Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid-storage
disease caused by a mutation in the sterol 27-hydroxylase (CYP27)
It is important that orthopaedic surgeons be aware of this condition because
the initial presentation may be symmetric, painful enlargement and deformity
of the Achilles tendons. Early diagnosis is the key to treatment because
medical therapy is effective in halting progression of, although not
reversing, the devastating neurological lesions of this condition.