Refsum Disease

A type of leukodystrophy. A type of peroxisome disorder.


a.k.a. hereditary ataxic neuropathy a.k.a. phytanic acid storage disease a.k.a. hereditary motor sensory neuropathy type IV a.k.a. heredopathia atactica polyneuritiformis

Clinical features:

Deafness, ataxia, anosmia
Retinitis pigmentosa (night blindness)
Progressive peripheral neuropathy
Ichthyosis: dry scaly skin
Cardiac arrhythmias
Short metacarpals and metatarsals

Findings on investigations:

Phytanic acid level:

  • Highly raised phytanic acid level (> 200 µmol/L; normal < 30 µmol/L)

CSF: increased protein

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