Visual evoked potential characteristics and early diagnosis of Pelizaeus-Merzbacher disease
P. Apkarian, J. C. Koetsveld-Baart and P. G. Barth
Department of Visual Systems Analysis, The Netherlands Ophthalmic Research Institute, Amsterdam.
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.