Maruyama Koichi, Ogaya Shunsuke, Kurahashi Naoko, Umemura Ayako, Yamada Keitaro, Hashiguchi Akihiro, Takashima Hiroshi, Torres Rosa J, Aso Kosaburo
Department of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Kasugai, Japan.
Department of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Kasugai, Japan.
Brain Dev. 2016 Nov;38(10):954-958. doi: 10.1016/j.braindev.2016.05.003. Epub 2016 May 30.
Arts syndrome is characterized by early-onset hypotonia, ataxia, intellectual disability, sensorineural hearing impairment, progressive optic atrophy, and a tendency to develop infections. Arts syndrome is an X-linked disorder caused by a loss-of-function mutation in the PRPS1 gene, which encodes phosphoribosylpyrophosphate synthetase 1. Only three families have been reported. Here, we report another family with Arts syndrome. The initial symptoms of the 1-year-old proband were hypotonia and ataxia, worsening recurrent infection-triggered muscle weakness, motor and intellectual developmental delay, and hearing loss. Both central nervous system involvement and peripheral neuropathy were demonstrated. His three maternal uncles had died before the age of 3years. A genetic analysis of PRPS1 revealed a novel missense mutation, c.367C>G (p.His123Asp). PRPS enzymatic activity was markedly reduced in the patient. His mother was supposed to be an asymptomatic carrier. Arts syndrome should be included in the differential diagnosis of infantile hypotonia and weakness aggravated by recurrent infection with a family history of X-linked inheritance.
阿茨综合征的特征为早发性肌张力减退、共济失调、智力残疾、感音神经性听力障碍、进行性视神经萎缩以及易发生感染的倾向。阿茨综合征是一种X连锁疾病，由PRPS1基因的功能丧失性突变引起，该基因编码磷酸核糖焦磷酸合成酶1。此前仅报道过三个家系。在此，我们报告另一个患有阿茨综合征的家系。该1岁先证者的初始症状为肌张力减退和共济失调，因反复感染引发的肌肉无力、运动和智力发育迟缓以及听力丧失不断加重。中枢神经系统受累和周围神经病变均有表现。他的三个舅舅均在3岁前去世。对PRPS1的基因分析发现了一个新的错义突变，即c.367C>G（p.His123Asp）。患者体内PRPS酶活性显著降低。他的母亲被认为是无症状携带者。对于有X连锁遗传家族史、反复感染后加重的婴儿肌张力减退和肌无力，鉴别诊断时应考虑阿茨综合征。
