tetano
Editor, Senior Moderator
Pediatr Investig
. 2023 Nov 19;7(4):290-296.
doi: 10.1002/ped4.12406. eCollection 2023 Dec. Recurrent infection triggered encephalopathy syndrome in a pediatric patient with RANBP2 mutation and severe acute respiratory syndrome coronavirus 2 infection
Jiaqi Li[SUP] 1 [/SUP], Feng Huo[SUP] 1 [/SUP], Shuo Wang[SUP] 1 [/SUP], Yimu Fan[SUP] 1 [/SUP], Jie Wu[SUP] 1 [/SUP], Zhezhe Zhang[SUP] 1 [/SUP], Shuangjun Liu[SUP] 1 [/SUP], Quan Wang[SUP] 1 2 [/SUP]
Affiliations
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.
Keywords: Acute necrotizing encephalopathy; COVID‐19; RANBP2; SARS‐CoV‐2.
. 2023 Nov 19;7(4):290-296.
doi: 10.1002/ped4.12406. eCollection 2023 Dec. Recurrent infection triggered encephalopathy syndrome in a pediatric patient with RANBP2 mutation and severe acute respiratory syndrome coronavirus 2 infection
Jiaqi Li[SUP] 1 [/SUP], Feng Huo[SUP] 1 [/SUP], Shuo Wang[SUP] 1 [/SUP], Yimu Fan[SUP] 1 [/SUP], Jie Wu[SUP] 1 [/SUP], Zhezhe Zhang[SUP] 1 [/SUP], Shuangjun Liu[SUP] 1 [/SUP], Quan Wang[SUP] 1 2 [/SUP]
Affiliations
- PMID: 38050538
- PMCID: PMC10693665
- DOI: 10.1002/ped4.12406
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.
Keywords: Acute necrotizing encephalopathy; COVID‐19; RANBP2; SARS‐CoV‐2.