PDF(Pubmed)
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.
摘要：
脑性黄瘤病（CTX）是一种脂质贮积症，可引起神经系统疾病，眼科,血管,和由于胆固醇在组织中沉积引起的肌肉骨骼疾病。因此，我们报道了一名31岁的智障男子小脑共济失调的临床和影像学检查，Achill后部双侧肿胀，和不孕症。
