332 © 2019 Indian Journal of Radiology and Imaging | Published by Wolters Kluwer ‑ Medknow Cerebrotendinous xanthomatosis ‑ A case report Arshed Hussain Parry, Abdul Haseeb Wani, Muiez Bashir, Tariq A Gojwari Department of Radiodiagnosis, Sher‑i‑Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India Correspondence: Dr. Arshed Hussain Parry, Department of Radiodiagnosis, Sher‑i‑Kashmir Institute of Medical Sciences, Soura, Srinagar ‑ 190 011, Jammu and Kashmir, India. E‑mail: arshedparry@gmail.com Abstract 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 fndings in brain and tendons. Subsequently the diagnosis was confrmed by biopsy and laboratory tests. Key words: Cerebrotendinous xanthomatosis; cholestanol; dentate nucleus Introduction Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder resulting from a defective enzyme in bile acid synthesis pathway with deposition of cholestanol and cholesterol in brain, tendons, soft tissues and eyes leading to cerebellar dysfunction, early cataract formation, tendon, and soft tissue xanthomas. Around 300 cases of CTX have been reported worldwide to date. The disease is potentially treatable with chenodeoxycholic acid. Early diagnosis and treatment is essential to prevent the neurological sequelae of the disease. Case History A 32‑year‑old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non‑tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence [Figure 1A]. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones [Figure 1B]. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis [Figure 2]. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs Case report Access this article online Quick Response Code: Website: www.ijri.org DOI: 10.4103/ijri.IJRI_444_18 Cite this article as: Parry AH, Wani AH, Bashir M, Gojwari TA. Cerebrotendinous xanthomatosis ‑ A case report. Indian J Radiol Imaging 2019;29:332‑4. Received: 22‑Nov‑2018 Revision: 24‑Nov‑2018 Accepted: 10‑Sep‑2019 Published: 30‑Oct‑2019 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution‑NonCommercial‑ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non‑commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. For reprints contact: reprints@medknow.com Article published online: 2021-07-22