(MIM 266510)

Very rare. Autosomal recessive transmission. Peroxisomal disease - probably due to a mutation of genes coding for the membrane of peroxisomes on 8q21.1, 7q21-q22. It causes a retinitis pigmentosa and a peripheral neuropathy. Present from the neonatal period:  retinitis pigmentosa (which can cause blindness) and hearing loss. Later: hypotonia, cerebellar ataxia, nystagmus, growth and intellectual delay, hepatomegaly, mild facial dysmorphism. Biology: hypocholesterolemia but increase in plasma levels of phytanic and pristanic acid, as well as very long chain fatty acids.

Treatment: diet that avoids sources of phytanic acid: dairy products, fish, beef, lamb.

In some cases, a liver transplant is performed.

Anesthetic implications:

in case of accumulation of  very long-chain fatty acids, avoid a continuous propofol infusion as in case of VLCAD (see this topic)

References : 

Updated: October 2018