Stark K L, Gibson J B, Hertle R W, Brodsky M C
Department of Ophthalmology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Am J Ophthalmol. 2000 Oct;130(4):533-5. doi: 10.1016/s0002-9394(00)00569-9.
To document the evolution of ocular motor abnormalities in an infant with carbohydrate-deficient glycoprotein syndrome.
Case report. An infant with carbohydrate-deficient glycoprotein syndrome type 1a underwent magnetic resonance imaging and infrared eye movement recording.
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 vestibulo-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.
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.
记录1例糖蛋白缺乏综合征婴儿眼动异常的演变过程。
病例报告。对1例1a型糖蛋白缺乏综合征婴儿进行磁共振成像和红外眼动记录。
1例10个月大的1a型糖蛋白缺乏综合征男性婴儿，在受到惊吓或从睡眠中醒来时出现快速的眼球水平摆动。临床检查证实了这一发现，并发现先天性眼动失用伴前庭眼反射减弱。红外眼动记录显示眼球扑动和方波急跳叠加在水平钟摆样眼球震颤上。磁共振成像显示弥漫性小脑发育不全。
1a型糖蛋白缺乏综合征可伴有多种小脑性眼征，包括眼球扑动、方波急跳和先天性眼动失用。
