Ouvrier Robert, Billson Frank
Department of Neurology, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, Sydney, NSW 2145, Australia.
Brain Dev. 2005 Apr;27(3):185-8. doi: 10.1016/j.braindev.2004.02.016.
Ouvrier and Billson (1988) were apparently the first to describe this entity. In the four original cases, the clinical features were as follows: (1) onset usually under 1 year of age, (2) episodes of variably sustained conjugate upward deviation of the eyes, with neck flexion (chin down) apparently compensating for the abnormal eye position, (3) downbeating saccades in attempted downgaze, (4) normal horizontal eye movements, (5) diurnal fluctuation of symptoms, (6) frequent relief by sleep, (7) exacerbation with febrile illnesses, (8) varying degrees of ataxia, (9) neurological examination usually otherwise normal, (10) absence of deterioration during long-term follow-up, (11) eventual improvement, (12) usually negative investigations, including imaging, EEG and CSF neurotransmitters. As of 2002, 49 cases have been reported. Aetiological factors have included autosomal dominant inheritance in four families, foetal exposure to sodium valproate in three cases, and structural lesions in five (hypomyelination x 2, periventricular leukomalacia, Vein of Galen malformation, pinealoma). Only a few cases have responded to L-dopa. The pathophysiology is still not understood. The outcome appears to be good in about half the cases. Ataxia, borderline cognitive abilities and residual minor oculomotor disorders are seen in the remainder.
奥夫里尔和比尔森（1988年）显然是首个描述该病症的人。在最初的4例病例中，临床特征如下：（1）发病通常在1岁以下；（2）双眼出现持续时间不一的共轭性向上偏斜，颈部屈曲（下巴向下）显然是为了代偿异常的眼位；（3）试图向下注视时出现下跳性扫视；（4）水平眼动正常；（5）症状存在日波动；（6）睡眠常可缓解症状；（7）发热性疾病会使症状加重；（8）存在不同程度的共济失调；（9）神经系统检查通常在其他方面正常；（10）长期随访期间无病情恶化；（11）最终病情改善；（12）各项检查通常为阴性，包括影像学检查、脑电图和脑脊液神经递质检查。截至2002年，已报告49例病例。病因包括4个家族的常染色体显性遗传、3例胎儿期接触丙戊酸钠以及5例结构性病变（2例髓鞘形成不足、脑室周围白质软化、大脑大静脉畸形、松果体瘤）。只有少数病例对左旋多巴有反应。其病理生理学仍不清楚。大约一半病例的预后似乎良好。其余病例可见共济失调、边缘性认知能力以及残留的轻微眼球运动障碍。
