Cerebrotendinous xanthomatosis (CTX): management

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Cerebrotendinous xanthomatosis (CTX): management. Hyperintensities on T2 weighted/FLAIR. Fully referenced neurology checklist.

Magnetic resonance imaging (MRI): dentate features

  • Hyperintensities on T2 weighted/FLAIR
  • Hypointensities on T1 weighted/FLAIR: due to vacuolation
  • Hypointensities on susceptibility weighted imaging due to calcifications

Magnetic resonance imaging (MRI): other features

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Blood tests

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Urine tests

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Treatment: chenodeoxycholic acid (CDCA)

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References

  1. Moghadasian MH, Salen G, Frohlich JJ, Scudamore CH. Cerebrotendinous xanthomatosis: a rare disease with diverse manifestations. Arch Neurol 2002; 59:527-529.
  2. Rafiq M, Sharrack N, Shaw PJ, Hadjivassiliou M. A neurological rarity not to be missed: cerebrotendinous xanthomatosis. Pract Neurol 2011; 11:296-300.
  3. Amato AA, Russell JA. Neuromuscular disorders. McGraw Hill New York 2008 Chapter 10.
  4. Mignarri A, Dotti MT, Federico A, et al. The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression. J Neurol 2017; 264:862-874. 
  5. Abe R, Sekijima Y, Kinoshita T, et al. Spinal form cerebrotendinous xanthomatosis patient with long spinal cord lesion. J Spinal Cord Med 2016; 39:726-729. 
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