Peng Xia, Xia Li-Ping, Zhang Hai-Ju, Zhang Jing, Yu Shi-Qian, Wang Shun, Xu Yu-Ming, Yao Baozhen, Ye Jingping
Department of Pediatrics, Renmin Hospital of Wuhan University, Wuhan, China.
Front Pediatr. 2022 Mar 9;10:771374. doi: 10.3389/fped.2022.771374. eCollection 2022.
Type 50 early infantile epileptic encephalopathy, or EIEE-50 for short, is an autosomal recessive genetic disorder resulting from CAD mutations. So far, little has been reported on the disease. In this article, we will discuss the case of a male infant who is 8 years and 5 months old. A whole-exome sequencing of the boy revealed CAD compound heterozygous mutations. He suffered from global developmental delay and regression, refractory epilepsy, and anemia. After his diagnosis, we used uridine treatment and gained encouraging results. In this article, we will analyze our case studies in the context of the literature, so as to improve pediatricians' understanding of the disease.
50型早期婴儿癫痫性脑病，简称EIEE - 50，是一种由CAD基因突变引起的常染色体隐性遗传病。迄今为止，关于该疾病的报道甚少。在本文中，我们将讨论一名8岁5个月大男婴的病例。对该男孩进行的全外显子组测序显示存在CAD复合杂合突变。他患有全面发育迟缓与倒退、难治性癫痫和贫血。确诊后，我们采用尿苷治疗并取得了令人鼓舞的结果。在本文中，我们将结合文献分析我们的病例研究，以提高儿科医生对该疾病的认识。
