Visual evoked potential characteristics and early diagnosis of Pelizaeus-Merzbacher disease.
OBJECTIVE
Early diagnosis of Pelizaeus-Merzbacher disease; assessment of disease progression.


METHODS
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.


METHODS
University hospital electrodiagnostic vision research laboratory.


METHODS



METHODS
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.


METHODS
Physical therapy, medication, evaluation.


RESULTS
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.
Apkarian
P
P
Department of Visual Systems Analysis, The Netherlands Ophthalmic Research Institute, Amsterdam.
Koetsveld-Baart
J C
JC
Barth
P G
PG
D001519:Behavior; D001921:Brain / Q000503:physiopathology; D002675:Child, Preschool; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis* / Q000503:physiopathology; D004594:Electrophysiology; D005074:Evoked Potentials, Visual; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014796:Visual Perception