{Reference Type}: Case Reports
{Title}: Cerebrotendinous xanthomatosis and infertility: A case report.
{Author}: Karimi N;Amiri Z;Naeini S;Okhovat AA;
{Journal}: Clin Case Rep
{Volume}: 10
{Issue}: 12
{Year}: Dec 2022
暂无{DOI}: 10.1002/ccr3.6661
{Abstract}: Cerebrotendinous xanthomatosis (CTX) is a lipid storage disorder that causes neurological, ophthalmic, vascular, and musculoskeletal disorders due to the deposition of cholesterol in the tissues. Hence, we report clinical and imaging of a 31-year-old mentally retarded man with cerebellar ataxia, bilateral swelling of the posterior aspect of Achill, and infertility.