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Achilles tendon xanthoma in cerebrotendinous xanthomatosis (MRI)

(A) Sagittal T1-weighted, (B) proton density, and (C) STIR images show fusiform enlargement of the right Achilles tendon (arrows); the xanthoma is relatively isointense compared to muscle. (D) An axial proton density image shows diffuse fat infiltration with low-intensity tendon bundles interspersed within (arrows). Note: STIR = short tau inversion recovery. (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