Pitt Matthew
Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children, London, UK.
Dev Med Child Neurol. 2008 May;50(5):328-33. doi: 10.1111/j.1469-8749.2008.02038.x. Epub 2008 Feb 28.
The disorders of the neuromuscular junction seen in children, the congenital myasthenic syndromes and autoimmune myasthenia gravis, are very rare. Their clinical symptoms and signs may be variable, most notably in the neonate and infant. They should enter the differential diagnosis of many different clinical presentations, such as 'floppy infant' or attacks of episodic apnoea. Many molecular genetic abnormalities have been discovered in congenital myasthenic syndromes, but screening for these is impracticable without confirmation of a disorder of the neuromuscular junction. In this review, the different neurophysiological tests that can be used are discussed, with their merits and contraindications in children. After consideration of the acceptability of the different techniques, it has been found that stimulation single-fibre electromyography (stimSFEMG) of orbicularis oculi seems to be the best choice in children. In most instances it can be performed on the conscious child and it has a good specificity and high sensitivity. A protocol for using stimSFEMG is described.
儿童中出现的神经肌肉接头疾病，即先天性肌无力综合征和自身免疫性重症肌无力，非常罕见。它们的临床症状和体征可能各不相同，在新生儿和婴儿中尤为明显。它们应纳入许多不同临床表现的鉴别诊断，如“松软婴儿”或发作性呼吸暂停发作。先天性肌无力综合征中已发现许多分子遗传异常，但在未确认神经肌肉接头疾病的情况下，对这些异常进行筛查是不切实际的。在这篇综述中，讨论了可用于儿童的不同神经生理学检查方法，以及它们的优缺点和禁忌证。在考虑了不同技术的可接受性之后，发现眼轮匝肌的刺激单纤维肌电图（stimSFEMG）似乎是儿童的最佳选择。在大多数情况下，可以在清醒的儿童身上进行，它具有良好的特异性和高敏感性。本文描述了使用stimSFEMG的方案。
