Refsum's disease. A unique case

DF JaffePhoenix Veterans Affairs Medical Center, AZ, USA.

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KS CrezeePhoenix Veterans Affairs Medical Center, AZ, USA.

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S MasonPhoenix Veterans Affairs Medical Center, AZ, USA.

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T Leavens-ChiarelliPhoenix Veterans Affairs Medical Center, AZ, USA.

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W LawrencePhoenix Veterans Affairs Medical Center, AZ, USA.

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Refsum's disease, or heredopathia atactica polyneuritiformis, is a peroxisomal disorder leading to the accumulation of phytanic acid throughout the body. It affects sensory and motor neurons and the skeletal system. Peripheral neuropathy, ataxia, blindness, deafness, and skeletal hyperostosis are significant findings used in the diagnosis of the disease.