Case Reports
doi: 10.1212/01.wnl.0000143057.25471.4f.
Adult alpha-mannosidosis: clinical progression in the absence of demyelination
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- PMID: 15534274
- DOI: 10.1212/01.wnl.0000143057.25471.4f
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Case Reports
Adult alpha-mannosidosis: clinical progression in the absence of demyelination
Neurology.
.
Abstract
Alpha-mannosidosis is an inherited lysosomal storage disease. The authors report three siblings (ages 38 to 47 years) with the rare adult variant. All three had late-onset ataxia and retinal degeneration, adding to hearing loss, cognitive impairment, and dysotosis multiplex. One sibling also had psychosis. MRI revealed cerebellar atrophy and predominantly parieto-occipital white matter changes. MR spectroscopy showed no evidence for demyelination. It appears that the disabling course of adult alpha-mannosidosis is caused by lysosomal accumulation rather than demyelination.
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