McDonald C M
National Institute of Rehabilitation Research, Neuromuscular Disease Rehabilitation Research and Training Center, Department of Physical Medicine and Rehabilitation, University of California Davis Medical Center, Sacramento, California, USA.
Phys Med Rehabil Clin N Am. 2001 May;12(2):473-90.
This article has provided a brief overview of the most common inherited and acquired peripheral nerve diseases encountered in childhood. The diagnostic approach of peripheral neuropathies in children often relies on some combination of careful history taking, physical examination findings, a careful determination of family history, electrodiagnostic studies, molecular genetic studies, sural nerve biopsy, and occasionally metabolic laboratory studies. Although pediatric mononeuropathies may have different causes than those observed in adults, the clinical presentations, diagnostic evaluation, and management of mononeuropathies are frequently similar in adults and children. Encouraging progress is being made in the management of acute inflammatory demyelinating polyneuropathy (AIDP), which is the most common acquired neuropathy of childhood. Rapid advances in molecular genetics over the past decade have had a significant impact on our diagnostic approach to hereditary motor sensory neuropathy in particular. In the future it is likely that the sequencing of genes, characterization of protein structure and function, and further elucidation of pathophysiology will have significant impacts on the treatment of many inherited peripheral neuropathies of childhood.
本文简要概述了儿童期最常见的遗传性和获得性周围神经疾病。儿童周围神经病的诊断方法通常依赖于详细的病史采集、体格检查结果、家族史的仔细确定、电诊断研究、分子遗传学研究、腓肠神经活检，偶尔还需要进行代谢实验室检查等多种方法的结合。尽管儿童单神经病的病因可能与成人不同，但其临床表现、诊断评估和治疗在成人和儿童中通常相似。在急性炎症性脱髓鞘性多发性神经病（AIDP）的治疗方面正在取得令人鼓舞的进展，AIDP是儿童期最常见的获得性神经病。过去十年分子遗传学的快速发展尤其对我们诊断遗传性运动感觉神经病的方法产生了重大影响。未来，基因测序、蛋白质结构和功能的表征以及病理生理学的进一步阐明可能会对许多儿童遗传性周围神经病的治疗产生重大影响。
