[2 new cases of Refsum's disease. Course during diet].
The authors report two cases of Refsum's disease treated with a low phytanic acid and low phytol diet for more than 5 years. The clinical, neurological improvement was undoubted in both cases but it was very gradual, appearing after 10 1/2 and 6 months treatment respectively. During these 5 years, no neurological aggravation occurred in the first patient ; but her sister presented in september 1972, 18 months after she started the diet, a mild attack from which she recovered. On the other hand, the sight and hearing disorders remained unchanged in spite of the considerable fall in phytanemia. In spite of the demanding and unagreeable character of the diet, almost constant moderate diarrhoea, the diet was worth following.
D000328:Adult; D005132:Eye Manifestations; D005260:Female; D006311:Hearing Disorders / Q000209:etiology; D006801:Humans; D008875:Middle Aged; D010831:Phytanic Acid / Q000097:blood; D010836:Phytol; D012035:Refsum Disease / Q000175:diagnosis / Q000178:diet therapy*
D010831:Phytanic Acid; D010836:Phytol
A propos de deux nouveaux cas de maladie de Refsum. Evolution sous régime