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Ocular motor signs in an infant with carbohydrate-deficient glycoprotein syndrome type Ia
K L Stark1, J B Gibson, R W Hertle
1Department of Ophthalmology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Insights
Carbohydrate-deficient glycoprotein syndrome type Ia can cause significant eye movement disorders in infants, including ocular flutter and congenital ocular motor apraxia. This case highlights the neurological impact of this rare genetic disorder.
Area of Science:
- Pediatric Neurology
- Ophthalmology
- Medical Genetics
Background:
- Carbohydrate-deficient glycoprotein syndrome (CDGS) is a rare group of inherited metabolic disorders.
- CDGS type Ia is the most common subtype, often presenting with multisystemic involvement.
- Ocular motor abnormalities are not widely recognized features of CDGS.
Observation:
- A 10-month-old infant with CDGS type Ia exhibited rapid horizontal eye oscillations upon arousal.
- Clinical assessment revealed congenital ocular motor apraxia and a diminished vestibulo-ocular reflex.
- Infrared eye tracking documented ocular flutter and square wave jerks alongside horizontal pendular nystagmus.
Findings:
- Magnetic resonance imaging demonstrated diffuse cerebellar hypoplasia in the affected infant.
- The combination of eye movement abnormalities suggests significant cerebellar dysfunction.
- This case links specific ocular motor signs to CDGS type Ia.
Implications:
- CDGS type Ia should be considered in the differential diagnosis of infantile nystagmus and other eye movement disorders.
- Early identification of these ocular signs may aid in the diagnosis and management of CDGS.
- Further research is warranted to understand the spectrum of neurological manifestations in CDGS.
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.