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


CONCLUSIONS
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.
Stark
K L
KL
Department of Ophthalmology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Gibson
J B
JB
Hertle
R W
RW
Brodsky
M C
MC
D001072:Apraxias / Q000175:diagnosis / Q000209:etiology*; D002531:Cerebellum / Q000002:abnormalities*; D018981:Congenital Disorders of Glycosylation / Q000150:complications* / Q000201:enzymology; D005133:Eye Movements; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009759:Nystagmus, Pathologic / Q000209:etiology; D015835:Ocular Motility Disorders / Q000175:diagnosis / Q000209:etiology*; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency; D012027:Reflex, Vestibulo-Ocular
D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase