Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jan 26, 2021; 9(3): 623-631
Published online Jan 26, 2021. doi: 10.12998/wjcc.v9.i3.623
Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature
Lan-Xiao Cao, Ying Liu, Zhao-Jun Song, Bao-Rong Zhang, Wen-Ying Long, Guo-Hua Zhao
Lan-Xiao Cao, Guo-Hua Zhao, Department of Neurology, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu 322000, Zhejiang Province, China
Ying Liu, Zhao-Jun Song, Wen-Ying Long, Central Laboratory, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu 322000, Zhejiang Province, China
Bao-Rong Zhang, Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang Province, China
Author contributions: Zhang BR played a major role in the acquisition of data; Liu Y interpreted the patient data; Cao LX analyzed the data and was a major contributor in writing the manuscript; Zhao GH and Long WY revised the manuscript for intellectual content; All authors read and approved the final manuscript.
Supported by the Research Foundation of Zhejiang Health, No. 2020RC061.
Informed consent statement: Written informed consent was obtained from each participant for publication of this case report.
Conflict-of-interest statement: The authors declare that they have no competing interests.
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: Guo-Hua Zhao, MD, Doctor, Department of Neurology, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, No. 1 Shangcheng Avenue Yiwu, Yiwu 322000, Zhejiang Province, China. gzhao@zju.edu.cn
Received: July 12, 2020
Peer-review started: July 12, 2020
First decision: November 26, 2020
Revised: December 2, 2020
Accepted: December 10, 2020
Article in press: December 10, 2020
Published online: January 26, 2021
Core Tip

Core Tip: Type 1 sialidosis is a rare autosomal recessive lysosomal storage disorder. Very few cases of this condition have been reported in mainland China, which may be partly attributed to an inadequate awareness of lysosomal storage diseases among neurology physicians. This study reports the clinical and molecular characteristics of a Chinese patient with type 1 sialidosis confirmed by genetic testing. Neuraminidase 1 mutations p.S182G and p.P80L are common pathogenic variants of all three patients identified in Mainland China, coming from three unrelated families.