Apak R A, Topçu M
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Eur J Paediatr Neurol. 1999;3(3):129-31. doi: 10.1016/s1090-3798(99)90101-0.
Paroxysmal tonic upgaze of childhood is a rare, distinctive, childhood syndrome that may be associated with ataxia and sometimes strabismus or amblyopia. Neurological examination as well as metabolic studies, electroencephalogram and neuroradiological investigations are normal in these patients. Although it has been considered as an age-related, dopa-sensitive dystonia, the exact pathogenetic mechanism is still unknown. Aggravation of attacks by fatigue, intercurrent infection or vaccination, and possible corticomesencephalic dysmaturation may underlie this abnormality. We report on a sporadic case of paroxysmal tonic upgaze with ataxia in which there was prompt aggravation of symptoms with sleep without response to levodopa treatment. This case suggests a different underlying pathogenetic mechanism from dopaminergic pathways for this syndrome.
儿童阵发性强直性上视是一种罕见的、独特的儿童综合征，可能与共济失调有关，有时还伴有斜视或弱视。这些患者的神经系统检查以及代谢研究、脑电图和神经放射学检查均正常。尽管它被认为是一种与年龄相关的、对多巴敏感的肌张力障碍，但其确切的发病机制仍不清楚。疲劳、并发感染或接种疫苗会使发作加重，以及可能存在的皮质中脑发育不成熟可能是这种异常的基础。我们报告一例伴有共济失调的散发性儿童阵发性强直性上视病例，其症状在睡眠时迅速加重，对左旋多巴治疗无反应。该病例提示该综合征的潜在发病机制与多巴胺能通路不同。
