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Significant volume loss in cerebrotendinous xanthomatosis (MRI)

This T2-weighted brain MRI from a 37-year-old man with cerebrotendinous xanthomatosis shows signal change within the cerebellar hemispheres associated with significant volume loss. There was a combination of low signal change suspected to be due to calcification and raised signal change in the rest of the cerebellar hemispheres extending into the cerebellar peduncles bilaterally. Clinical presentation: The patient had a history of learning difficulties, requiring special classes at school. He was evaluated for worsened speech and marked disequilibrium and required assistance to walk. Examination showed no cataracts or xanthomas. Neurologic examination showed marked dysarthria, limb and gait ataxia, diffusely increased tone, and pathologically brisk reflexes in both legs with bilateral extensor plantar responses. [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