Wednesday, November 22, 2017

Refsum's syndrome.. genetic disorder in lipid metabolism. Retinitis pigmentosa with neurological manifestations. Heart and bone manifestations



Refsum's syndrome:
Is a genetic disorder in lipid metabolism.
Neural and skin manifestations characterize this syndrome.
The hidden anomalies are the deficiency of feta-nic acid and the replacement of unsaturated fatty acids with linolenic acid from the lipid tissue.
Clinical manifestations:
- Skin manifestations: are mainly dry skin similar to the common fishes.
- General manifestations: Early in childhood, similar to retinitis pigmentary with neurological manifestations (Numerous neuropathy) and reactive heart and bone manifestations.
- Neurological changes occur, including: deafness, cerebral degeneration, multiple neuritis, pigmented retinitis and cardiac malformations.
Rimsem syndrome can be diagnosed by analyzing lipids in the blood or skin. Normally, there is no phytonic acid or very little blood in the blood.
Treatment:
Treatment with a diet free of vitanic acid, which prevents vegetables with green leaves and dairy products, and can be used to switch plasma with this diet.