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Cerebrotendinous xanthomatosis in an adult male (CT and MRI)

Cerebellar parenchymal abnormalities in a 40-year-old man with cerebrotendinous xanthomatosis. (A) and (B) Axial CT images show low-density lesions in both cerebellar hemispheres. (C) The axial T1-weighted image shows low-intensity areas in the dentate nuclei and the deep cerebellar white matter bilaterally. (D) The axial T2-weighted image shows hyperintensities in the bilateral cerebellar deep white matter and hyperintensities in the deep white matter of the cerebellum bilaterally. (E) The axial FLAIR image shows low-signal intensity consistent with cerebellar vacuolation in the same areas. (F) Susceptibility-weighted imaging reveals hypointensities in the bilateral dentate nuclei compatible with microcalcifications. (Source: Ma C, Ren YD, Wang JC, et al. The clinical and imaging features
of cerebrotendinous xanthomatosis: a case report and review of the literature. Medicine [Baltimore] 2021;100[9]:e24687. Creative Commons Attribution License 4.0 [CC BY] 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