Cerebrotendinous xanthomatosis: treatments with simvastatin, lovastatin, and chenodeoxycholic acid in 3 siblings.
We report 3 sisters treated for cerebrotendinous xanthomatosis. We treated one, with a severe neurologic form of the illness, with chenodeoxycholic acid, then lovastatin and simvastatin. These drugs had different efficacy and tolerance, but induced no clinical improvement. Her sisters, without neurologic symptoms, received chenodeoxycholic acid, which normalized the cholestanol level. Optimal treatment of this illness must begin before there is significant clinical symptomatology.
Peynet
J
J
Laboratoire de Biochimie, Hospital Lariboisière, Paris.
Laurent
A
A
De Liege
P
P
Lecoz
P
P
Gambert
P
P
Legrand
A
A
Mikol
J
J
Warnet
A
A
D000328:Adult; D000924:Anticholesteremic Agents / Q000627:therapeutic use; D001927:Brain Diseases / Q000000981:diagnostic imaging / Q000188:drug therapy* / Q000235:genetics; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D008148:Lovastatin / Q000031:analogs & derivatives* / Q000627:therapeutic use*; D009135:Muscular Diseases / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics; D019821:Simvastatin; D013710:Tendons; D014057:Tomography, X-Ray Computed; D014973:Xanthomatosis / Q000000981:diagnostic imaging / Q000188:drug therapy* / Q000235:genetics
D000924:Anticholesteremic Agents; D002635:Chenodeoxycholic Acid; D008148:Lovastatin; D019821:Simvastatin