Case Report
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Feb 26, 2019; 7(4): 494-499
Published online Feb 26, 2019. doi: 10.12998/wjcc.v7.i4.494
Recurrent acute liver failure associated with novel SCYL1 mutation: A case report
Jia-Qi Li, Jing-Yu Gong, A S Knisely, Mei-Hong Zhang, Jian-She Wang
Jia-Qi Li, Jing-Yu Gong, Mei-Hong Zhang, Department of Pediatrics, Jinshan Hospital of Fudan University, Shanghai 201508, China
A S Knisely, Institut für Pathologie, Medizinische Universität Graz, Neue Stiftingtalstraße 6, Graz 8010, Austria
Jian-She Wang, The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University, Shanghai 201102, China
Author contributions: Wang JS designed the report and managed the patient; Li JQ was responsible for whole-exome sequencing data analysis and interpretation of sequence variants, validation by Sanger sequencing, and drafting the manuscript; Gong JY and Zhang MH were involved in the acquisition, analysis, and interpretation of clinical data; Knisely AS was responsible for the interpretation of histopathologic data and for manuscript editing; all authors have reviewed the manuscript and approved the final version to be submitted.
Supported by the National Natural Science Foundation of China, No. 81570468.
Informed consent statement: Informed consent was obtained from the parents of the patient.
Conflict-of-interest statement: The authors of this manuscript have no conflicts of interest to disclose.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared according to those guidelines.
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/
Corresponding author: Jian-She Wang, PhD, Professor, The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University, 399 Wanyuan Road, Minhang District, Shanghai 201102, China. jshwang@shmu.edu.cn
Telephone: +86-21-64931171 Fax: +86-21-61143167
Received: November 20, 2018
Peer-review started: November 20, 2018
First decision: December 20, 2018
Revised: January 16, 2019
Accepted: January 29, 2019
Article in press: January 30, 2019
Published online: February 26, 2019
Core Tip

Core tip: An infant or child with recurrent acute liver failure may have biallelic mutation in SCYL1. A search for causes should include evaluation of this gene even if neurologic or skeletal disease is not appreciated.