What are the less common manifestations of cerebrotendinous xanthomatosis (CTX)?

Updated: Jun 20, 2019
  • Author: Robert D Steiner, MD; Chief Editor: Maria Descartes, MD  more...
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Neonatal cholestasis has been observed repeatedly. [38] Cerebrotendinous xanthomatosis has been associated with marked cardiovascular findings, including coronary and carotid vascular disease [22, 39] and atrial septal hypertrophy [40, 41]

Granulomatous bone lesions, osteopenia, osteoporosis, and pathologic fractures have been well described. The granulomas are typically in the femur and lumbar vertebrae; thoracic kyphosis has been described. [42]

Granulomatous lung disease has been reported based on bronchoalveolar lavage findings. [43] These patients did not have correlating clinical symptoms. Pulmonary xanthomas have also been described.

Although hypothyroidism is not a common manifestation, it appears to be one of the few endocrinologic complications. In one particular series, the proband case had an ectopic thyroid gland and typical neurologic changes associated with cerebrotendinous xanthomatosis; 4 patients in this study had cerebrotendinous xanthomatosis and hypothyroidism. [44]

A single case report described a case of "minimal change" nephrotic syndrome and cerebrotendinous xanthomatosis in a Japanese adult. [45]

Osteoporosis, tooth loss, cataracts, dementia and parkinsonism, and heart disease can mimic signs of aging at an earlier age. [46]

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