Ocular motor signs in an infant with carbohydrate-deficient glycoprotein syndrome type Ia

被引：11
|
作者：
Stark, KL
Gibson, JB
Hertle, RW
Brodsky, MC
机构：
[1] Univ Arkansas Med Sci, Dept Ophthalmol, Little Rock, AR 72205 USA
[2] Univ Arkansas Med Sci, Dept Pediat, Little Rock, AR 72205 USA
[3] NEI, Sensorimotor Res Lab, NIH, Washington, DC USA
来源：
AMERICAN JOURNAL OF OPHTHALMOLOGY | 2000年 / 130卷 / 04期
关键词：
D O I：
10.1016/S0002-9394(00)00569-9
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
PURPOSE: To document the evolution of ocular motor abnormalities in an infant with carbohydrate-deficient glycoprotein syndrome. METHODS: Case report. An infant with carbohydrate-deficient glycoprotein syndrome type la underwent magnetic resonance imaging and infrared eye movement recording. RESULTS: A 10-month-old male with carbohydrate-deficient glycoprotein syndrome type Ia had rapid horizontal oscillations of the eyes when startled or awakened from sleep. Clinical examination confirmed this finding and disclosed congenital ocular motor apraxia with a reduced vestibule-ocular reflex. Infrared eye movement recording showed ocular flutter and square wave jerks superimposed on a horizontal pendular nystagmus, Magnetic resonance imaging showed diffuse cerebellar hypoplasia. CONCLUSION: Carbohydrate-deficient glycoprotein syndrome type Ia can be associated with multiple cerebellar eye signs including ocular flutter, square-wave jerks, and congenital ocular motor apraxia. (C) 2000 by Elsevier Science Inc.
引用
收藏
页码：533 / 535
页数：3
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