Clinical Features and Neurologic Progression of Hyperargininemia
Clinical Features and Neurologic Progression of Hyperargininemia
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DOI：
10.1016/j.pediatrneurol.2012.03.016
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发表时间：
2012-06-01
影响因子：
3.8
通讯作者：
Pratesi, Riccardo
中科院分区：
文献类型：
--
作者：
Carvalho, Daniel R.;Brum, Jaime M.;Pratesi, Riccardo
高精氨酸血症是由精氨酸酶i缺乏引起的常染色体隐性代谢性疾病，是一种罕见的泛民族疾病，临床表现与其他尿素循环障碍不同，高氨血症脑病不常见。高精氨酸血症是小儿痉挛性截瘫的少数可治疗的原因之一，可与脑瘫混淆。我们回顾性评估了16例巴西高精氨酸血症患者的临床发病、神经系统表现、异常进展、脑电图异常和实验室结果。详细介绍了高精氨酸血症的临床谱和自然史的相关资料。进行性痉挛性双瘫是本组主要的临床异常，但在我们的研究中，临床表现和进展的可变性是显而易见的。高精氨酸血症引起的癫痫发作可能比以往研究报道的更为常见。区分高精氨酸血症与脑瘫和遗传性痉挛性截瘫的特点强调在这个大系列的病人。(C) 2012爱思唯尔公司版权所有。
Hyperargininemia is an autosomal recessive metabolic disorder caused by a deficiency of enzyme arginase I. It is a rare pan-ethnic disease with a clinical presentation distinct from that of other urea cycle disorders, and hyperammonemic encephalopathy is not usually observed. Hyperargininemia is one of the few treatable causes of pediatric spastic paraparesis, and can be confused with cerebral palsy. We retrospectively evaluated the clinical onset, neurologic manifestations, progression of abnormalities, electroencephalographic abnormalities, and laboratory findings of 16 Brazilian patients with hyperargininemia. Relevant data about the clinical spectrum and natural history of hyperargininemia are detailed. Progressive spastic diplegia constituted the key clinical abnormality in this group, but variability in clinical presentation and progression were evident in our series. Seizures in hyperargininemia may be more common than reported in previous studies. Features distinguishing hyperargininemia from cerebral palsy and hereditary spastic paraplegia are emphasized in this large series of patients. (C) 2012 Elsevier Inc. All rights reserved.