Fielder A R, Gresty M A, Dodd K L, Mellor D H, Levene M I
Trans Ophthalmol Soc U K (1962). 1986;105 ( Pt 5):589-98.
Nine patients with congenital ocular motor apraxia (COMA) are presented and the natural history of this condition is considered. Two presented in early infancy, before the onset of the head thrust, and the means of establishing the diagnosis at this age are discussed. All exhibited motor delay in infancy which lessened, but did not completely resolve, with time. Conceptual delay, particularly with speech, affected all in early childhood. Three had agenesis of the corpus callosum and 2 cerebellar abnormalities. The autopsy of one infant showed cerebellar cortical dysplasia. The pathogenesis of COMA remains unknown and it is possible that agenesis of the corpus callosum and cerebellar hypoplasia are markers indicative of early CNS maldevelopment and not an integral part of the mechanism of COMA.
本文报告了9例先天性眼球运动失用症（COMA）患者，并探讨了该病的自然病程。2例在婴儿早期、头部前冲动作出现之前就已发病，讨论了在这个年龄段确立诊断的方法。所有患者在婴儿期均表现出运动发育迟缓，随着时间推移有所减轻，但并未完全消失。在幼儿期，所有患者均出现概念发育迟缓，尤其是语言方面。3例患者存在胼胝体发育不全，2例有小脑异常。1例婴儿的尸检显示小脑皮质发育异常。COMA的发病机制尚不清楚，胼胝体发育不全和小脑发育不全可能是早期中枢神经系统发育异常的标志，而非COMA发病机制的组成部分。
