Refsum's disease. A unique case.
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.
Jaffe
D F
DF
Phoenix Veterans Affairs Medical Center, AZ, USA.
Crezee
K S
KS
Mason
S
S
Leavens-Chiarelli
T
T
Lawrence
W
W
D000368:Aged; D017809:Fatal Outcome; D005528:Foot / Q000473:pathology*; D006801:Humans; D008297:Male; D012035:Refsum Disease / Q000175:diagnosis / Q000209:etiology / Q000473:pathology*