Which CNS findings are characteristic of cerebrotendinous xanthomatosis (CTX)?

Updated: Jun 20, 2019
  • Author: Robert D Steiner, MD; Chief Editor: Maria Descartes, MD  more...
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Xanthomas and granulomas are found in multiple areas of the brain, including the cerebellar hemispheres, cerebellar peduncles, and globus pallidus. Further studies have reported more involvement of gray matter and have also described pathognomonic lesions of spindle-shaped lipid crystal clefts, fibrosis, and hemosiderin deposition in the dentate nucleus. [72] Neuropathologic findings described include lipid crystal clefts, neuronal loss, demyelination, reactive astrocytosis, and perivascular macrophages, suggesting the limited reversibility of the disease and poor prognosis if treatment is not started early.

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