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先天性眼球运动失用症。病例报告与文献综述。

Congenital ocular motor apraxia. Case reports and literature review.

作者信息

PeBenito R, Cracco J B

机构信息

Stanley S. Lamm Institute for Child Neurology and Developmental Medicine, Brooklyn, NY 11201.

出版信息

Clin Pediatr (Phila). 1988 Jan;27(1):27-31. doi: 10.1177/000992288802700105.

DOI:10.1177/000992288802700105
PMID:3275520
Abstract

Two children with congenital ocular motor apraxia (C-OMA) associated with congenital malformations of the central nervous system (CNS) are presented, and the literature is reviewed. C-OMA is an abnormality of ocular motility characterized by defective or absent voluntary horizontal gaze, associated with a characteristic head thrust. Although not rare, it is infrequently recognized. C-OMA is not a specific disease entity, but a sign. It may be associated with other static congenital CNS disorders and must be distinguished from acquired ocular motor apraxias (A-OMA) seen in progressive brain disorders and in certain serious systemic diseases. Therefore, when movements typical of C-OMA are observed, a careful systemic and neurologic examination should be performed, including immunoglobulin screening, cranial computerized tomography scanning, and adequate follow-up. Close relatives also should be examined.

摘要

本文报告了两名患有先天性眼球运动失用症(C-OMA)并伴有中枢神经系统(CNS)先天性畸形的儿童,并对相关文献进行了综述。C-OMA是一种眼球运动异常,其特征为随意性水平注视缺陷或缺失,并伴有特征性的头部前冲。虽然并不罕见,但常未被识别。C-OMA不是一种特定的疾病实体,而是一种体征。它可能与其他静态先天性CNS疾病相关,并且必须与在进行性脑部疾病和某些严重全身性疾病中所见的后天性眼球运动失用症(A-OMA)相区分。因此,当观察到典型的C-OMA运动时,应进行仔细的全身和神经系统检查,包括免疫球蛋白筛查、头颅计算机断层扫描以及充分的随访。近亲也应接受检查。

相似文献

1
Congenital ocular motor apraxia. Case reports and literature review.先天性眼球运动失用症。病例报告与文献综述。
Clin Pediatr (Phila). 1988 Jan;27(1):27-31. doi: 10.1177/000992288802700105.
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Congenital ocular motor apraxia with torsional oscillations: a case report.伴有扭转性眼球震颤的先天性眼球运动失用症:一例报告
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Intermittent horizontal saccade failure ('ocular motor apraxia') in children.儿童间歇性水平扫视功能障碍(“眼球运动性失用症”)
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Congenital ocular motor apraxia associated with myopathy, external hydrocephalus and NADH dehydrogenase deficiency.先天性眼球运动失用症伴肌病、外部性脑积水和NADH脱氢酶缺乏症。
Brain Dev. 1998 Apr;20(3):175-8. doi: 10.1016/s0387-7604(98)00009-6.
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Arch Neurol. 1979 Jan;36(1):29-31. doi: 10.1001/archneur.1979.00500370059013.
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引用本文的文献

1
Progressive ataxia associated with ocular apraxia type 1 (AOA1) with a presence of a novel mutation on the aprataxin gene.与1型眼肌失用症(AOA1)相关的进行性共济失调,伴有aprataxin基因上的一个新突变。
Ann Indian Acad Neurol. 2013 Apr;16(2):269-71. doi: 10.4103/0972-2327.112495.
2
Intermittent horizontal saccade failure ('ocular motor apraxia') in children.儿童间歇性水平扫视功能障碍(“眼球运动性失用症”)
Br J Ophthalmol. 1996 Feb;80(2):151-8. doi: 10.1136/bjo.80.2.151.