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Comparison of CNS lesions on axial FLAIR MRI before and after chenodeoxycholic acid therapy

FLAIR sequence shows bilaterally symmetrical hyperintensity in the cerebellar white matter and the dentate nucleus (arrowhead). The left image was taken before therapy, and the right image 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