Cerebrotendinous xanthomatosis: a treatable cause of metabolic ataxia.
Cerebrotendinous xanthomatosis is an exceptionally rare condition in Indian subcontinent, however, it is potentially treatable if diagnosed. We present and discuss the clinical presentation and investigations in a case of cerebrotendinous xanthomatosis (CTX).
Mukherjee
A A
AA
Department of Medicine, K.J. Somaiya Medical College and Research Centre, Sion, Mumbai.
Chawla
B P
BP
Rathi
S S
SS
Puthran
R S
RS
D000328:Adult; D001259:Ataxia / Q000209:etiology*; D002635:Chenodeoxycholic Acid; D004083:Cholestanol; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use; D008297:Male; D019294:Xanthomatosis, Cerebrotendinous / Q000150:complications* / Q000188:drug therapy
D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; D002635:Chenodeoxycholic Acid; D004083:Cholestanol