Arts综合征1例并文献复习

Arts syndrome:a case report and literature review

目的探讨Arts综合征患儿的临床和基因型特点。方法回顾性分析南京医科大学附属儿童医院神经内科确诊的1例Arts综合征患儿的临床资料,并复习相关文献。结果患儿,男,1岁5个月。自幼听力丧失,运动发育落后,肌张力低下,曾在1岁3个月发生肺炎时出现呼吸衰竭。肌电图提示多发性周围神经源性损害肌电改变,视觉诱发电位正常,基因测序提示PRPS1基因c.421C>T(p.P141S)半合子错义突变,确诊Arts综合征。康复治疗后运动发育改善。检索到英文文献4篇共14例Arts综合征患者,包含4种基因型,均为错义突变,主要表现与本患儿相似。结论Arts综合征是由PRPS1突变所致的X-连锁隐性遗传性疾病,临床表型复杂,本研究发现的新发错义突变c.421C>T扩大了PRPS1基因突变谱。

Objective To investigate the clinical and genetic features of children with Arts syndrome.Methods The clinical features of a child with Arts syndrome diagnosed in Department of Neurology,Children′s Hospital of Nanjing Medical University were retrospectively analyzed.Relevant literatures about Arts syndromes were reviewed as well.Results It was a 17-month-old boy with initial symptoms of hearing loss after birth,delayed motor development and early-onset hypotonia.At the age of 15 months old,the boy had respiratory failure due to pneumonia.Electromyographic suggested multiple peripheral neurogenic lesions.Visual evoked potentials were normal.Gene sequencing of PRPS1 of the boy revealed a novel hemizygous missense c.421C>T(p.P141S)hemizygote missense mutation,and therefore,the boy was diagnosed as Arts syndrome.Motor development improved after rehabilitation treatment.Through literature review,14 children with Arts syndrome,including 4 genotypes of missense mutations were reviewed in 4 English-published literatures.These cases had similar manifestations with the case reported in this study.Conclusions Arts syndrome is a rare X-linked recessive inheritant disorder caused by PRPS1 mutations with complex clinical phenotypes.The novel missense mutation c.421C>T found in this study expands the PRPS1 gene mutation profile.