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点头痉挛与伴有小脑蚓部发育不全的先天性眼球运动失用症。

Spasmus nutans and congenital ocular motor apraxia with cerebellar vermian hypoplasia.

作者信息

Kim Ji Soo, Park Sung-Ho, Lee Kwang-Woo

机构信息

Department of Neurology, College of Medicine, Seoul National University, Seoul, South Korea.

出版信息

Arch Neurol. 2003 Nov;60(11):1621-4. doi: 10.1001/archneur.60.11.1621.

Abstract

BACKGROUND

Spasmus nutans and congenital ocular motor apraxia share clinical characteristics. However, their development in a patient with cerebellar vermian hypoplasia has not been previously described.

OBJECTIVE

To report spasmus nutans and congenital ocular motor apraxia in a child with cerebellar vermian hypoplasia.

DESIGN

Case report.

SETTING

Tertiary-care hospital. Patient A 7-year-old boy with a history of spasmus nutans during infancy and developmental delay was referred for the evaluation of abnormal head and eye movements.

RESULTS

The patient had impaired voluntary saccades and smooth pursuit in the horizontal plane and showed thrusting movements of the head during attempted gaze shift. Magnetic resonance imaging of the brain demonstrated cerebellar vermian hypoplasia, especially in the inferior portion.

CONCLUSIONS

Spasmus nutans and congenital ocular motor apraxia may develop in patients with cerebellar vermian hypoplasia. In patients with congenital ocular motor apraxia, a history of spasmus nutans should be sought, and careful evaluation of the cerebellar vermis is needed during brain imaging.

摘要

背景

点头痉挛和先天性眼球运动失用症具有共同的临床特征。然而,此前尚未有人描述过它们在小脑蚓部发育不全患者中的发展情况。

目的

报告一名患有小脑蚓部发育不全儿童的点头痉挛和先天性眼球运动失用症。

设计

病例报告。

地点

三级医疗医院。患者是一名7岁男孩,婴儿期有点头痉挛病史且发育迟缓,因头部和眼球运动异常前来接受评估。

结果

该患者在水平面的随意扫视和平滑跟踪功能受损,在试图转移注视时头部出现推挤动作。脑部磁共振成像显示小脑蚓部发育不全,尤其是在下部。

结论

小脑蚓部发育不全患者可能会出现点头痉挛和先天性眼球运动失用症。对于先天性眼球运动失用症患者,应询问其是否有过点头痉挛病史,并且在脑部成像时需要仔细评估小脑蚓部。

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