Wang XQ, Chen CB, Zhao WJ, Fu GB, Zhai Y. Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations: A case report. World J Clin Cases 2023; 11(15): 3533-3541 [PMID: 37383919 DOI: 10.12998/wjcc.v11.i15.3533]
Corresponding Author of This Article
Yu Zhai, MD, Chief Physician, Department of Neurology, Hainan Western Central Hospital, No. 2 Fubo East Road, Danzhou 571799, Hainan Province, China. diyumail@163.com
Research Domain of This Article
Neurosciences
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/
Xue-Qiang Wang, Department of Neurology, Sanya People’s Hospital, West China (Sanya) Hospital, Sichuan University, Sanya 572000, Hainan Province, China
Chuan-Bi Chen, Department of Pediatrics, Sanya Women and Children’s Hospital Managed by Shanghai Children's Medical Center, Sanya 572000, Hainan Province, China
Wen-Jie Zhao, Department of Neurology, The First Affiliated Hospital of Hainan Medical College, Haikou 570100, Hainan Province, China
Guang-Bin Fu, Yu Zhai, Department of Neurology, Hainan Western Central Hospital, Danzhou 571799, Hainan Province, China
Author contributions: Wang XQ, Chen CB and Zhai Y contributed to manuscript writing and editing; Wang XQ, Zhai Y and Fu GB contributed to manuscript data collection; Wang XQ and Zhai Y examined the patient and carried out the treatment strategy; Wang XQ, Chen CB, Zhai Y and Zhao WJ acquired and analyzed all the clinical data; Fu GB analyzed and interpreted the neuroelectrophysiological examination findings; All authors read and approved the final version of the manuscript.
Informed consent statement: Informed written consent was obtained from the patient for the publication of this report and any accompanying images.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Yu Zhai, MD, Chief Physician, Department of Neurology, Hainan Western Central Hospital, No. 2 Fubo East Road, Danzhou 571799, Hainan Province, China. diyumail@163.com
Received: October 13, 2022 Peer-review started: October 13, 2022 First decision: January 30, 2023 Revised: March 6, 2023 Accepted: April 13, 2023 Article in press: April 13, 2023 Published online: May 26, 2023
Abstract
BACKGROUND
Adult neuronal ceroid lipofuscinosis (ANCL) can be caused by compound heterozygous recessive mutations in CLN6. The main clinical features of the disease are neurodegeneration, progressive motor dysfunction, seizures, cognitive decline, ataxia, vision loss and premature death.
CASE SUMMARY
A 37-year-old female presented to our clinic with a 3-year history of limb weakness and gradually experiencing unstable walking. The patient was diagnosed with CLN6 type ANCL after the identification of mutations in the CLN6 gene. The patient was treated with antiepileptic drugs. The patient is under ongoing follow-up. Unfortunately, the patient’s condition has deteriorated, and she is currently unable to care for herself.
CONCLUSION
There is presently no effective treatment for ANCL. However, early diagnosis and symptomatic treatment are possible.
Core Tip: Adult neuronal ceroid lipofuscinosis (NCL) is a rare neurodegenerative disease that can be caused by mutations in the CLN6 gene. Our patient experienced limb weakness and unstable walking. Whole exome sequencing and Sanger sequencing revealed that the patient had a recessive compound heterozygous mutation in CLN6. The mutation sites are novel and contribute to the knowledge of mutations causing NCL. Although there is no curative treatment for NCL, early diagnosis and symptomatic treatment are possible.
