Summary of baby diseases
July 18th, 2010 | 
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The infantile form of Refsum’s disease is a disorder that affects peroxisome, appears with retinitis pigmentosa and peripheral neuropathy. It belongs to the group of peroxisomal disorders, a subgroup of leucodistróficas diseases. This disorder is extremely rare, with a prevalence of 1 in 20,000,000. The infantile form of Refsum syndrome differs from the adult form because of its clinical and its etiology, in fact, presents a great similarity to the Zellweger syndrome. The clinical signs are already at birth, often with retinitis pigmentosa usually leading to blindness and severe hearing impairment. Other symptoms may include: cerebellar ataxia, nystagmus, hypotonia, growth retardation, intellectual deficit, a slight facial dysmorphism, osteoporosis, liver enlargement and hypercholesterolemia. This autosomal recessive disease caused by abnormalities in the biogenesis of peroxisomes, generates an elevation of plasma levels of phytanic acid, pristanic acid, pipecolic acid and fatty acids of very long chain (VLCFA). This disorder affects various enzymes. Deficiency and impaired function of peroxisomes suggest that the infantile form of Refsum disease is caused by a mutation in one gene PEX1, PEX2 or PEX6K. The products of these genes contribute to the formation of peroxisomes and their maintenance. The prognosis of patients has improved markedly since the discovery of the benefits of maintaining a diet restricted consumption of foods rich in phytanic acid (such as dairy products, beef, lamb or fish blue). Some children need regular plasmapheresis. Life expectancy can reach 20 years or more, but the infantile form of Refsum syndrome remains lethal in the short term.