Visual evoked potential characteristics and early diagnosis of Pelizaeus-Merzbacher disease.

OBJECTIVE

Early diagnosis of Pelizaeus-Merzbacher disease; assessment of disease progression.

DESIGN

Pediatric neuro-ophthalmology evaluation of visual function with pattern and luminance visual evoked potentials; behavioral state assessment; electrophysiological diagnostic test; baseline estimates at the age of 11 weeks; 1-year follow-up.

SETTING

University hospital electrodiagnostic vision research laboratory.

CASE STUDY

X-linked Pelizaeus-Merzbacher disease; leukodystrophy; patient tested at the age of 11 weeks and at the age of 58 weeks for follow-up; five age-matched normal controls.

INTERVENTIONS

Physical therapy, medication, evaluation.

MAIN OUTCOME

Early diagnosis; diagnostic confirmation; objective monitor of disease progression.

RESULTS

Abnormal spatial and temporal vision and abnormal visual pathway maturation; visual evoked potentials of proband with Pelizaeus-Merzbacher disease were grossly abnormal, reflecting myelination disorder.

CONCLUSIONS

Visual evoked potential pediatric electrodiagnosis yields reliable measures of visual function and visual system maturation in leukodystrophy.