Recurrent acute liver failure associated with novel SCYL1 mutation:A case report

作     者：Jia-Qi Li Jing-Yu Gong A S Knisely Mei-Hong Zhang Jian-She Wang 

作者机构：Department of Pediatrics Jinshan Hospital of Fudan University Institut für Pathologie Medizinische Universit?t Graz The Center for Pediatric Liver Diseases Children’s Hospital of Fudan University 

出 版 物：《World Journal of Clinical Cases》 (世界临床病例杂志)

年 卷 期：2019年第7卷第4期

页      面：494-499页

核心收录：

学科分类：10[医学] 

基　　金：the National Natural Science Foundation of China No.81570468 

主　　题：SCYL1 Recurrent acute liver failure Whole-exome sequencing Case report 

摘      要：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 *** 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_93 insGGGCCCT, p.(H32 Gfs~*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.