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

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.]

Associated Disorders

  • Ataxia
  • Behavioral problems
  • Bone fractures
  • Bulbar palsy
  • Cerebellar syndrome
  • Chronic diarrhea in children
  • Degenerative CNS disease
  • Dementia
  • Epileptic seizures
  • Gallstones
  • Ischemic heart disease
  • Juvenile cataracts
  • Kidney stones
  • Leukoencephalopathy
  • Marinesco-Sjogren syndrome
  • Mental retardation
  • Mitochondrial myopathy
  • Myelopathy
  • Myopathic-like faces
  • Nephrocalcinosis
  • Nephrolithiasis
  • Neurometabolic disease
  • Osteoporosis
  • Paraparesis
  • Paraplegia
  • Parkinsonism
  • Peripheral polyneuropathy
  • Pes cavus
  • Pontocerebellar degeneration
  • Psychiatric disorders
  • Xanthomata