Refsum's disease


Also found in: Dictionary, Thesaurus, Medical, Legal, Wikipedia.

Refsum's disease

[′ref·səmz di‚zēz]
(medicine)
A familial disorder characterized by visual disturbances, ataxia, neuritic changes, and cardiac damage, associated with high blood level of phytinic acid.
Mentioned in ?
References in periodicals archive ?
However, these findings are quite non-specific and the differential diagnosis includes other hypertrophic neuropathies such as Refsum's disease, amyloid infiltration, chronic relapsing polyneuritis and Guillain-Barre' syndrome.