Ocular motor ign in an infant with carbohydrate-deficient glycoprotein yndrome type Ia

PURPOE: To document the evolution of ocular motor abnormalitie in an infant with carbohydrate-deficient glycoprotein yndrome. METHOD: Cae report. An infant with carbohydrate-deficient glycoprotein yndrome type 1a underwent magnetic reonance imaging and infrared eye movement recording. REULT: A 10-month-old male with carbohydrate-deficient glycoprotein yndrome type Ia had rapid horizontal ocillation of the eye when tartled or awakened from leep. Clinical examination confirmed thi finding and dicloed congenital ocular motor apraxia with a reduced vetibulo-ocular reflex. Infrared eye movement recording howed ocular flutter and quare wave jerk uperimpoed on a horizontal pendular nytagmu. Magnetic reonance imaging howed diffue cerebellar hypoplaia. CONCLUION: Carbohydrate-deficient glycoprotein yndrome type Ia can be aociated with multiple cerebellar eye ign including ocular flutter, quare-wave jerk, and congenital ocular motor apraxia.