Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. May 16, 2023; 11(14): 3340-3350
Published online May 16, 2023. doi: 10.12998/wjcc.v11.i14.3340
De novo mutation of NAXE (APOAIBP)-related early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1: A case report
Le Ding, Ting-Ting Huang, Guo-Huan Ying, Shang-Yu Wang, Hai-Feng Xu, Hao Qian, Faiza Rahman, Xiao-Peng Lu, Hu Guo, Guo Zheng, Gang Zhang
Le Ding, Ting-Ting Huang, Guo-Huan Ying, Shang-Yu Wang, Hai-Feng Xu, Hao Qian, Xiao-Peng Lu, Hu Guo, Guo Zheng, Gang Zhang, Department of Neurology, Children’s Hospital of Nanjing Medical University, Nanjing 210008, Jiangsu Province, China
Faiza Rahman, Rehman Medical Institute Peshawar, Peshawar 39250, Pakistan
Author contributions: Zheng G and Ding L designed and performed the study; Huang TT, Ying GH, and Wang SY wrote the draft manuscript and were equal contributors to the study; Xu HF and Qian H collected the data; Rahman F, Lu XP, Guo H, and Zheng G carried out data analysis and language revising; All authors approved the final manuscript for submission.
Supported by the Epilepsy Research Fund of Chinese Anti-Epilepsy Association, No. CU-A-2021-17; Nanjing Municipal Health Bureau key project, No. ZKX21047; and the Postdoctoral Research Foundation of China, No. 2020M671550.
Informed consent statement: Written informed consent for publication was obtained from the parents.
Conflict-of-interest statement: All the authors have no financial relationship with any commercial entity with a potential interest in the subject of this manuscript.
CARE Checklist (2016) statement: All the authors have no financial relationship with any commercial entity with a potential interest in the subject of this manuscript.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Gang Zhang, MD, PhD, Doctor, Department of Neurology, Children’s Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Nanjing 210008, Jiangsu Province, China. zhanggangnjmu@126.com
Received: February 16, 2023
Peer-review started: February 16, 2023
First decision: March 14, 2023
Revised: March 26, 2023
Accepted: April 12, 2023
Article in press: April 12, 2023
Published online: May 16, 2023
Processing time: 88 Days and 20.3 Hours
Core Tip

Core Tip: We report a girl with early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1), and review the reported cases in the literature. The disease has rapid progression with an unfavorable prognosis. Gene detection is the only diagnostic method. We report the first case of PEBEL1 with severe clinical phenotype in Mainland China.