Shabo George, Pasman Jaco W, van Alfen Nens, Willemsen Michèl A A P
Department of Pediatric Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Pediatr Neurol. 2007 Jun;36(6):393-6. doi: 10.1016/j.pediatrneurol.2007.02.013.
Only a few studies have been reported describing polyneuropathies in a series of children. To study the clinical and neurophysiological spectrum of polyneuropathies in a large series of children and obtain an overview of their etiologies, this retrospective study reevaluated all electromyograms and electrophysiologic studies performed between 1995 and 2004 in children under 17 years of age at the Radboud University Nijmegen Medical Center, a tertiary neuromuscular reference center. Electromyograms revealing polyneuropathy were selected for further analysis (n = 118), and the medical records were reviewed to supplement electromyographic findings with the clinical diagnosis. Hereditary polyneuropathies made up 68% of the total, and 54% of these were isolated polyneuropathies; in the remaining 46%, polyneuropathy was part of a more complex disorder. The acquired polyneuropathies were primarily inflammatory. Nerve biopsies had been performed in 22 of the 118 cases (19%) and led to a diagnosis in 4 cases. Despite sophisticated investigation, 11 cases (9%) remained unclassified for underlying cause. Hereditary motor and sensory neuropathies are the most common type of polyneuropathy in childhood, followed by polyneuropathies as part of an inborn error of metabolism and inflammatory polyneuropathies (in patients in whom electromyography was used to diagnose the neuropathy). In the full series of patients, nerve biopsy did not play a prominent role in the diagnostic work-up of childhood polyneuropathies, due to the increasing availability of other laboratory (genetic and metabolic) diagnostic tools. Nerve biopsy nonetheless proved to have an important diagnostic yield in selected, complex cases.
仅有少数研究报告描述了一系列儿童的多发性神经病。为了研究大量儿童多发性神经病的临床和神经生理学特征，并全面了解其病因，这项回顾性研究重新评估了1995年至2004年间在拉德堡德大学奈梅亨医学中心（一家三级神经肌肉转诊中心）对17岁以下儿童进行的所有肌电图和电生理检查。选择显示多发性神经病的肌电图进行进一步分析（n = 118），并查阅病历以用临床诊断补充肌电图检查结果。遗传性多发性神经病占总数的68%，其中54%为孤立性多发性神经病；在其余46%中，多发性神经病是更复杂疾病的一部分。后天性多发性神经病主要为炎症性。118例中有22例（19%）进行了神经活检，4例得以确诊。尽管进行了复杂的检查，仍有11例（9%）病因未分类。遗传性运动和感觉神经病是儿童期最常见的多发性神经病类型，其次是作为先天性代谢缺陷一部分的多发性神经病和炎症性多发性神经病（在使用肌电图诊断神经病的患者中）。在整个患者系列中，由于其他实验室（基因和代谢）诊断工具的可用性增加，神经活检在儿童多发性神经病的诊断检查中未发挥突出作用。尽管如此，神经活检在选定的复杂病例中被证明具有重要的诊断价值。
