Visual evoked potential characteristics and early diagnosis of pelizaeus-merzbacher disease

Early diagnosis of Pelizaeus-Merzbacher disease; assessment of disease progression. —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. —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. —Physical therapy, medication, evaluation. —Early diagnosis; diagnostic confirmation; objective monitor of disease progression. —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. —Visual evoked potential pediatric electrodiagnosis yields reliable measures of visual function and visual system maturation in leukodystrophy. © 1993 Arch Neurol All rights reserved.