—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.
Apkarian P, Koetsveld-Baart JC, Barth PG. Visual Evoked Potential Characteristics and Early Diagnosis of Pelizaeus-Merzbacher Disease. Arch Neurol. 1993;50(9):981–985. doi:10.1001/archneur.1993.00540090078014
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