Case Report
Copyright ©The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Aug 7, 2015; 21(29): 8981-8984
Published online Aug 7, 2015. doi: 10.3748/wjg.v21.i29.8981
Wilson disease with hepatic presentation in an eight-month-old boy
Kuerbanjiang Abuduxikuer, Li-Ting Li, Yi-Ling Qiu, Neng-Li Wang, Jian-She Wang
Kuerbanjiang Abuduxikuer, Li-Ting Li, Yi-Ling Qiu, Jian-She Wang, Liver Center, Children’s Hospital of Fudan University, Shanghai 200032, China
Neng-Li Wang, Jian-She Wang, Department of Pediatrics, Jinshan Hospital of Fudan University, Shanghai 201508, China
Author contributions: Wang JS conceived the study, treated and followed up the index patient, revised the manuscript, and approved the submission of the final draft; Abuduxikuer K wrote the manuscript, retrieved relevant information from patient files, contacted the family for further information, determined the nature of genetic mutations by consulting genetic databases, and submitted the approved draft; Li LT, Qiu YL and Wang NL collected patient files, contributed to writing the manuscript, and conducted genetic analysis.
Supported by National Natural Science Foundation of China, No. 81070281.
Institutional review board statement: Institutional Review Board in Children’s Hospital of Fudan University waived the need for ethical approval for this retrospective case analysis.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: We have no conflict of interest to declare.
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: Jian-She Wang, MD, PhD, Professor, Department of Pediatrics, Jinshan Hospital of Fudan University, No. 1508 Longhang Road, Jinshan District, Shanghai 201508, China. jshwang@shmu.edu.cn
Telephone: +86-21-64931171
Received: January 9, 2015
Peer-review started: January 10, 2015
First decision: February 10, 2015
Revised: March 26, 2015
Accepted: June 16, 2015
Article in press: June 16, 2015
Published online: August 7, 2015
Processing time: 210 Days and 17.5 Hours
Core Tip

Core tip: Wilson disease is rarely diagnosed during infancy. The youngest child with normal liver function reported so far is an 8-mo-old Japanese boy, and the youngest child with liver function abnormality is a 9-mo-old Korean boy. Here we report an 8-mo-old Chinese boy presented with elevated liver enzymes, and low serum ceruloplasmin level. Diagnosis of Wilson disease was confirmed with ATP7B gene sequencing of the index case, and parental origins of disease causing mutations were outlined. To our best knowledge, this is the youngest patient with elevated liver enzymes ever reported worldwide.