Cerebrotendinous Xanthomatosis (CTX) Follow-up

Updated: Jul 07, 2017
  • Author: Robert D Steiner, MD; Chief Editor: Maria Descartes, MD  more...
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Follow-up

Further Outpatient Care

The annual examination in patients with cerebrotendinous xanthomatosis (CTX) should consist of the following: [6]

  • Neurologic and neuropsychologic evaluation
  • Cholestanol plasma concentration assessment
  • Brain MRI in selected cases
  • Echocardiography when indicated
  • Bone mineral density assessment when indicated
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Deterrence/Prevention

Therapy with chenodeoxycholic acid (CDCA) can halt and reverse symptoms of the illness, including GI and neurologic complications.

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Prognosis

If cerebrotendinous xanthomatosis is untreated, life expectancy is into the fifth and sixth decades; however, confirmed deaths have been reported as early as age 4 months. This is a progressive and terminal disease if left untreated. Treated patients may have a normal lifespan.

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