Li JQ, Gong JY, Knisely AS, Zhang MH, Wang JS. Recurrent acute liver failure associated with novel SCYL1 mutation: A case report. World J Clin Cases 2019; 7(4): 494-499 [PMID: 30842961 DOI: 10.12998/wjcc.v7.i4.494]
Corresponding Author of This Article
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
Research Domain of This Article
Medicine, Research & Experimental
Article-Type of This Article
Case Report
Open-Access Policy of This Article
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/
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Share the Article
Li JQ, Gong JY, Knisely AS, Zhang MH, Wang JS. Recurrent acute liver failure associated with novel SCYL1 mutation: A case report. World J Clin Cases 2019; 7(4): 494-499 [PMID: 30842961 DOI: 10.12998/wjcc.v7.i4.494]
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 bythe 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.
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 Processing time: 98 Days and 22.8 Hours
Abstract
BACKGROUND
Pediatric recurrent acute liver failure (RALF) with recovery between episodes is rare. Causes include autoimmune disease, which may flare and subside; intermittent exposure to toxins, as with ingestions; and metabolic disorders, among them the fever-associated crises ascribed to biallelic mutations in SCYL1, with RALF beginning in infancy. SCYL1 disease manifest with RALF, as known to date, includes central and peripheral neurologic and muscular morbidity (hepatocerebellar neuropathy syndrome). Primary ventilatory and skeletal diseases also have been noted in some reports.
CASE SUMMARY
We describe a Han Chinese boy in whom fever-associated RALF began at age 14 mo. Bilateral femoral head abnormalities and mild impairment of neurologic function were first noted aged 8 years 6 mo. Liver biopsy after the third RALF episode (7 years) and during resolution of the fourth RALF episode (8 years 6 mo) found abnormal architecture and hepatic fibrosis, respectively. Whole-exome sequencing revealed homozygosity for the novel frameshift mutation c.92_93insGGGCCCT, p.(H32Gfs*20) in SCYL1 (parental heterozygosity confirmed).
CONCLUSION
Our findings expand the mutational and clinical spectrum of SCYL1 disease. In our patient a substantial neurologic component was lacking and skeletal disease was identified relatively late.
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.
