• 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.
Patients.
—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.
