Parry Arshed Hussain, Wani Abdul Haseeb, Bashir Muiez, Gojwari Tariq A
Department of Radiodiagnosis, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India.
Indian J Radiol Imaging. 2019 Jul-Sep;29(3):332-334. doi: 10.4103/ijri.IJRI_444_18. Epub 2019 Oct 30.
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder resulting from a defective enzyme in bile acid synthesis pathway leading to neurological, ocular, vascular, and musculoskeletal symptoms from deposition of cholestanol and cholesterol in these tissues. We present clinical and imaging features of a 32-year-old female who presented with mental retardation, gait instability and swelling along posterior aspect of both ankles. Imaging studies were performed which revealed spectrum of CTX findings in brain and tendons. Subsequently the diagnosis was confirmed by biopsy and laboratory tests.
脑腱黄瘤病（CTX）是一种罕见的常染色体隐性疾病，由胆汁酸合成途径中的酶缺陷引起，导致胆甾烷醇和胆固醇在这些组织中沉积，从而出现神经、眼部、血管和肌肉骨骼症状。我们报告了一名32岁女性的临床和影像学特征，该患者表现为智力发育迟缓、步态不稳以及双侧脚踝后方肿胀。进行了影像学检查，结果显示脑和肌腱存在一系列CTX表现。随后通过活检和实验室检查确诊。
