• Chi Ma, Yan-De Ren, Jia-Chen Wang, Cheng-Jian Wang, Ji-Ping Zhao, Tong Zhou, and Hua-Wei Su.
• Department of Radiology, Affiliated Hospital of Qingdao University, Qingdao, Shandong, China.
• Medicine (Baltimore). 2021 Mar 5; 100 (9): e24687e24687.

RationaleCerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid deposition disorder characterized by systemic signs and neurological dysfunction. The radiological features of CTX are infrequently summarized in the literature.Patient ConcernsWe described a 40-year-old male patient who repeatedly engaged in wrestling matches and presented with progressive difficulty in walking and reduced balance with egg-sized, hard, smooth, and painless masses in both ankles.DiagnosisNeuroimaging examination showed abnormalities both supra- and infratentorially. Bilateral ankle joint magnetic resonance imaging showed bilateral xanthomata of the Achilles tendon. The diagnosis was confirmed by the detection of a sterol 27-hydroxylase gene mutation.InterventionsThe patient was treated with chenodeoxycholic acid (250 mg 3 times per day).OutcomesTo date, the patient's bilateral xanthomas of the Achilles tendon have begun to diminish, and his neurological impairment has not deteriorated further but has not yet improved.LessonsWe report a rare case of CTX and summarize the clinical and imaging features of this disease. Our findings suggest that the abnormal signals in the dentate nucleus or a long spinal cord lesion involving the central and posterior cord, combined with tendon xanthoma, are important clues for the diagnosis of CTX.Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.

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