Failure in the treatment of long-standing osteoporosis in cerebrotendinous xanthomatosis.
We evaluated the therapeutic effect of combined therapy with chenodeoxycholic acid, calcium carbonate, and sodium bicarbonate on long-standing osteoporsis in three siblings (two women and one man, aged 30-38 yr) with cerebrotendinous xanthomatosis (CTX). The evaluation was based on the measurement of bone mineral density (BMD) before and after 3 years of combined therapy. Clinically, the therapeutic effect was quite limited (almost no change in BMD values), and did not parallel the marked decrease in serum cholestanol level (normalization of serum levels). While the reason for the therapeutic failure in our patients is not known, it is possible that delay in starting treatment may have been a factor. Measurement of BMD for evaluation of therapeutic effect in long-standing osteoporosis in CTX patients is of little practical value.
Chang
W N
WN
Department of Neurology, Chang Gung Memorial Hospital-Kaohsiung, Taiwan, ROC.
Lui
C C
CC
D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D010024:Osteoporosis / Q000209:etiology* / Q000628:therapy; D019294:Xanthomatosis, Cerebrotendinous / Q000150:complications*