Cerebrotendinous xanthomatosis and infertility: A case report

Abstract

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.

Keywords

• cataracts
• cerebrotendinous xanthomatosis
• developmental delay
• gait disorder
• infertility