J Korean Ophthalmol Soc.  1996 Jul;37(7):1236-1240.

Congenital Ocular Motor Apraxia without Head Thrusts: A Case of Joubert Syndrome

Affiliations
  • 1Department of Ophthalmology, Kangbuk Samsung Hospital, Seoul, Korea.

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.

Keyword

Agenesis of cerebellar vermis; Joubert syndrome; Ocular motor apraxla

MeSH Terms

Apraxias*
Ataxia
Brain
Child
Diagnosis
Electroretinography
Evoked Potentials, Visual
Head*
Humans
Magnetic Resonance Imaging
Neck
Retinal Dystrophies
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