Joubert Syndrome Presented with Ocular Motor Apraxia.
- Author:
Eun Hee CHO
1
;
Yong Sik KIM
;
Yong Han JIN
Author Information
1. Department of ophthalmology, College of Medicine, University of Ulsan, Asan Medical Center, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Agenesis of the cerebellar vermis;
Joubert syndrome;
Ocular motor apraxia
- MeSH:
Apnea;
Apraxias*;
Ataxia;
Eye Movements;
Korea
- From:Journal of the Korean Ophthalmological Society
1995;36(12):2276-2281
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Agenesis of the cerebellar vermis, episodic hyperpnea alternating with apnea, abnormal eye movement, ataxia, and psychomotor retardation are shown in Joubert syndrome. This rare syndrome is inherited as an autosomal recessive trait with variable expression. We report the first cases of Joubert syndrome in Korea, to our knowledge, which showed ocular motor apraxia and agenesis of the cerebellar vermis by Magnetic Resornance Image. From these two cases, we describe the correlation between the cerebellar vermian dysfunction and the ocular motor apraxia.
