Copyright
©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Oct 26, 2021; 9(30): 9276-9284
Published online Oct 26, 2021. doi: 10.12998/wjcc.v9.i30.9276
Published online Oct 26, 2021. doi: 10.12998/wjcc.v9.i30.9276
Emergence of lesions outside of the basal ganglia and irreversible damage to the basal ganglia with severe β-ketothiolase deficiency: A case report
Jun Guo, Dan Ren, Jing Yu, Fu Liu, Rong-Xiang Zhao, Department of Paediatrics, Mianyang Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Mianyang 621000, Sichuan Province, China
Zhong-Jie Guo, Department of Medical Image, Mianyang Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Mianyang 621000, Sichuan Province, China
Yu Wang, Department of Pharmacy, Mianyang Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Mianyang 621000, Sichuan Province, China
Author contributions: Guo J and Ren D carried out the treatment and management; Guo J, Ren D, and Liu F carried out the follow-up of the patient; Guo J, Ren D, and Wang Y carried out the data collection; Guo J wrote the manuscript; Guo ZJ observed and analysed the radiographic images; Yu J made process on key issues in the treatment; Zhao RX guide the professional knowledge and decision; and Wang Y conceived, reviewed, and revised the manuscript, reviewed the research progress, supervised the schedule, and coordinated the study.
Informed consent statement: The legal guardian of the patient provided informed written consent prior to study enrollment.
Conflict-of-interest statement: All authors declare no conflict of interest for this manuscript.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
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: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Yu Wang, MD, Doctor, Department of Pharmacy, Mianyang Central Hospital, School of Medicine, University of Electronic Science and Technology of China, No. 12 Changjia Alley, Jingzhong Street, Mianyang 621000, Sichuan Province, China. sidalin198521@126.com
Received: June 3, 2021
Peer-review started: June 3, 2021
First decision: June 17, 2021
Revised: April 15, 2021
Accepted: August 23, 2021
Article in press: August 23, 2021
Published online: October 26, 2021
Peer-review started: June 3, 2021
First decision: June 17, 2021
Revised: April 15, 2021
Accepted: August 23, 2021
Article in press: August 23, 2021
Published online: October 26, 2021
Core Tip
Core Tip: In our report, abnormal signals with a nodular shape were not only found in the bilateral basal ganglia (the lesions were mainly located in the corpus striatum), but they were also found in the bilateral cerebral peduncle and mesencephalon. These severe and extensive lesions caused the irreversible damage to the basal ganglia finally. It is suggested that the range of lesions in some patients may be more extensive than previously thought. In addition, two unusual mutations (c.478C>G; c.951C>T) may associate with this disease. As the clinical symptoms at the first onset were life-threatening with the extensive lesions, it is imperative that clinicians take notice when these two mutations appear in gene sequences.