Abstract
The pathogenesis of Pelizaeus-Merzbacher (P-M) disease is unknown. A 17-year-old male, whose brother died at 12 years with pathological findings of classical P-M disease, had congenital nystagmus, ataxia, dementia, and progressive quadriparesis. Electronystagmographic testing showed prolonged latency and slow phase duration during rotation and caloric stimulation. These findings suggest ongoing involvement of myelinated fibers in brain stem-cerebellar connections which may underlie the abnormal eye movements of P-M disease. Electron microscopic examination of CSF ultrasediment (100,000 g) disclosed scattered cells containing lipid droplets (1-3 μ diameter) with unique satellite aggregation which were not represented in over 200 normal and pathological controls. In the white matter of the deceased sibling, the activities of cholesterol ester esterase (pH 6.6) and 2′3′-cyclic nucleotide phosphohydrolase were decreased to 40% and 20% of controls, respectively. The cholesterol ester fraction was 10X normal, and this fraction contained disproportionately increased amounts of oleic as opposed to arachidonic and other polyunsaturated fatty acids. This pattern is highly similar to that in other demyelinating diseases. These clinical and biochemical findings suggest that P-M disease is characterized by a chronic ongoing demyelinating process. (Supported in part by USPHS grants HD 05515 and HD 04147)
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Lott, I., Parker, S., Herndon, R. et al. 1590 DEMYELINATION IN PELIZAEUS-MERZBACHER DISEASE. Pediatr Res 15 (Suppl 4), 708 (1981). https://doi.org/10.1203/00006450-198104001-01607
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DOI: https://doi.org/10.1203/00006450-198104001-01607