Recurrent acute liver failure associated with novel SCYL1 mutation: A case report
Recurrent acute liver failure associated with novel SCYL1 mutation: A case report
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与新型 SCYL1 突变相关的复发性急性肝衰竭：病例报告
DOI：
10.12998/wjcc.v7.i4.494
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发表时间：
2019-02-26
影响因子：
1.1
通讯作者：
Wang, Jian-She
中科院分区：
文献类型：
--
作者：
Li, Jia-Qi;Gong, Jing-Yu;Wang, Jian-She
背景小儿复发性急性肝衰竭（RALF）在两次发作之间恢复的情况很少见。引起自身免疫性疾病，该疾病可能会发作或消退；间歇性接触毒素，如摄入毒素；和代谢紊乱，其中与发烧相关的危机归因于 SCYL1 的双等位基因突变，RALF 始于婴儿期。迄今为止，SCYL1 疾病表现为 RALF，包括中枢和周围神经系统和肌肉疾病（肝小脑神经病综合征）。一些报告中还提到了原发性通气和骨骼疾病。病例摘要我们描述了一名汉族男孩，他在 14 个月大时开始出现与发烧相关的 RALF。首次发现双侧股骨头异常和神经功能轻度损伤是在 8 岁 6 个月时。第三次 RALF 发作后（7 年）和第四次 RALF 发作期间（8 年 6 个月）的肝活检分别发现异常结构和肝纤维化。全外显子组测序揭示了 SCYL1 中新型移码突变 c.92_93insGGGCCCT, p.(H32Gfs*20) 的纯合性（已确认亲本杂合性）。结论我们的研究结果扩大了 SCYL1 疾病的突变和临床谱。在我们的患者中，缺乏大量的神经系统成分，骨骼疾病的发现也相对较晚。
BACKGROUNDPediatric recurrent acute liver failure (RALF) with recovery between episodes is rare. Causes indude 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, indudes central and peripheral neurologic and muscular morbidity (hepatocerebellar neuropathy syndrome). Primary ventilatory and skeletal diseases also have been noted in some reports.CASE SUMMARYWe 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).CONCLUSIONOur 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.