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.
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