consciousness level was improved at discharge. Nineteen cases of 2019 coronavirus disease‐related ANE have been reported, of which 22.2% of patients died and 61.1% had neurologic disabilities. RANBP2 gene mutation was found in five patients, two of whom developed recurrent ITES. Conclusion Patients with RANBP2 mutations are at risk for recurrent ITES, may develop ANE, and have a poor prognosis after relapse. Acute necrotizing encephalopathy (ANE), a fatal subtype of infection‐triggered encephalopathy syndrome (ITES), can be triggered by many systemic infections. Studies have found that RANBP2 missense mutations predispose individuals to familial and recurrent ANE. Here we report a case of recurrent ITES in a pediatric patient with RANBP2 gene mutation.