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Cerebrotendinous xanthomatosis in an adult woman (MRI)

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Supratentorial axial T2-weighted MRI of a 37-year-old woman with cerebrotendinous xanthomatosis. This axial T2-weighted MRI shows white matter tract involvement, specifically of the corticospinal tracts and optic radiations. Clinical presentation: She presented primarily because of deteriorating balance. She also had mild cognitive problems and had been labeled as having Asperger syndrome. She had a history of early-onset cataracts when she was 8 years old, which were extracted when she was 9. She suffered from diarrhea when she was a child. She had begun falling frequently and had fractured her wrist, at which point she was found to have osteoporosis. Neurologic examination revealed limb and gait ataxia, inability to tandem walk, pathologically brisk reflexes, and bilateral extensor plantar responses but no tendon xanthomas. (Source: Islam M, Hoggard N, Hadjivassiliou M. Cerebrotendinous xanthomatosis: diversity of presentation and refining treatment with chenodeoxycholic acid. Cerebellum Ataxias 2021;8[1]:5. Creative Commons Attribution 4.0 International License.)