Arzimanoglou A A, Salefranque F, Goutières F, Aicardi J
Child Neurology and Metabolic Diseases Dpt., Hôpital Robert-Debré, Paris, France.
Epileptic Disord. 1999 Jun;1(2):121-5.
A child with Goldenhar's syndrome presented at about one week of age with stereotyped, repetitive paroxysmal episodes of hemifacial contraction, suggestive of partial seizures or hemifacial spasm. Later in life he also developed independent, permanent abnormal eye and chin movements identical in rhythm to those seen in myorhythmias, suggesting involvement of the dentato-olivary pathway. MRI demonstrated a hamartomatous lesion at the level of the pontomedullary junction. We speculate that the nature of the lesion could be responsible for the partial seizures mimicking hemifacial spasm and that because of its location, this same lesion could also be implicated in the genesis of myorhythmias. The presence of a hamartomatous lesion in a region affected by the abnormal development of the first and second branchial arches is not fortuitous.
一名患有Goldenhar综合征的儿童在出生后约一周时出现刻板、重复性的半侧面部收缩阵发性发作，提示为部分性癫痫发作或半面痉挛。在其后期生活中，他还出现了与肌节律异常中所见节律相同的独立、永久性异常眼球和下巴运动，提示齿状核-橄榄体通路受累。MRI显示在脑桥延髓交界处水平有一个错构瘤样病变。我们推测，该病变的性质可能是导致模仿半面痉挛的部分性癫痫发作的原因，并且由于其位置，这个相同的病变也可能与肌节律异常的发生有关。在受第一和第二鳃弓异常发育影响的区域出现错构瘤样病变并非偶然。
