How is cerebrotendinous xanthomatosis (CTX) diagnosed?

Updated: Jun 20, 2019
  • Author: Robert D Steiner, MD; Chief Editor: Maria Descartes, MD  more...
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Typically, untreated cerebrotendinous xanthomatosis (CTX) follows a progressive course. Mignarri et al recently proposed a suspicion index for earlier diagnosis of cerebrotendinous xanthomatosis with weighted scores assigned to indicators of disease. [23] Four clinical criteria are used in diagnosis; the presence of any 2 of the criteria warrants testing for cerebrotendinous xanthomatosis, although because this is a treatable disorder, testing when only 1 criterion is present is reasonable. The criteria include intractable diarrhea, presenile cataracts, tendinous xanthomas, and neurologic abnormalities. The symptoms usually manifest themselves in that order, although atypical cases have been reported and the disease spectrum widely varies, even among families. To date, no genotype-phenotype correlation has been reported.

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