Jaffe D F, Crezee K S, Mason S, Leavens-Chiarelli T, Lawrence W
Phoenix Veterans Affairs Medical Center, AZ, USA.
J Am Podiatr Med Assoc. 1998 Aug;88(8):406-9. doi: 10.7547/87507315-88-8-406.
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.
雷夫叙姆病，或称多神经炎型遗传性共济失调，是一种过氧化物酶体疾病，可导致植烷酸在全身蓄积。它会影响感觉和运动神经元以及骨骼系统。周围神经病变、共济失调、失明、失聪和骨骼骨质增生是用于诊断该疾病的重要体征。
