Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Apr 6, 2022; 10(10): 3278-3283
Published online Apr 6, 2022. doi: 10.12998/wjcc.v10.i10.3278
Atypical infantile-onset Pompe disease with good prognosis from mainland China: A case report
Ying Zhang, Cheng Zhang, Jian-Bo Shu, Fang Zhang
Ying Zhang, Cheng Zhang, Fang Zhang, Department of Neonatal, Tianjin Children’s Hospital (Tianjin University Children's Hospital), Tianjin 300134, China
Jian-Bo Shu, Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin Pediatric Research Institute, Tianjin Children’s Hospital (Tianjin University Children's Hospital), Tianjin 300134, China
Author contributions: Zhang Y and Zhang C contributed equally to this work; Zhang Y and Zhang C designed the research study and performed the research; Zhang C and Shu JB contributed new reagents and analytic tools; Zhang Y, Zhang C and Zhang F analyzed the data and wrote the manuscript; all authors have read and approve the final manuscript.
Supported by Tianjin Municipal Health Commission, China, No. ZC20060.
Informed consent statement: We confirm that we have read the issues involved in ethical publication and declare that this manuscript is consistent with the guidelines. All procedures performed in the study involving human participants were in accordance with the ethical standards of the institutional and/or national research committees and with the Helsinki Declaration(as revised in 2013). Written informed consent was obtained from the patient for publication of this study and any accompanying images.
Conflict-of-interest statement: No conflict of interest was reported for all authors.
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: Ying Zhang, MD, Department of Neonatal, Tianjin Children’s Hospital (Tianjin University Children's Hospital), No. 238 Longyan Road, Beichen District, Tianjin 300134, China. yingzhangqh@126.com
Received: November 20, 2021
Peer-review started: November 20, 2021
First decision: January 11, 2022
Revised: January 29, 2022
Accepted: February 20, 2022
Article in press: February 20, 2022
Published online: April 6, 2022
Core Tip

Core Tip: Infantile-onset Pompe disease (IOPD), a form of Pompe disease, is a rare autosomal recessive genetic disease occurred in infants, who represent hypertrophic cardiomyopathy, because of unusual accumulation of glycogen or acid maltase deficiency. More than 90% patients died before 1 year old. In this manuscript, we report a female case which is an atypical IOPD with novel inherited pathogenic heterozygous variants for acid α-glucosidase gene have not been reported before, and the patient has obtained a good prognosis under the enzyme replacement therapy.