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Cerebrotendinous xanthomatosis in a 22-year-old Indian woman (MRI)

T2 (A, C, D), FLAIR (B, E-G), and post-contrast T1 (H) sequences show symmetric T2 hyperintense and FLAIR hypointense lesions along bilateral dentate and cerebellar white matter (A, B, D, G), T2 and FLAIR hyperintensity of the corticospinal tract along periventricular white matter (E), posterior limb of internal capsule (C), cerebral peduncles (F), and pons (A and H), as well as hyperintensity of the inferior olives (B) and middle cerebellar peduncles (A and G), and rarefaction of cerebellar white matter (A and G). T2 hypointense rim noted around dentate nuclei (D). Note the “hot cross bun” appearance along the pons (A and G, inset) and olivary hyperintensity (B, inset). T1 post-contrast image showed no enhancement (H). (Source: Katragadda P, Holla VV, Kamble N, Saini J, Yadav R, Pal PK. Clinical and imaging profile of patients with cerebrotendinous xanthomatosis: a video case series from India. Tremor Other Hyperkinet Mov [N Y] 2024;14:10. 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