Cerebrotendinous Xanthomatosis

Background and History: 

This treatable disorder has serious eye and neurologic manifestations.  It should be considered in all infants with diarrhea and jaundice and also among young people with early onset cataracts.

Clinical Correlations: 

This is a heritable disorder of fat metabolism that can cause symptoms at birth, such as persistent jaundice and diarrhea.  Cataracts may be present in the first decade of life and often need to be removed by the third decade.  In fact, cataracts are the first sign in 75% of patients.  Later, in the second and third decades, unsightly cholesterol deposits appear in tendons which connect muscle to bone.  Perhaps even more serious are the progressive neurologic signs such as unsteadiness and mental changes including dementia.  These generally appear in early adulthood, after the onset of cataracts and tendon deposits but earlier signs, even in children, can be found if careful examination is done.  Many individuals have evidence of atherosclerosis.


This is an autosomal recessive disorder in which the disease appears after a mutation is inherited from both parents, who are usually normal.  Two mutations are necessary for the disease to be expressed and the risk for siblings to have the same diseae is 25%.

Diagnosis and Prognosis: 

This is a treatable disorder with the best prognosis if detected early.  Administration of CDCA and/or pravastatin helps correct the enzyme deficiency and some patients with early symptoms actually have improvement in their mental function and neurologic signs.

Additional Information