Recurrent infection triggered encephalopathy syndrome in a pediatric patient with <i>RANBP2</i> mutation and severe acute respiratory syndrome coronavirus 2 infection.

Li, Jiaqi; Huo, Feng; Wang, Shuo; Fan, Yimu; Wu, Jie; Zhang, Zhezhe; Liu, Shuangjun; Wang, Quan

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

Li, Jiaqi; Huo, Feng; Wang, Shuo; Fan, Yimu; Wu, Jie; Zhang, Zhezhe; Liu, Shuangjun; Wang, Quan.

Afiliação

Li J; Emergency Department Beijing Children's Hospital, Capital Medical University, National Center for Children's Health Beijing China.
Huo F; Emergency Department Beijing Children's Hospital, Capital Medical University, National Center for Children's Health Beijing China.
Wang S; Emergency Department Beijing Children's Hospital, Capital Medical University, National Center for Children's Health Beijing China.
Fan Y; Emergency Department Beijing Children's Hospital, Capital Medical University, National Center for Children's Health Beijing China.
Wu J; Emergency Department Beijing Children's Hospital, Capital Medical University, National Center for Children's Health Beijing China.
Zhang Z; Emergency Department Beijing Children's Hospital, Capital Medical University, National Center for Children's Health Beijing China.
Liu S; Emergency Department Beijing Children's Hospital, Capital Medical University, National Center for Children's Health Beijing China.
Wang Q; Emergency Department Beijing Children's Hospital, Capital Medical University, National Center for Children's Health Beijing China.

Pediatr Investig ; 7(4): 290-296, 2023 Dec.

Article em En | MEDLINE | ID: mdl-38050538

ABSTRACT

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.