Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Dec 26, 2021; 9(36): 11487-11494
Published online Dec 26, 2021. doi: 10.12998/wjcc.v9.i36.11487
De novo mutation loci and clinical analysis in a child with sodium taurocholate cotransport polypeptide deficiency: A case report
Hui-Yan Liu, Meng Li, Qi Li
Hui-Yan Liu, Meng Li, Qi Li, Department of Pediatrics, the First Affiliated Hospital of Kunming Medical University, Kunming 650000, Yunnan Province, China
Author contributions: Liu HY, Li M and Li Q performed the diagnostic investigations and treatments; Liu HY reviewed the literature and contributed to manuscript drafting; Li M and Li Q revised the manuscript; all authors issued final approval for the version to be submitted.
Supported by Yunnan Science Foundation Project, No. 2019-81960102.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest.
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: Qi Li, PhD, Professor, Department of Pediatrics, the First Affiliated Hospital of Kunming Medical University, No. 295 Xichang Road, Kunming 650000, Yunnan Province, China. 412289442@qq.com
Received: August 14, 2021
Peer-review started: August 14, 2021
First decision: September 29, 2021
Revised: October 10, 2021
Accepted: November 18, 2021
Article in press: November 18, 2021
Published online: December 26, 2021
Processing time: 131 Days and 11.4 Hours
Core Tip

Core Tip: The mutation loci and clinical manifestations of sodium taurocholate cotransport polypeptide deficiency disease are currently under further investigation. Our case emphasizes the need to re-examine the clinical manifestations, prognosis and interventions associated with hypercholesterolemia due to this disease and suggests that behavioral neurodevelopmental delay may also be a clinical manifestation of this disease.