Copyright
©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Nov 26, 2020; 8(22): 5678-5683
Published online Nov 26, 2020. doi: 10.12998/wjcc.v8.i22.5678
Published online Nov 26, 2020. doi: 10.12998/wjcc.v8.i22.5678
Gene diagnosis of infantile neurofibromatosis type I: A case report
Meng-Zhu Li, Lin Yuan, Zhi-Qiang Zhuo, Department of Infectious Diseases, Xiamen Children’s Hospital, Children’s Hospital of Fudan University Xiamen Branch, Xiamen 361006, Fujian Province, China
Author contributions: Li MZ and Yuan L collected basic information and image data from the patient and wrote the main content of the manuscript; Yuan L and Zhuo ZQ were involved in the manuscript writing and revision; Zhuo ZQ provided guidance on the writing of the manuscript.
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 conflict 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: Zhi-Qiang Zhuo, MD, Chief Doctor, Department of Infectious Diseases, Xiamen Children’s Hospital, Children’s Hospital of Fudan University Xiamen Branch, No. 92 Yibin Road, Huli District, Xiamen 361006, Fujian Province, China. q661113@sina.cn
Received: June 13, 2020
Peer-review started: June 13, 2020
First decision: September 13, 2020
Revised: September 22, 2020
Accepted: October 19, 2020
Article in press: October 19, 2020
Published online: November 26, 2020
Peer-review started: June 13, 2020
First decision: September 13, 2020
Revised: September 22, 2020
Accepted: October 19, 2020
Article in press: October 19, 2020
Published online: November 26, 2020
Core Tip
Core Tip: Neurofibromatosis type I (NF1) is a common autosomal dominant disorder with clinical symptoms in the skin, nervous system, skeleton, and eyes. NF1 development is related to gene deletion, and its incidence rate is about 1/3000. It is rare among children, especially infants. This report presents the case of a 3-mo-old male infant who was diagnosed with NF1. We believe that our study makes a significant contribution to the literature because this information will be of practical use to clinicians for management of similar conditions and encourage other researchers to validate our findings.