Congenital Ocular Motor Apraxia without Head Thrusts: A Case of Joubert Syndrome.
- Author:
Gae Rang KWON
1
;
Min Seop KIM
;
Hae Ran CHANG
Author Information
1. Department of Ophthalmology, Kangbuk Samsung Hospital, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Agenesis of cerebellar vermis;
Joubert syndrome;
Ocular motor apraxla
- MeSH:
Apraxias*;
Ataxia;
Brain;
Child;
Diagnosis;
Electroretinography;
Evoked Potentials, Visual;
Head*;
Humans;
Magnetic Resonance Imaging;
Neck;
Retinal Dystrophies
- From:Journal of the Korean Ophthalmological Society
1996;37(7):1236-1240
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Joubert syndrome is the very rare autosomal recessive disorder which is including agenesis of cerebellar vermis, respiratory discomfort, ocular motor apraxia, hereditary retinal dystrophy, ataxia and developmental retardation. To diagnose, the findings of electroretinography and visual evoked potential study can be useful and hypoplasia of cerebellar vermis in brain MRI can make certain diagnosis. We found ocular motor apraxia without head thrusts in 4-month little baby can't even control his head and neck, and then his electroretinography and visual evoked potential study was normal and there was agenesis of cerebellar vermis by MRI finding. So he was diagnosed as Joubert syndrome with ocular motor apraxia. Agenesis of cerebellar vermis is considered to be one of the causes of oculomotor apraxia, and the clinical presentation varies with the age and motor development of the child. So, we describe this case with a brief review of the literatures related to this disease.
