[MIM 213 700]

Rare. Outside the Japan and Jewish communities of North Africa, cases are sporadic.  Autosomal recessive transmission of a mutation of the CYP27A1 gene that codes for a hepatic mitochondrial enzyme (sterol 27-hydroxylase), that oxidizes the side chain of cholesterol into bile acid. The mutation produces the accumulation of cholesterol and choletanol in the tissues, mainly: central nervous system, tendons, lungs, liver and kidneys.

First signs in childhood: chronic diarrhea, cataract in the first decade of life. Cutaneous xanthomas appear in the second or third decade. Neurological signs appear generally after puberty: peripheral neuropathy, paresis of spinal origin, pyramidal or cerebellar dysfunction.

Treatment: oral chenodeoxycholic acid.

Anesthetic implications:

increased risk of neurological toxicity of local anesthetics ? Difficult intubation if xanthomas are present in the tendons of the muscles of the neck.

References : 

• Habaragamuwa BWP, Bajekal R. 
  Cerebrotendinous xanthomatosis and anaesthesia. 
  Br J Anaesth 2010 ; 105 : 237-8.

Update: October 2019