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...
Saved in:
Published in | The Indian journal of radiology & imaging Vol. 29; no. 3; pp. 332 - 334 |
---|---|
Main Authors | , , , |
Format | Journal Article |
Language | English |
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 | |
Online Access | Get full text |
Cover
Loading…
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 |