Indian Journal of Radiology Indian Journal of Radiology  

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CASE REPORT Table of Contents   
Year : 2019  |  Volume : 29  |  Issue : 3  |  Page : 332-334
Cerebrotendinous xanthomatosis - A case report

Department of Radiodiagnosis, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India

Correspondence Address:
Dr. Arshed Hussain Parry
Department of Radiodiagnosis, Sher-i-Kashmir Institute of Medical Sciences, Soura, Srinagar - 190 011, Jammu and Kashmir
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijri.IJRI_444_18

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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.

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