Rare genetic cerebrotendinous xanthomatosis cases (CTX) without cholestanol elevation but with prominent cholesterol-rich tendon xanthomas.

Cerebrotendinous xanthomatosis (CTX) is a rare disease attributed to partial or complete loss of the enzyme sterol-27-hydroxylase leading to chenodeoxycholic acid and cholic acid production deficiency, and accumulation of sterol intermediates, mainly cholestanol, in plasma and in several other tissues. The clinical phenotype of CTX greatly varies among patients and includes tendon xanthomas, gallbladder stones, diarrhea, cataracts, and neurological abnormalities 1. The diagnostic identification typically is characterized by an elevated level of plasma cholestanol and identification of CYP27A1 gene variants.
Source: Journal of Clinical Lipidology - Category: Lipidology Authors: Tags: Case Study Source Type: research