先天性眼运动失用症。

A R Fielder, M A Gresty, K L Dodd, D H Mellor, M I Levene
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引用次数: 0

摘要

本文报告9例先天性眼运动失用症(COMA),并分析其自然病程。两个呈现在婴儿期早期,头推力的发作之前,并在这个年龄建立诊断的手段进行了讨论。所有人在婴儿期都表现出运动迟缓,随着时间的推移,运动迟缓有所减轻,但没有完全消除。概念延迟,尤其是语言方面的延迟,影响到所有儿童早期。3例胼胝体发育不全,2例小脑异常。一名婴儿尸检显示小脑皮质发育不良。昏迷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不良的标志,而不是昏迷机制的组成部分。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Congenital ocular motor apraxia.

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.

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