Ruggieri Víctor L, Arberas Claudia L
Hospital de Pediatria SAMIC. Prof. Dr. J.P. Garrahan, Buenos Aires, Argentina.
Rev Neurol. 2013 Sep 6;57 Suppl 1:S105-14.
Paroxysmal events in childhood are a challenge for pediatric neurologists, given its highly heterogeneous clinical manifestations, often difficult to distinguish between phenomena of epileptic seizure or not. The non-epileptic paroxysmal episodes are neurological phenomena, with motor, sensory symptoms, and/or sensory impairments, with or without involvement of consciousness, epileptic phenomena unrelated, so no electroencephalographic correlative expression between or during episodes. From the clinical point of view can be classified into four groups: motor phenomena, syncope, migraine (and associated conditions) and acute psychiatric symptoms. In this paper we analyze paroxysmal motor phenomena in awake children, dividing them according to their clinical manifestations: extrapyramidal episodes (paroxysmal kinesiogenic, non kinesiogenic and not related to exercise dyskinesias, Dopa responsive dystonia) and similar symptoms of dystonia (Sandifer syndrome); manifestations of startle (hyperekplexia); episodic eye and head movements (benign paroxysmal tonic upward gaze nistagmus deviation); episodic ataxia (familial episodic ataxias, paroxysmal benign vertigo); stereotyped and phenomena of self-gratification; and myoclonic events (benign myoclonus of early infancy). The detection of these syndromes will, in many cases, allow an adequate genetic counseling, initiate a specific treatment and avoid unnecessary additional studies. Molecular studies have demonstrated a real relationship between epileptic and non-epileptic basis of many of these entities and surely the identification of the molecular basis and understanding of the pathophysiological mechanisms in many of them allow us, in the near future will benefit our patients.
儿童期的发作性事件对儿科神经科医生来说是一项挑战,因为其临床表现高度异质性,常常难以区分是否为癫痫发作现象。非癫痫性发作性事件是神经现象,伴有运动、感觉症状和/或感觉障碍,有意识参与或无,与癫痫现象无关,因此发作期间或发作之间无脑电图相关表现。从临床角度可分为四类:运动现象、晕厥、偏头痛(及相关病症)和急性精神症状。在本文中,我们分析清醒儿童的发作性运动现象,根据其临床表现进行分类:锥体外系发作(发作性运动诱发性、非运动诱发性和与运动障碍无关的运动障碍、多巴反应性肌张力障碍)和类似肌张力障碍的症状(Sandifer综合征);惊吓表现(僵人综合征);发作性眼和头部运动(良性发作性强直性上视眼球震颤偏斜);发作性共济失调(家族性发作性共济失调、发作性良性眩晕);刻板动作和自我满足现象;以及肌阵挛事件(婴儿早期良性肌阵挛)。在许多情况下,这些综合征的检测将有助于进行充分的遗传咨询、启动特定治疗并避免不必要的额外检查。分子研究已证明其中许多实体的癫痫性和非癫痫性基础之间存在实际关联,而且确定其中许多实体的分子基础并理解其病理生理机制肯定会在不久的将来使我们的患者受益。