Refsum's syndrome
Contents:
Description:
Disease (syndrome) of Refsum (polinevritopodobny gemeratyupichesky geredoataksiya) — a rare hereditary disease which is shown that owing to defect of production of special enzyme in a human body fitanovy acid collects. Because of it in cells of the central and peripheral nervous systems, and also in tissues of internals concentration of fitanovy acid increases. Through certain time the content of this acid in a myelin grows to 50% of all fatty acids that leads to peroxide oxidation of lipids and destruction of a myelin cover.
Symptoms of the Syndrome of Refsum:
It is inherited by autosomal recessively principle. It is more often shown at children's or youthful age, the cerebellar ataxy, a polyneuropathy with amiotrofiya and paresis, deafness, an anosmia, decrease in visual acuity, a night blindness, concentric narrowing of fields of vision, a pigmental retinitis gradually develops. Cases of bone deformations in the form of a rachiocampsis, formations of foot of Fridreykh, an ichthyosis as a xerodermia, a cataract, damage of a myocardium are described. Disease progresses slowly. The differential diagnosis is carried out with neural amyotrophy of Sharko — Mari — the Hangout, Fridreykh's disease, polyneuropathies. For confirmation of the diagnosis determination of level of fitanovy acid in blood and urine is used.
Reasons of the Syndrome of Refsum:
Pathomorphologically the picture of an intersticial hypertrophic polyneuropathy with fatty degeneration of peripheral nerves, degenerative changes in cells of front horns, in back cords, subcrustal gangliya comes to light, acoustical, visual, olfactory nerves often are surprised.
Treatment of the Syndrome of Refsum:
Treatment consists in restriction of green fruit and vegetables which contain a chlorophyll. The plasma exchange at which fitanovy acid is deleted from blood can be effective.
