A type of leukodystrophy. A type of peroxisome disorder.
Synonyms:
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