What is the morbidity associated with cerebrotendinous xanthomatosis (CTX)?

Updated: Jun 20, 2019
  • Author: Robert D Steiner, MD; Chief Editor: Maria Descartes, MD  more...
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Answer

Morbidity begins with intractable diarrhea. Presenile cataracts result in vision abnormalities. Xanthomas can cause motor restriction and joint deformities, resulting in various orthopedic sequelae. Vascular abnormalities such as premature atherosclerosis (especially in the carotid and coronary vessels) can lead to stroke and myocardial infarction. The primary neurologic manifestations of the disease are associated with complications that range from treatable seizures to neurologic devastation. The severity of disease widely varies.


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