首诊为Usher综合征的轻型Zellweger谱系障碍1例

A case of mild Zellweger spectrum disorder first diagnosed as Usher syndrome

患儿女性,5岁,因“夜盲、听力差1年”就诊,因视网膜色素变性合并感音神经性耳聋,首诊为Usher综合征。目标区域捕获测序分析发现患儿携带Zellweger谱系障碍致病基因PEX1复合杂合变异c.5G>A,p.W2*/c.3022C>T,p.P1008S。后期随访发现患儿恒牙釉质发育不良,指甲白斑,过氧化物酶体功能生化异常,诊断为轻型Zellweger谱系障碍。

A 5‑year‑old female patient,presented with"night blindness and poor hearing for 1 year"whose first diagnosis was Usher syndrome due to retinitis pigmentosa accompanied by sensorineural deafness.Compound heterozygous variants(c.5G>A,p.W2*/c.3022C>T,p.P1008S)of PEX1,the causative gene for Zellweger spectrum disorder was confirmed by targeted exome sequencing analysis.Permanent tooth enamel dysplasia,nail leukoplakia,and biochemical abnormalities of peroxisome which is consistent with mild Zellweger spectrum disorder were found when she followed up.