Arts syndrome: a case report and literature review / 中华实用儿科临床杂志

ABSTRACT

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.