Clinical characteristics and prognosis of 18 patients with acute necrotizing encephalopathy
10.3760/cma.j.cn113694-20250101-00001
- VernacularTitle:急性坏死性脑病18例临床特征与预后
- Author:
Chang GENG
1
;
Li GONG
;
Weihua ZHANG
;
Xiao YANG
;
Weili ZHAO
;
Qinzhou WANG
;
Dongxiao JIANG
;
Jin WU
;
Haitao REN
;
Siyuan FAN
;
Hongzhi GUAN
;
Bin PENG
Author Information
1. 中国医学科学院北京协和医院神经科，北京 100730
- Publication Type:Journal Article
- Keywords:
Respirovirus infections;
Mycoplasma infections;
Acute necrotizing encephalopathy;
Parainfectious encephalopathy;
RANBP2 gene
- From:
Chinese Journal of Neurology
2025;58(5):494-500
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical characteristics, RAN-binding protein 2 ( RANBP2) gene variations, and prognosis in Chinese acute necrotizing encephalopathy (ANE) patients. Methods:A retrospective analysis of ANE cases registered in the Peking Union Medical College Hospital Encephalitis Registry System from 2022 to 2024, involving patients from Peking Union Medical College Hospital and other hospitals, was conducted. A descriptive study was performed on the clinical characteristics, treatments and prognosis, cerebrospinal fluid examination results, and imaging findings of these patients based on adjusted ANE diagnostic criteria. Whole-exome sequencing technology was used to detect gene mutations in these patients.Results:A total of 18 ANE cases were included, ranged in age from 2 to 72 [20(5, 43)] years. The male-to-female ratio was 4∶5. All patients were found with precipitating infections including COVID-19, influenza A virus and Mycoplasma pneumoniae infections. All patients presented with fever, with varying degrees of consciousness disturbance observed in 16 cases, and seizures in 10 cases. All patients underwent lumbar puncture, with normal or mildly elevated white cell counts [3(2, 13)×10 6/L] and mildly to moderately elevated protein levels [1.90(0.92, 4.65) g/L]. A total of 6 patients were found with extremely elevated interleukin-6 level [950(164, 2 000) pg/ml] in cerebrospinal fluid. Bilateral symmetric thalamic lesions were typical imaging features of ANE, while involvement of other areas such as cortical and subcortical white matter, brainstem, and cerebellum was also observed. A total of 14 patients performed genetic tests while 4 patients were identified with RANBP2 gene mutations (c.1754C>T in 3 cases, c.1966A>G in 1 case). All patients received immunotherapy, and 7 patients died at discharge while other patients presented with neurological sequelae of varying degrees. Conclusions:ANE is a rare and severe parainfectious encephalopathy that can occur in both children and adults. Clinically, it is characterized by rapidly progressing encephalopathy following systematic infection, with bilateral symmetric thalamic lesions. The detection of RANBP2 gene mutations could help make the diagnosis.
