Sedel F, Barnerias C, Dubourg O, Desguerres I, Lyon-Caen O, Saudubray Jean-Marie
Federation of Nervous System Diseases, Salpêtrière Hospital, 47 Boulevard de l'Hôpital, 75651, Paris cedex 13, France.
J Inherit Metab Dis. 2007 Oct;30(5):642-53. doi: 10.1007/s10545-007-0684-x. Epub 2007 Sep 21.
Although they are classically viewed as paediatric diseases, it is now recognized that inborn errors of metabolism (IEMs) can present at any age from childhood to adulthood. IEMs can involve the peripheral nervous system, mostly as part of a more diffuse neurological or systemic clinical picture. However, in some cases, the neuropathy can be the unique initial sign. Here, based on our personal experience and on a comprehensive literature analysis, we review IEMs causing neuropathies in adults. Diseases were classified according to the predominant type of neuropathies into (1) acute neuropathies, (2) mononeuropathy multiplex, (3) chronic axonal polyneuropathies, (4) chronic demyelinating polyneuropathies, (5) small-fibre neuropathies, and (6) lower motor neuron disease.
虽然传统上认为先天性代谢缺陷(IEMs)是儿科疾病,但现在人们认识到,从儿童到成人的任何年龄段都可能出现IEMs。IEMs可累及周围神经系统,大多作为更弥漫性神经或全身临床表现的一部分。然而,在某些情况下,神经病变可能是唯一的初始症状。在此,基于我们的个人经验和全面的文献分析,我们回顾了导致成人神经病变的IEMs。根据神经病变的主要类型,将疾病分为:(1)急性神经病变;(2)多发性单神经病;(3)慢性轴索性多发性神经病;(4)慢性脱髓鞘性多发性神经病;(5)小纤维神经病;(6)下运动神经元病。