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A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome

II. Ultrastructure
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      Abstract

      Extensive demyelination, and unusual cytosomes, the “zebra” bodies, were noted in Schwann cells and axons in a patient with neuropathy, cerebellar signs and atypical retinitis pigmentosa. Mitochondrial inclusion bodies were found in liver and skeletal muscle. It is suggested that this syndrome reflects a metabolic defect in myelination or myelin turnover, or perhaps an even more extensive abnormality in the synthesis and/or maintenance of certain membranes. The ultrastructural findings appear to be distinct from those in gargoylism, in which “zebra” bodies were first observed, and also from Refsum's syndrome.
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