Ding L, Huang TT, Ying GH, Wang SY, Xu HF, Qian H, Rahman F, Lu XP, Guo H, Zheng G, Zhang G. De novo mutation of NAXE (APOAIBP)-related early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1: A case report. World J Clin Cases 2023; 11(14): 3340-3350 [PMID: 37274027 DOI: 10.12998/wjcc.v11.i14.3340]
Corresponding Author of This Article
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
Research Domain of This Article
Clinical Neurology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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: http://creativecommons.org/licenses/by-nc/4.0/
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 bythe 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
Abstract
BACKGROUND
Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is a rare autosomal recessive severe neurometabolic disease. The aim of this study was to investigate the clinical characteristics and genetic pathogenicity of PEBEL1 caused by rare NAXE (or APOA1BP)-related defects.
CASE SUMMARY
The patient was a girl aged 2 years and 10 mo. She was hospitalized due to walking disorder for > 40 d. The clinical manifestations were ataxia, motor function regression, hypotonia, and eyelid ptosis. Within 1 mo of hospitalization, she developed sigh breathing, respiratory failure, cerebellar edema and brain hernia, and finally she died. Changes were found in cranial imaging, including cerebellar edema accompanied by symmetrical myelopathy. Through whole exome sequencing, we detected NAXE compound heterozygous variation (NM 144772.3) c.733A>C (p. Lys245Gln, dbSNP: rs770023429) and novel variation c.370G>T (p.Gly124Cys) in the germline gene. The clinical features and core phenotypes of this case were consistent with 18 previously reported cases of PEBEL1.
CONCLUSION
This is the first case of NAXE-related PEBEL1 with severe clinical phenotype in Mainland China. The p.Gly124Cys mutation discovered in this case has enriched the pathogenic variation spectrum of NAXE.
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.