Open AccessCerebrotendinous Xanthomatosis – Case Series Highlighting the Role of Imaging in Diagnosis
Author(s) -
Birma Ram,
Manoj Gopinath,
Pankaj Sharma,
Vinay Maurya,
Gunjan Mukherjee
Publication year - 2020
Publication title -
indian journal of musculoskeletal radiology.
Language(s) - English
Resource type - Journals
ISSN - 2582-3396
DOI - 10.25259/ijmsr_40_2020
Subject(s) - cerebrotendinous xanthomatosis , cholestanol , chenodeoxycholic acid , disease , medicine , bioinformatics , cholesterol , biology , sterol
Cerebrotendinous xanthomatosis is a rare genetic disease with an autosomal recessive inheritance. It is characterized by deposition of cholesterol and cholestanol in various tissues of the body. Imaging features are characteristic and help to clinch the diagnosis. Early diagnosis is extremely important as timely treatment with chenodeoxycholic acid and HMG-CoA reductase inhibitors can halt the further progression of the disease.