Abstract
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder resulting
from a defective enzyme in bile acid synthesis pathway leading to neurological, ocular,
vascular, and musculoskeletal symptoms from deposition of cholestanol and cholesterol
in these tissues. We present clinical and imaging features of a 32-year-old female
who presented with mental retardation, gait instability and swelling along posterior
aspect of both ankles. Imaging studies were performed which revealed spectrum of CTX
findings in brain and tendons. Subsequently the diagnosis was confirmed by biopsy
and laboratory tests.
Keywords
Cerebrotendinous xanthomatosis - cholestanol - dentate nucleus
