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

PURPOSE: To document the evolution of ocular motor abnormalities in an infa nt with carbohydrate-deficient glycoprotein syndrome. METHODS: Case report. An infant with carbohydrate-deficient glycoprotein sy ndrome type la underwent magnetic resonance imaging and infrared eye moveme nt recording. RESULTS: A 10-month-old male with carbohydrate-deficient glycoprotein syndr ome type Ia had rapid horizontal oscillations of the eyes when startled or awakened from sleep. Clinical examination confirmed this finding and disclo sed congenital ocular motor apraxia with a reduced vestibule-ocular reflex. Infrared eye movement recording showed ocular flutter and square wave jerk s superimposed on a horizontal pendular nystagmus, Magnetic resonance imagi ng showed diffuse cerebellar hypoplasia. CONCLUSION: Carbohydrate-deficient glycoprotein syndrome type Ia can be ass ociated with multiple cerebellar eye signs including ocular flutter, square -wave jerks, and congenital ocular motor apraxia. (C) 2000 by Elsevier Scie nce Inc.