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.