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首页> 外文期刊>European journal of paediatric neurology: EJPN : official journal of the European Paediatric Neurology Society >Hypokinetic-rigid syndrome in children and inborn errors of metabolism.
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Hypokinetic-rigid syndrome in children and inborn errors of metabolism.

机译：小儿低动能综合征和先天性代谢错误。

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Hypokinetic-rigid syndrome (HRS) or "parkinsonism" is rare in children. From a clinical point of view it is characterised by a group of signs in which hypokinesia (decreased number of movements), bradykinesia (slowness of movements), rigidity and rest tremor are the fundamental traits. Nervous system infections, immunomediated encephalitis, hypoxia and some drugs have been described as acquired or secondary causes of HRS in the paediatric age. Inborn errors of metabolism (IEM) comprise and important group regarding genetic causes. Main diseases causing HRS in children are neurotransmitter (biogenic amines) defects, metal storage diseases, energy metabolism disorders and lysosomal diseases. In general, in IEM, the HRS is associated to other neurological signs such as dykinesias, pyramidal signs, and psychomotor delay, is very rare in the neonatal period, tends to be more frequent in advanced stages of progressive diseases, and may respond to specific therapies. In particular, l-dopa + carbidopa can be a very effective treatment in neurotransmitter defects, whereas other disorders such as Wilson disease and some particular lysosomal disorders have different therapeutic possibilities. Furthermore, other genetic conditions in dopa-responsive and non-responsive HRS should be also considered, especially in juvenile parkinsonism. Through this review, a practical orientation for paediatric neurologists concerning clinical clues, diagnostic procedure and treatment of metabolic HRS will be provided.
机译：刚体运动障碍综合征（HRS）或“帕金森氏症”在儿童中很少见。从临床的角度来看，其特征在于一组体征，其中运动不足（运动次数减少），运动迟缓（运动缓慢），僵硬和静息震颤是基本特征。在小儿年龄段，神经系统感染，免疫介导的脑炎，缺氧和某些药物被描述为HRS的获得性或继发性原因。关于遗传原因，先天性代谢错误（IEM）构成重要的一类。导致儿童HRS的主要疾病是神经递质（生物胺）缺陷，金属储存疾病，能量代谢异常和溶酶体疾病。一般而言，在IEM中，HRS与其他神经系统症状有关，例如运动障碍，锥体束症状和精神运动延迟，在新生儿期非常罕见，在进行性疾病的晚期往往更常见，并且可能对特定疾病有反应疗法。特别是，l-多巴+卡比多巴可以有效治疗神经递质缺陷，而其他疾病（例如Wilson病）和某些特定的溶酶体疾病则具有不同的治疗可能性。此外，还应考虑多巴反应性和非反应性HRS的其他遗传状况，尤其是在青少年帕金森病中。通过这篇综述，将为小儿神经科医师提供有关临床线索，诊断程序和代谢性HRS治疗的实用指导。

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