Ocular motor signs in an infant with carbohydrate-deficient glycoprotein syndrome type Ia.

Abstract

PURPOSE:

To document the evolution of ocular motor abnormalities in an infant with carbohydrate-deficient glycoprotein syndrome.

METHODS:

Case report. An infant with carbohydrate-deficient glycoprotein syndrome type 1a underwent magnetic resonance imaging and infrared eye movement recording.

RESULTS:

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.

CONCLUSION:

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.

• Authors: K L Stark, J B Gibson, R W Hertle, M C Brodsky
• Journal: American journal of ophthalmology (Am J Ophthalmol) Vol. 130 Issue 4 Pg. 533-5 (Oct 2000) ISSN: 0002-9394 [Print] United States
• PMID: 11024435 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Phosphotransferases (Phosphomutases)
• phosphomannomutase

Topics

• Apraxias (diagnosis, etiology)
• Cerebellum (abnormalities)
• Congenital Disorders of Glycosylation (complications, enzymology)
• Eye Movements
• Humans
• Infant
• Magnetic Resonance Imaging
• Male
• Nystagmus, Pathologic (etiology)
• Ocular Motility Disorders (diagnosis, etiology)
• Phosphotransferases (Phosphomutases) (deficiency)
• Reflex, Vestibulo-Ocular