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©The Author(s) 2016. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Mar 21, 2016; 22(11): 3261-3267
Published online Mar 21, 2016. doi: 10.3748/wjg.v22.i11.3261
Published online Mar 21, 2016. doi: 10.3748/wjg.v22.i11.3261
Clinical features, endoscopic polypectomy and STK11 gene mutation in a nine-month-old Peutz-Jeghers syndrome Chinese infant
Zhi-Heng Huang, Jie Wu, Ying Huang, Department of Gastroenterology, Children’s Hospital of Fudan University, Shanghai 201102, China
Zai Song, Department of Pediatric Surgery, Children’s Hospital of Fudan University, Shanghai 201102, China
Ping Zhang, The Molecular Genetic Diagnosis Center, Shanghai Key Lab of Birth Defects, Translational Medicine Research Center of Children’s Development and Disease, Pediatrics Research Institute, Children’s Hospital of Fudan University, Shanghai 201102, China
Ying Huang, Department of Gastroenterology, Children’s Hospital of Xiamen, Xiamen 361006, Fujian Province, China
Author contributions: Huang ZH and Song Z contributed equally to drafting and revising the manuscript; Song Z contributed to the surgery; Zhang P contributed to the sample analysis; Wu J contributed to the endoscopic polypectomy; Huang Y contributed to the endoscopic polypectomy, paper design and supervision of the manuscript preparation; all authors contributed to the patient management and approved the final manuscript.
Institutional review board statement: The publication of this manuscript has been approved and reviewed and approved by the Children’s Hospital of Fudan University Review Board.
Informed consent statement: The patient’s parents provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The authors declare no conflicts of interest.
Data sharing statement: No additional data are available.
Open-Access: 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/
Correspondence to: Ying Huang, MD, PhD, Professor, Department of Gastroenterology, Children’s Hospital of Fudan University, No. 399 WanYuan Road, Shanghai 201102, China. yhuang815@163.com
Telephone: +86-21-64931727 Fax: +86-21-64931901
Received: August 8, 2015
Peer-review started: August 11, 2015
First decision: October 14, 2015
Revised: November 11, 2015
Accepted: December 8, 2015
Article in press: December 8, 2015
Published online: March 21, 2016
Peer-review started: August 11, 2015
First decision: October 14, 2015
Revised: November 11, 2015
Accepted: December 8, 2015
Article in press: December 8, 2015
Published online: March 21, 2016
Core Tip
Core tip: This is the first report detailing a nine-month-old Chinese Peutz-Jeghers syndrome (PJS) infant with multiple polyps. A perforation and pneumoperitoneum developed after polypectomy and were followed by sepsis. STK11 gene sequencing and pathology results confirmed that this infant had PJS with a novel, de novo mutation. This article also gives some thoughts to PJS management in children, especially in infants.