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Cerebrotendinous xanthomatosis in an adult male (brain MRI)

Brain abnormalities detected by MRI in a 40-year-old man with cerebrotendinous xanthomatosis. Axial T1-weighted (top row), T2-weighted (middle row), and FLAIR (bottom row) images show symmetric hyperintensities in the posterior limbs of internal capsules, paraventricular white matter, cerebral peduncles, and anterior pons on T2-weighted and FLAIR images (arrows) with corresponding hypointensities on T1-weighted images, which are along corticospinal tracts. (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.)

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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