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Comparison of lower-leg lesions on MRI before and after chenodeoxycholic acid therapy

Sagittal ankle MRI, using a "true FISP" sequence shows focal fusiform thickening of both Achilles tendons, which corresponds to xanthoma accumulations in cerebrotendinous xanthomatosis (arrowhead). "True FISP" is the Siemens trade name for a steady-state coherent sequence in which balanced gradients are used along all three axes. The left image (a) was taken before therapy, and the right image (b) after 9 months of chenodeoxycholic acid therapy. The images show that there has been no progression of lesion growth. (Source: Brlek P, Bulić L, Glavaš Weinberger D, et al. Successful treatment of a rare cholesterol homeostasis disorder due to CYP27A1 gene mutation with chenodeoxycholic acid therapy. Biomedicines 2023;11[5]:1430. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)

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