Garcia-Cazorla A, Duarte S T
Department of Neurology, Hospital Sant Joan de Déu (HSJD), Barcelona, Spain,
J Inherit Metab Dis. 2014 Jul;37(4):627-42. doi: 10.1007/s10545-014-9723-6. Epub 2014 Jun 7.
Parkinsonism is a frequent neurological syndrome in adulthood but is very rare in childhood. Early forms of Parkinsonism have many distinctive features as compared to Parkinsonism in adults. In fact, rather than Parkinsonism, the general concept "hypokinetic-rigid syndrome" (HRS) is more accurate in children. In general, the terms "dystonia-parkinsonism", "parkinsonism-plus", or "parkinsonism-like" are preferred to designate these forms of paediatric HRS. Inborn errors of metabolism (IEM) constitute an important group amongst the genetic causes of Parkinsonism at any age. The main IEM causing Parkinsonism are metal-storage diseases, neurotransmitter defects, lysosomal storage disorders and energy metabolism defects. IEM should not be neglected as many of them represent treatable causes of Parkinsonism. Here we review IEMs causing this neurological syndrome and propose diagnostic approaches depending on the age of onset and the associated clinical and neuroimaging features.
帕金森综合征在成年人中是一种常见的神经综合征，但在儿童中非常罕见。与成人帕金森综合征相比，早期形式的帕金森综合征有许多独特的特征。事实上，对于儿童来说，“运动减少-强直综合征”（HRS）这一总体概念比帕金森综合征更准确。一般来说，“肌张力障碍-帕金森综合征”“帕金森叠加综合征”或“帕金森样综合征”这些术语更适合用来指代这些儿童期HRS形式。在任何年龄，先天性代谢缺陷（IEM）都是帕金森综合征遗传病因中的一个重要类别。导致帕金森综合征的主要IEM包括金属贮积病、神经递质缺陷、溶酶体贮积症和能量代谢缺陷。IEM不应被忽视，因为它们中的许多代表了可治疗的帕金森综合征病因。在此，我们综述导致这种神经综合征的IEM，并根据发病年龄以及相关的临床和神经影像学特征提出诊断方法。
