What are the signs and symptoms of cerebrotendinous xanthomatosis (CTX)?

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

Chronic, sometimes intractable diarrhea occurs, with onset typically in infancy. The diarrhea continues through adulthood if left untreated. [24] Neonatal or infantile hepatitis and prolonged jaundice have been described. [9, 25]

The typical onset of ocular symptoms is in the first decade of life, rarely earlier than age 5 years. The following ocular findings are noted:

  • Bilateral, presenile cataracts that may be corticonuclear, anterior pole, or dense posterior opacities [26, 27, 28, 29]

  • Optic disk pallor

  • Premature retinal senescence with retinal vessel sclerosis

  • Cholesterol-like deposits along vascular arcade

  • Myelinated retinal nerve fibers [30]

  • Rarely, palpebral xanthelasma, proptosis (described once), and optic nerve atrophy

  • Unique bilateral fleck lenticular deposits have been described in affected children prior to development of capsular opacities [31]

Juvenile cataracts may be a presenting sign. [29] Xanthomas are rarely seen before age 20 years, although an exaggerated phenotype may be observed in patients with heterozygous familial hypercholesterolemia and cerebrotendinous xanthomatosis. [32] They are usually found on the Achilles tendon but may also be found on the patella, elbow, hand, and neck tendons. They have also been reported on the parenchyma of the lungs and brain, as well as in the bones. See the images below for examples.

Sixteen-year-old male with cerebrotendinous xantho Sixteen-year-old male with cerebrotendinous xanthomatosis. Note the xanthomas on his knuckles.
Sixteen-year-old male with cerebrotendinous xantho Sixteen-year-old male with cerebrotendinous xanthomatosis.
Xanthomas of the Achilles tendon. Photo courtesy o Xanthomas of the Achilles tendon. Photo courtesy of William Connor, MD, Oregon Health and Science University.
Xanthomas on the knees in a patient with cerebrote Xanthomas on the knees in a patient with cerebrotendinous xanthomatosis. Photo courtesy of William Connor, MD, Oregon Health and Science University.

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