Cerebrotendinous xanthomatosis - A case report

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 cl...

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Published inThe Indian journal of radiology & imaging Vol. 29; no. 3; pp. 332 - 334
Main Authors Parry, Arshed Hussain, Wani, Abdul Haseeb, Bashir, Muiez, Gojwari, Tariq A
Format Journal Article
LanguageEnglish
Published A-12, Second Floor, Sector -2, NOIDA -201301, India Thieme Medical and Scientific Publishers Private Ltd 01.07.2019
Wolters Kluwer India Pvt. Ltd
Georg Thieme Verlag Stuttgart
Wolters Kluwer - Medknow
Thieme Medical and Scientific Publishers Pvt. Ltd
Subjects
Acids
Ankle
Ataxia
Bile
Case Report
Case reports
Cataracts
cerebrotendinous xanthomatosis
cholestanol
Cholesterol
dentate nucleus
Enzymes
Gait
Laboratory tests
Medical imaging
Tendons
dentate nucleus
Cerebrotendinous xanthomatosis
cholestanol
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Summary: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 findings in brain and tendons. Subsequently the diagnosis was confirmed by biopsy and laboratory tests.
ISSN:0971-3026
0971-3026
1998-3808
DOI:10.4103/ijri.IJRI_444_18