Cerebrotendinous xanthomatosis - A case report

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.

Source: Indian Journal of Radiology and Imaging - October 30, 2019 Category: Radiology Authors: Arshed Hussain Parry Abdul Haseeb Wani Muiez Bashir Tariq A Gojwari Source Type: research