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- Title
Cerebrotendinous xanthomatosis - A case report.
- Authors
Parry, Arshed; Wani, Abdul; Bashir, Muiez; Gojwari, Tariq
- 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.
- Subjects
GENETIC disorder diagnosis; ANKLE; BIOPSY; EDEMA; GAIT disorders; LIPID metabolism disorders; PEOPLE with intellectual disabilities; NEUROLOGICAL disorders
- Publication
Indian Journal of Radiology & Imaging, 2019, Vol 29, Issue 3, p332
- ISSN
0971-3026
- Publication type
Article
- DOI
10.4103/ijri.IJRI_444_18