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Signal changes in lateral corticospinal tracts in cerebrotendinous xanthomatosis (MRI)

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This axial T2-weighted spinal MRI from a 27-year-old man with cerebrotendinous xanthomatosis shows signal changes mainly affecting the lateral corticospinal tracts. Clinical presentation: This man presented with a 3-year history of "stiffness" followed by weakness and sensory disturbances of both legs. He had a prior history of infantile-onset diarrhea that persisted. Examination revealed gaze-evoked nystagmus, a brisk jaw jerk, increased tone bilaterally in the arms and legs with pathologically brisk reflexes, extensor plantar responses, a spastic gait, and bilateral pes cavus. He eventually became wheelchair-bound due to his severe spasticity. (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.)