Abstract
We describe a patient with cerebrotendinous xanthomatosis who was treated for one year with chenodeoxycholic acid. Modest clinical improvement was accompanied by marked improvement in visual and brainstem auditory evoked potentials. Improved central nervous system function coincided with return of plasma and cerebrospinal fluid cholestanol levels to normal.
MeSH terms
-
Adult
-
Brain Diseases / drug therapy*
-
Brain Diseases / metabolism
-
Brain Diseases / physiopathology
-
Chenodeoxycholic Acid / therapeutic use*
-
Cholesterol / blood
-
Cholesterol / cerebrospinal fluid
-
Evoked Potentials
-
Humans
-
Male
-
Muscular Diseases / drug therapy
-
Muscular Diseases / metabolism
-
Muscular Diseases / physiopathology
-
Neural Conduction
-
Tendons*
-
Xanthomatosis / drug therapy*
-
Xanthomatosis / metabolism
-
Xanthomatosis / physiopathology
Substances
-
Chenodeoxycholic Acid
-
Cholesterol