期刊
INDIAN JOURNAL OF RADIOLOGY AND IMAGING
卷 29, 期 3, 页码 332-334出版社
THIEME MEDICAL PUBL INC
DOI: 10.4103/ijri.IJRI_444_18
关键词
Cerebrotendinous xanthomatosis; cholestanol; dentate nucleus
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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